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1.
Cochrane Database Syst Rev ; 5: CD013640, 2023 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-37196992

RESUMO

BACKGROUND: Although acute diarrhoea is a self-limiting disease, dehydration may occur in some children. Dehydration is the consequence of an increased loss of water and electrolytes (sodium, chloride, potassium, and bicarbonate) in liquid stools. When these losses are high and not replaced adequately, severe dehydration appears. Severe dehydration is corrected with intravenous solutions. The most frequently used solution for this purpose is 0.9% saline. Balanced solutions (e.g. Ringer's lactate) are alternatives to 0.9% saline and have been associated with fewer days of hospitalization and better biochemical outcomes. Available guidelines provide conflicting recommendations. It is unclear whether 0.9% saline or balanced intravenous fluids are most effective for rehydrating children with severe dehydration due to diarrhoea. OBJECTIVES: To evaluate the benefits and harms of balanced solutions for the rapid rehydration of children with severe dehydration due to acute diarrhoea, in terms of time in hospital and mortality compared to 0.9% saline. SEARCH METHODS: We used standard, extensive Cochrane search methods. The latest search date was 4 May 2022. SELECTION CRITERIA: We included randomized controlled trials in children with severe dehydration due to acute diarrhoea comparing balanced solutions, such as Ringer's lactate or Plasma-Lyte with 0.9% saline solution, for rapid rehydration. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were 1. time in hospital and 2. MORTALITY: Our secondary outcomes were 3. need for additional fluids, 4. total amount of fluids received, 5. time to resolution of metabolic acidosis, 6. change in and the final values of biochemical measures (pH, bicarbonate, sodium, chloride, potassium, and creatinine), 7. incidence of acute kidney injury, and 8. ADVERSE EVENTS: We used GRADE to assess the certainty of the evidence. MAIN RESULTS: Characteristics of the included studies We included five studies with 465 children. Data for meta-analysis were available from 441 children. Four studies were conducted in low- and middle-income countries and one study in two high-income countries. Four studies evaluated Ringer's lactate, and one study evaluated Plasma-Lyte. Two studies reported the time in hospital, and only one study reported mortality as an outcome. Four studies reported final pH and five studies reported bicarbonate levels. Adverse events reported were hyponatremia and hypokalaemia in two studies each. Risk of bias All studies had at least one domain at high or unclear risk of bias. The risk of bias assessment informed the GRADE assessments. Primary outcomes Compared to 0.9% saline, the balanced solutions likely result in a slight reduction of the time in hospital (mean difference (MD) -0.35 days, 95% confidence interval (CI) -0.60 to -0.10; 2 studies; moderate-certainty evidence). However, the evidence is very uncertain about the effect of the balanced solutions on mortality during hospitalization in severely dehydrated children (risk ratio (RR) 0.33, 95% CI 0.02 to 7.39; 1 study, 22 children; very low-certainty evidence). Secondary outcomes Balanced solutions probably produce a higher increase in blood pH (MD 0.06, 95% CI 0.03 to 0.09; 4 studies, 366 children; low-certainty evidence) and bicarbonate levels (MD 2.44 mEq/L, 95% CI 0.92 to 3.97; 443 children, four studies; low-certainty evidence). Furthermore, balanced solutions likely reduces the risk of hypokalaemia after the intravenous correction (RR 0.54, 95% CI 0.31 to 0.96; 2 studies, 147 children; moderate-certainty evidence). Nonetheless, the evidence suggests that balanced solutions may result in no difference in the need for additional intravenous fluids after the initial correction; in the amount of fluids administered; or in the mean change of sodium, chloride, potassium, and creatinine levels. AUTHORS' CONCLUSIONS: The evidence is very uncertain about the effect of balanced solutions on mortality during hospitalization in severely dehydrated children. However, balanced solutions likely result in a slight reduction of the time in the hospital compared to 0.9% saline. Also, balanced solutions likely reduce the risk of hypokalaemia after intravenous correction. Furthermore, the evidence suggests that balanced solutions compared to 0.9% saline probably produce no changes in the need for additional intravenous fluids or in other biochemical measures such as sodium, chloride, potassium, and creatinine levels. Last, there may be no difference between balanced solutions and 0.9% saline in the incidence of hyponatraemia.


Assuntos
Desidratação , Hipopotassemia , Criança , Humanos , Bicarbonatos/uso terapêutico , Creatinina , Desidratação/etiologia , Desidratação/terapia , Diarreia/terapia , Potássio , Cloreto de Potássio/uso terapêutico , Lactato de Ringer , Solução Salina , Sódio
2.
Cochrane Database Syst Rev ; 5: CD004128, 2023 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-37217440

RESUMO

BACKGROUND: Good neurological outcome after cardiac arrest is difficult to achieve. Interventions during the resuscitation phase and treatment within the first hours after the event are critical for a favourable prognosis. Experimental evidence suggests that therapeutic hypothermia is beneficial, and several clinical studies on this topic have been published. This review was originally published in 2009; updated versions were published in 2012 and 2016. OBJECTIVES: To evaluate the benefits and harms of therapeutic hypothermia after cardiac arrest in adults compared to standard treatment. SEARCH METHODS: We used standard, extensive Cochrane search methods. The latest search date was 30 September 2022. SELECTION CRITERIA: We included randomised controlled trials (RCTs) and quasi-RCTs in adults comparing therapeutic hypothermia after cardiac arrest with standard treatment (control). We included studies with adults cooled by any method, applied within six hours of cardiac arrest, to target body temperatures of 32 °C to 34 °C. Good neurological outcome was defined as no or only minor brain damage allowing people to live an independent life. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcome was 1. neurological recovery. Our secondary outcomes were 2. survival to hospital discharge, 3. quality of life, 4. cost-effectiveness and 5. ADVERSE EVENTS: We used GRADE to assess certainty. MAIN RESULTS: We found 12 studies with 3956 participants reporting the effects of therapeutic hypothermia on neurological outcome or survival. There were some concerns about the quality of all the studies, and two studies had high risk of bias overall. When we compared conventional cooling methods versus any type of standard treatment (including a body temperature of 36 °C), we found that participants in the therapeutic hypothermia group were more likely to reach a favourable neurological outcome (risk ratio (RR) 1.41, 95% confidence interval (CI) 1.12 to 1.76; 11 studies, 3914 participants). The certainty of the evidence was low. When we compared therapeutic hypothermia with fever prevention or no cooling, we found that participants in the therapeutic hypothermia group were more likely to reach a favourable neurological outcome (RR 1.60, 95% CI 1.15 to 2.23; 8 studies, 2870 participants). The certainty of the evidence was low. When we compared therapeutic hypothermia methods with temperature management at 36 °C, there was no evidence of a difference between groups (RR 1.78, 95% CI 0.70 to 4.53; 3 studies; 1044 participants). The certainty of the evidence was low. Across all studies, the incidence of pneumonia, hypokalaemia and severe arrhythmia was increased amongst participants receiving therapeutic hypothermia (pneumonia: RR 1.09, 95% CI 1.00 to 1.18; 4 trials, 3634 participants; hypokalaemia: RR 1.38, 95% CI 1.03 to 1.84; 2 trials, 975 participants; severe arrhythmia: RR 1.40, 95% CI 1.19 to 1.64; 3 trials, 2163 participants). The certainty of the evidence was low (pneumonia, severe arrhythmia) to very low (hypokalaemia). There were no differences in other reported adverse events between groups. AUTHORS' CONCLUSIONS: Current evidence suggests that conventional cooling methods to induce therapeutic hypothermia may improve neurological outcomes after cardiac arrest. We obtained available evidence from studies in which the target temperature was 32 °C to 34 °C.


Assuntos
Parada Cardíaca , Hipopotassemia , Hipotermia Induzida , Pneumonia , Adulto , Humanos , Neuroproteção , Hipopotassemia/complicações , Hipopotassemia/terapia , Parada Cardíaca/terapia , Pneumonia/terapia , Hipotermia Induzida/efeitos adversos , Hipotermia Induzida/métodos
3.
BMC Nephrol ; 24(1): 123, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37131142

RESUMO

A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves' disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis. Although with the treatment of antithyroid drugs, he developed severe hypokalemia and rhabdomyolysis (RM). Further laboratory tests revealed hypomagnesemia, hypocalciuria, metabolic alkalosis, hyperrenin, and hyperaldosteronemia. Genetic testing revealed compound heterozygous mutations in the SLC12A3 gene (c.506-1G > A, c.1456G > A) encoding the thiazide-sensitive sodium-chloride cotransporter, which presented a definitive diagnosis of Gitelman syndrome (GS). Moreover, gene analysis revealed his mother diagnosed with subclinical hypothyroidism due to Hashimoto's thyroiditis carried the c.506-1G > A heterozygous mutation in the SLC12A3 gene and his father carried the c.1456G > A heterozygous mutation in the SLC12A3 gene. His younger sister who had hypokalemia and hypomagnesemia carried the same compound heterozygous mutations as the proband and was diagnosed with GS as well, but with a much milder clinical presentation and better treatment outcome. This case suggested the potential relationship between GS and GD, clinicians should strengthen the differential diagnosis to avoid missed diagnosis.


Assuntos
Síndrome de Gitelman , Doença de Graves , Hipopotassemia , Rabdomiólise , Masculino , Feminino , Humanos , Adolescente , Síndrome de Gitelman/complicações , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Hipopotassemia/etiologia , Hipopotassemia/complicações , Mutação , Doença de Graves/complicações , Doença de Graves/diagnóstico , Doença de Graves/genética , Mães , Rabdomiólise/complicações , Rabdomiólise/diagnóstico , Membro 3 da Família 12 de Carreador de Soluto/genética
4.
Front Endocrinol (Lausanne) ; 14: 1145186, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37223051

RESUMO

Background: The systematic use of confirmatory tests in the diagnosis of primary aldosteronism (PA) increases costs, risks and complexity to the diagnostic work-up. In light of this, some authors proposed aldosterone-to-renin (ARR) cut-offs and/or integrated flow-charts to avoid this step. Patients with resistant hypertension (RH), however, are characterized by a dysregulated renin-angiotensin-aldosterone system, even in the absence of PA. Thus, it is unclear whether these strategies might be applied with the same diagnostic reliability in the setting of RH. Methods: We enrolled 129 consecutive patients diagnosed with RH and no other causes of secondary hypertension. All patients underwent full biochemical assessment for PA, encompassing both basal measurements and a saline infusion test. Results: 34/129 patients (26.4%) were diagnosed with PA. ARR alone provided a moderate-to-high accuracy in predicting the diagnosis of PA (AUC=0.908). Among normokalemic patients, the ARR value that maximized the diagnostic accuracy, as identified by the Youden index, was equal to 41.8 (ng/dL)/(ng/mL/h), and was characterized by a sensitivity and a specificity of 100% and 67%, respectively (AUC=0.882); an ARR > 179.6 (ng/dL)/(ng/mL/h) provided a 100% specificity for the diagnosis of PA, but was associated with a very low sensitivity of 20%. Among hypokalemic patients, the ARR value that maximized the diagnostic accuracy, as identified by the Youden index, was equal to 49.2 (ng/dL)/(ng/mL/h), and was characterized by a sensitivity and a specificity of 100% and 83%, respectively (AUC=0.941); an ARR > 104.0 (ng/dL)/(ng/mL/h) provided a 100% specificity for the diagnosis of PA, with a sensitivity of 64%. Conclusions: Among normokalemic patients, there was a wide overlap in ARR values between those with PA and those with essential RH; the possibility to skip a confirmatory test should thus be considered with caution in this setting. A better discriminating ability could be seen in the presence of hypokalemia; in this case, ARR alone may be sufficient to skip confirmatory tests in a suitable percentage of patients.


Assuntos
Hiperaldosteronismo , Hipertensão , Hipopotassemia , Humanos , Aldosterona , Renina , Reprodutibilidade dos Testes , Hipertensão/complicações , Hipertensão/diagnóstico , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico
5.
Medicina (Kaunas) ; 59(5)2023 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-37241122

RESUMO

Background and Objective: Cisplatin is a chemotherapy drug used to treat several types of malignancies. It is a platinum-based compound that interferes with cell division and DNA replication. Cisplatin has been associated with renal damage. This study evaluates the early detection of nephrotoxicity through routine laboratory tests. Materials and Methods: This is a retrospective chart review based on the Saudi Ministry of National Guard Hospital (MNGHA). We evaluated deferential laboratory tests for cancer patients treated with cisplatin between April 2015 and July 2019. The evaluation included age, sex, WBC, platelets, electrolytes, co-morbidities and interaction with radiology. Results: The review qualified 254 patients for evaluation. Around 29 patients (11.5%) had developed kidney function abnormality. These patients presented with abnormally low magnesium 9 (31%), potassium 6 (20.7%), sodium 19 (65.5%) and calcium 20 (69%). Interestingly, the whole sample size had abnormal electrolytes presenting magnesium 78 (30.8%), potassium 30 (11.9%), sodium 147 (58.1%) and calcium 106 (41.9%). Some pathological features were detected, such as hypomagnesemia, hypocalcemia and hypokalemia. In addition, infections that needed antibiotics were dominant in patients treated with cisplatin alone, representing 50% of this group. Conclusions: We report that an average of 15% of patients with electrolyte abnormalities develop renal toxicity and reduced function. Moreover, electrolytes may serve as an early indicator for renal damage as part of chemotherapy complication. This indication represents 15% of renal toxicity cases. Changes in electrolyte levels have been reported with cisplatin. Specifically, it has been linked to hypomagnesemia, hypocalcemia and hypokalemia. This study will help reduce the risk of dialysis or the need for kidney transplant. It is also important to manage any underlying conditions and control patients' intake of electrolytes.


Assuntos
Hipocalcemia , Hipopotassemia , Neoplasias , Humanos , Cisplatino/efeitos adversos , Hipocalcemia/induzido quimicamente , Hipocalcemia/complicações , Estudos Retrospectivos , Magnésio , Hipopotassemia/induzido quimicamente , Cálcio , Diálise Renal/efeitos adversos , Rim , Eletrólitos/uso terapêutico , Neoplasias/complicações , Neoplasias/tratamento farmacológico , Sódio , Potássio
6.
Ann Med ; 55(1): 2209336, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37162442

RESUMO

BACKGROUND: Hypokalaemia is a side-effect of diuretics. We aimed to use machine learning to identify features predicting hypokalaemia risk in hypertensive patients. METHODS: Participants with hypertension in the United States National Health and Nutrition Examination Survey 1999-2018 were included for analysis. To select the most suitable algorithm, we tested and evaluated five machine learning algorithms commonly employed in epidemiological studies: Logistic Regression, k-Nearest Neighbor, Random Forest, Recursive Partitioning and Regression Trees, and eXtreme Gradient Boosting. These algorithms were accessed using a set of 38 screened features. We then selected the key hypokalaemia-associated features in the hypertension group and their cardiovascular diseases (CVD) subgroup using the SHapley Additive exPlanations (SHAP) values. Using SHAP values, the key features and their impact pattern on hypokalaemia risk were determined. RESULTS: A total of 25,326 hypertensive participants were included for analysis, of whom 4,511 had known CVD. The Random Forest algorithm had the highest AUROC (hypertension dataset: 0.73 [95%CI, 0.71-0.76]; CVD subgroup: 0.72 [95%CI, 0.66-0.78]). Moreover, the nomogram based on the top twelve key features screened by random forest retained good performance: age, sex, race, poverty income ratio, body mass index, systolic and diastolic blood pressure, non-potassium-sparing diuretics use and duration, renin-angiotensin blockers use and duration, and CVD history in hypertension dataset; while in CVD subgroup, the additional key features were comorbid diabetes, education level, smoking status, and use of bronchodilators. CONCLUSION: Our predictive model based on the random forest algorithm performed best among the tested and evaluated five algorithms. Hypokalaemia-associated key features have been identified in hypertensive patients and the subgroup with CVD. These findings from machine learning facilitate the development of artificial intelligence to highlight hypokalaemia risk in hypertension patients.


Our predictive model based on the random forest algorithm performed best among the tested and evaluated five algorithms, and hypokalemia-associated key features have been identified in hypertensive patients and the subgroup with cardiovascular disease.The nomogram we developed including twelve key features might be useful and applied in primary clinical consultations to identify the hypertensive patients at risk of hypokalaemia.These findings from machine learning facilitate the development of artificial intelligence to highlight hypokalaemia risk in hypertension patients.


Assuntos
Doenças Cardiovasculares , Hipertensão , Hipopotassemia , Humanos , Inteligência Artificial , Hipopotassemia/epidemiologia , Inquéritos Nutricionais , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Algoritmos , Aprendizado de Máquina , Diuréticos
7.
Blood Press ; 32(1): 2209664, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37183447

RESUMO

BACKGROUND: Primary aldosteronism (PA) is considered the number one aetiology for secondary hypertension. Apart from confirmatory tests and localisation of PA determined by computed tomography (CT), adrenal venous sampling (AVS) is used to define whether aldosterone hypersecretion occurs inside one or both adrenal glands. However, even correctly-performed AVS may lead to undiagnostic results such as apparent bilateral adrenal suppression (apparent bilateral aldosterone suppression), in which the adrenal aldosterone-to-cortisol ratios (AC ratios) are decreased bilaterally compared to the peripheral blood sample, with several causes contributing to it. CASE DESCRIPTION: Here, we describe the case of a 48-year-old man who was referred to our department for further investigation with a history of refractory hypertension, hypokalaemia, and aortic dissection. His hypertension and hypokalaemia were initially attributed to ectopic aldosteronoma due to his adrenal CT scan and AVS results. However, the correct diagnosis of an adenoma with duplicated right adrenal veins (duplicated adrenal veins) due to apparent bilateral aldosterone suppression was confirmed during surgery. CONCLUSION: AVS is the gold standard accepted for PA subtyping, but sometimes when apparent bilateral aldosterone suppression is present, it can give ambiguous results. Duplicated right adrenal veins, may impact results, thus, AVS may not accurately provide evidence of unilateral hypersecretion for all PA patients. Repeat AVS or adrenal surgery can provide worthwhile diagnostic conclusions.


The recognition and diagnosis of primary aldosteronism (PA) have increased in recent years and clinicians usually require adrenal venous sampling (AVS) to identify the affected side, and it's crucial for further treatments of PA patients (surgery or medicine).We presented an example of unilateral aldosteronoma with duplicated adrenal veins whose AVS results suggested apparent bilateral aldosterone suppression (the adrenal venous aldosterone/cortisol ratios are bilaterally lower than the peripheral ratios). He was misdiagnosed with ectopic aldosteronoma due to computed tomography (CT) features, but surgery findings revealed duplicated adrenal veins.Unclear AVS results such as apparent bilateral aldosterone suppression can lead to a missed diagnosis of unilateral PA, preventing patients from receiving potentially curative adrenal resection.Our case can serve as an example for clinicians that encounter the same condition to provide further investigational clues to ensure the correct aetiological diagnosis for patients with PA.


Assuntos
Hiperaldosteronismo , Hipertensão , Hipopotassemia , Masculino , Humanos , Pessoa de Meia-Idade , Aldosterona , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico , Hipopotassemia/complicações , Veias , Glândulas Suprarrenais/diagnóstico por imagem , Glândulas Suprarrenais/irrigação sanguínea , Hipertensão/complicações , Erros de Diagnóstico/efeitos adversos , Estudos Retrospectivos
8.
BMC Nephrol ; 24(1): 98, 2023 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-37061666

RESUMO

BACKGROUND: Membranous glomerulonephritis is the most common primary etiology for the nephrotic syndrome in adults. Beyond the clinical hallmark of nephrotic syndrome such as fluid overloading, dyslipidemia and hypoalbuminemia, the dysregulated homeostasis of potassium and its possible mechanism is seldomly discussed, and its association with the clinical course of membranous GN is lacking. CASE PRESENTATION: A 65 year-old female attended to our emergent department for progressive lower leg edema after taking 15-h of flight. Hypoalbuminemia and hyperlipidemia were both noted, and 24-h urinary total protein was up to 17,950 mg/day. Elevated creatin-phospho-kinase developed at the initial presentation with hypokalemia due to excressive renal excretion. Glycosuria without elevated glycated Hemoglobin occurred. The pathology of kidney biopsy revealed subepithelial immunocomplex deposits with spike formation in the electron microscopy and the positive anti-Phosphlipase A2 receptor antibodies(PLA-2R) with hallmark of membranous glomerulonephritis. In the light microscopy, the vacuolization of proximal tubules was noted, which contributed to the potassium wasting. After 1 year following up duration, the patient's proteinuria persisted after maintenance treatment with calcineurin inhibitor. CONCLUSION: Hypokalemia is a neglected issue in the membranous glomerulonephritis. Unlike the previous literature, our patient had the vacuolization of proximal tubule at the initial presentation with hypokalemia, which might contribute the potassium wasting. The proximal tubular damage with hypokalemia might be a predictive factor for membranous glomerulonephritis.


Assuntos
Glomerulonefrite Membranosa , Glomerulonefrite , Hipoalbuminemia , Hipopotassemia , Síndrome Nefrótica , Adulto , Feminino , Humanos , Idoso , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/diagnóstico , Síndrome Nefrótica/complicações , Glomerulonefrite/patologia , Hipopotassemia/complicações , Anticorpos , Potássio/uso terapêutico
9.
Blood Press ; 32(1): 2195008, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37088984

RESUMO

Aim: 17 α-hydroxylase/17,20-lyase deficiency (17-OHD) is an extremely rare autosomal recessive disorder that typically causes hypertension, hypokalaemia, primary amenorrhoea, and the absence of secondary sex characteristics in 46,XX individuals. Partial 17-OHD is even rarer than complete 17-OHD and is prone to missed diagnosis due to its subtler symptoms. The aim of this study was to help early detection and diagnosis of partial 17-OHD.Methods: We present a case of a 41-year-old female (46,XX) patient with partial 17-OHD caused by a novel missense CYP17A1 mutation, c.391 A > C (p.T131P). This patient experienced hypertension, hypokalaemia and adrenal hyperplasia, but did not present with primary amenorrhoea or absence of secondary sex characteristics. Initially, she was misdiagnosed and underwent right and left adrenalectomy, but the procedures were ineffective. Afterward, she received a one-month treatment of 0.5 mg dexamethasone, which greatly relieved her symptoms. Additionally, we reviewed reports of thirteen other patients with partial 17-OHD in 46,XX individuals from the literature, totalling fourteen probands.Results: We found that primary amenorrhoea, hypertension, hypokalaemia, and ovarian cysts accounted for 15.4%, 42.9%, 38.5%, and 72.7% of these patients, respectively. In contrast, elevated serum progesterone was present in all patients.Conclusion: Based on our literature review, the absence of primary amenorrhoea, hypertension or hypokalaemia cannot rule out suspicion for 17-OHD in 46,XX individuals. However, an elevation in serum progesterone levels is a highly sensitive indicator for diagnosing 17-OHD.


What is the context?17-OHD is a rare cause of secondary hypertension, often with hypokalaemia, primary amenorrhoea and absence of secondary sex characteristics.Partial 17-OHD is an even rarer subtype of 17-OHD, with subtler symptoms.There are few reports concerning partial 17-OHD, especially in 46,XX patients.What is new?We reported a case of a 46,XX patient with partial 17-OHD caused by a novel missense CYP17A1 mutation, c.391 A > C (p.T131P).We also conducted a literature review to summarise the clinical, hormonal and genetic characteristics of fourteen 46,XX probands with partial 17-OHD.From the literature review, we found that:Most 46,XX patients with partial 17-OHD presented with partial pubic hair, breast development, oligomenorrhea or secondary amenorrhoea, normotension, and/or normokalemia.All 46,XX patients with partial 17-OHD presented with elevated serum progesterone.However, the relationship between in vitro enzyme activities of the 17-hydroxylase and/or17,20-lyase and clinical severity is still unclear.What is the impact?The current study can help early detection and diagnosis of partial 17-OHD.


Assuntos
Hipertensão , Hipopotassemia , Feminino , Humanos , Adulto , Esteroide 17-alfa-Hidroxilase/genética , Progesterona , Amenorreia/genética , Mutação de Sentido Incorreto , Hipertensão/genética
10.
Medicine (Baltimore) ; 102(15): e33509, 2023 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-37058043

RESUMO

RATIONALE: Giltelman syndrome (GS) is an autosomal recessive infectious disease, which is caused by the mutation of SLC12A3 gene encoding thiazide diuretic sensitive sodium chloride cotransporter located in the distal convoluted tubule of the kidney. PATIENT CONCERNS: A 7-year-old and 3-month-old male patient has poor appetite, slow growth in height and body weight since the age of 3, body weight: 16 kg (-3 standard deviation), height: 110 cm (-3 standard deviation), normal exercise ability and intelligence. One year ago, he was diagnosed with hypokalemia. After potassium supplement treatment, the blood potassium returned to normal. The patient developed abdominal pain, vomiting, limb weakness, and tetany 1 day before admission. DIAGNOSES: After admission examination, the patient was found to have hypokalemia (2.27-2.88 mmol/L), hypomagnesemia (0.47 mmol/L), hypophosphatemia (1.17 mmol/L), hypocalcemia (1.06 mmol/24 hours), and metabolic alkalosis (PH 7.60). The blood pressure is normal, and the concentration of aldosterone is 791.63 pg/mL. The adrenocorticotropic hormone and cortisol detected at 8 am are 4.95 pmol/L and 275.09 nmol/L, respectively. Twenty-four hours of urine potassium is 32.52 mmol. Gene sequencing results showed 2 pathogenic variants in the GS-related SLC12A3 gene, which are related to the phenotype of the subject. INTERVENTIONS: After admission, the patients were given potassium and magnesium supplements, as well as oral spironolactone. The symptoms of limb weakness and tetany were significantly relieved. After discharge, the patients continued to maintain treatment to keep the blood potassium at more than 3.0 mmol/L, and the blood magnesium at more than 0.6 mmol/L. OUTCOMES: Follow-up at 1 month after discharge, in the patient's self-description, he had no symptoms such as limb weakness and tetany, and his height was increased by 1 cm and the body weight increased by 1.5 kg. LESSONS: For patients with hypokalemia, hypomagnesemia, and metabolic alkalosis, the possibility of GS should be given priority. After the diagnosed by gene sequencing of SLC12A3 gene, potassium and magnesium supplementation could significantly improve symptoms.


Assuntos
Alcalose , Síndrome de Gitelman , Hipopotassemia , Tetania , Masculino , Humanos , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Hipopotassemia/etiologia , Hipopotassemia/diagnóstico , Magnésio , Tetania/complicações , Membro 3 da Família 12 de Carreador de Soluto/genética , Debilidade Muscular , Potássio , Peso Corporal
11.
Sheng Li Xue Bao ; 75(2): 216-230, 2023 Apr 25.
Artigo em Chinês | MEDLINE | ID: mdl-37089096

RESUMO

Virtually all of the dietary potassium intake is absorbed in the intestine, over 90% of which is excreted by the kidneys regarded as the most important organ of potassium excretion in the body. The renal excretion of potassium results primarily from the secretion of potassium by the principal cells in the aldosterone-sensitive distal nephron (ASDN), which is coupled to the reabsorption of Na+ by the epithelial Na+ channel (ENaC) located at the apical membrane of principal cells. When Na+ is transferred from the lumen into the cell by ENaC, the negativity in the lumen is relatively increased. K+ efflux, H+ efflux, and Cl- influx are the 3 pathways that respond to Na+ influx, that is, all these 3 pathways are coupled to Na+ influx. In general, Na+ influx is equal to the sum of K+ efflux, H+ efflux, and Cl- influx. Therefore, any alteration in Na+ influx, H+ efflux, or Cl- influx can affect K+ efflux, thereby affecting the renal K+ excretion. Firstly, Na+ influx is affected by the expression level of ENaC, which is mainly regulated by the aldosterone-mineralocorticoid receptor (MR) pathway. ENaC gain-of-function mutations (Liddle syndrome, also known as pseudohyperaldosteronism), MR gain-of-function mutations (Geller syndrome), increased aldosterone levels (primary/secondary hyperaldosteronism), and increased cortisol (Cushing syndrome) or deoxycorticosterone (hypercortisolism) which also activate MR, can lead to up-regulation of ENaC expression, and increased Na+ reabsorption, K+ excretion, as well as H+ excretion, clinically manifested as hypertension, hypokalemia and alkalosis. Conversely, ENaC inactivating mutations (pseudohypoaldosteronism type 1b), MR inactivating mutations (pseudohypoaldosteronism type 1a), or decreased aldosterone levels (hypoaldosteronism) can cause decreased reabsorption of Na+ and decreased excretion of both K+ and H+, clinically manifested as hypotension, hyperkalemia, and acidosis. The ENaC inhibitors amiloride and Triamterene can cause manifestations resembling pseudohypoaldosteronism type 1b; MR antagonist spironolactone causes manifestations similar to pseudohypoaldosteronism type 1a. Secondly, Na+ influx is regulated by the distal delivery of water and sodium. Therefore, when loss-of-function mutations in Na+-K+-2Cl- cotransporter (NKCC) expressed in the thick ascending limb of the loop and in Na+-Cl- cotransporter (NCC) expressed in the distal convoluted tubule (Bartter syndrome and Gitelman syndrome, respectively) occur, the distal delivery of water and sodium increases, followed by an increase in the reabsorption of Na+ by ENaC at the collecting duct, as well as increased excretion of K+ and H+, clinically manifested as hypokalemia and alkalosis. Loop diuretics acting as NKCC inhibitors and thiazide diuretics acting as NCC inhibitors can cause manifestations resembling Bartter syndrome and Gitelman syndrome, respectively. Conversely, when the distal delivery of water and sodium is reduced (e.g., Gordon syndrome, also known as pseudohypoaldosteronism type 2), it is manifested as hypertension, hyperkalemia, and acidosis. Finally, when the distal delivery of non-chloride anions increases (e.g., proximal renal tubular acidosis and congenital chloride-losing diarrhea), the influx of Cl- in the collecting duct decreases; or when the excretion of hydrogen ions by collecting duct intercalated cells is impaired (e.g., distal renal tubular acidosis), the efflux of H+ decreases. Both above conditions can lead to increased K+ secretion and hypokalemia. In this review, we focus on the regulatory mechanisms of renal potassium excretion and the corresponding diseases arising from dysregulation.


Assuntos
Alcalose , Síndrome de Bartter , Síndrome de Gitelman , Hiperpotassemia , Hipertensão , Hipopotassemia , Pseudo-Hipoaldosteronismo , Humanos , Síndrome de Bartter/genética , Síndrome de Bartter/metabolismo , Pseudo-Hipoaldosteronismo/genética , Pseudo-Hipoaldosteronismo/metabolismo , Potássio/metabolismo , Aldosterona/metabolismo , Hipopotassemia/metabolismo , Síndrome de Gitelman/metabolismo , Hiperpotassemia/metabolismo , Relevância Clínica , Canais Epiteliais de Sódio/genética , Canais Epiteliais de Sódio/metabolismo , Túbulos Renais Distais/metabolismo , Sódio/metabolismo , Alcalose/metabolismo , Água/metabolismo , Rim/metabolismo
12.
Mymensingh Med J ; 32(2): 403-411, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37002751

RESUMO

Stroke, usually a focal rather than global neurological deficit resulting from vascular origin with sudden onset, may be with cerebral infarction or intracerebral haemorrhage. It results in brain oedema following vascular injury and electrolyte imbalance. A descriptive cross sectional study was carried out in the Department of Medicine, Mymensingh Medical College Hospital, Mymensingh, Bangladesh during March 2016 to May 2018 to assess the electrolyte levels among 220 purposively selected patients with stroke confirmed by CT scan. Data were collected by the principal investigator himself by using interview schedule and case record form after attaining consent. Blood samples were collected from the patients to carry out biochemical and haematological tests and to assess serum electrolyte levels. Data were cross-checked for completeness, consistency and relevancy, and were analyzed by computer software SPSS 20.0. Age was significantly higher in haemorrhagic stroke (64.88±13.00 years) than ischaemic stroke (60.92±13.96 years). Male (55.91%) were predominant than female (44.09%). One hundred nineteen (54.09%) patients had ischaemic stroke and 101(45.91%) patients had haemorrhagic stroke. The serum concentration of Na+, K+, Cl- and HCO3- were measured during acute period of stroke. Imbalance in serum Sodium, Chloride, Potassium and Bicarbonate level were observed in 37.27%, 29.55%, 23.18% and 6.36% patients respectively. Hyponatremia, hypokalemia, hypochloremia and acidosis were most common electrolyte imbalance in both ischaemic and haemorrhagic strokes. In ischaemic stroke hyponatremia was 35.29%, hypernatremia was 3.36%, hypokalemia 19.33%, hyperkalemia 0.84%, hypochloraemia 30.25%, hyperchloraemia 3.36%, acidosis was in 6.72% and alkalosdis in 1.68% patients while in haemorrhagic stroke hyponatremia 33.66%, hypernatremia 1.98%, hypokalaemia 22.77% hyperkalemia 3.96%, hypochloremia 19.80%, hyperchloraemia 4.95%, acidosis 2.97% and alkalosis was in 0.99% of patients. Mortality was more in hyponatremic, hypokalemic and in hypochloremic patients.


Assuntos
Desequilíbrio Ácido-Base , Acidose , Isquemia Encefálica , Acidente Vascular Cerebral Hemorrágico , Hiperpotassemia , Hipernatremia , Hipopotassemia , Hiponatremia , AVC Isquêmico , Acidente Vascular Cerebral , Desequilíbrio Hidroeletrolítico , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/epidemiologia , Hipopotassemia/complicações , Hipopotassemia/epidemiologia , Hiponatremia/complicações , Hiponatremia/epidemiologia , Hipernatremia/epidemiologia , Hipernatremia/etiologia , Estudos Transversais , Centros de Atenção Terciária , Eletrólitos
13.
BMJ Case Rep ; 16(4)2023 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-37041041

RESUMO

A woman in her 20s presented with rapidly progressive muscle weakness and a 1-month preceding history of fatigability, nausea and vomiting. She was found to have critical hypokalaemia (K+ 1.8 mmol/L), a prolonged corrected QT interval (581 ms) and a normal anion gap metabolic acidosis (pH 7.15) due to zonisamide-induced distal (type 1) renal tubular acidosis. She was admitted to the intensive care unit for potassium replacement and alkali therapy. Clinical and biochemical improvement ensued, and she was discharged after a 27-day inpatient stay.


Assuntos
Acidose Tubular Renal , Acidose , Hipopotassemia , Feminino , Humanos , Acidose Tubular Renal/induzido quimicamente , Hipopotassemia/induzido quimicamente , Zonisamida/efeitos adversos , Debilidade Muscular/induzido quimicamente
14.
Eur Rev Med Pharmacol Sci ; 27(5): 1767-1773, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36930492

RESUMO

BACKGROUND: Primary hypokalemic periodic paralysis (HypoPP), a rare skeletal muscle channelopathy resulting in episodic muscle weakness or paralysis under hypokalemic conditions, is caused by autosomal-dominant genetic mutations. HypoPP limits physical activity, and cardiac arrhythmias during paralytic attacks have been reported. We describe a rare familial HypoPP case complicated by sinus arrest and syncope requiring urgent temporary pacemaker implantation. CASE REPORT: A 27-year-old Vietnamese man with a family history of periodic paralysis presented with his third attack of muscle weakness triggered by intense football training the previous day. Clinical and laboratory features justified a HypoPP diagnosis. During intravenous potassium replacement, the patient experienced syncopal sinus arrest requiring urgent temporary pacemaker implantation. The patient gradually improved, responding favorably to oral potassium supplements. Genetic testing revealed an Arg1132Gln mutation in the sodium ion channel (SCN4A, chromosome 17: 63947091). At discharge, the patient received expert consultation regarding nonpharmacological preventive strategies, including avoidance of vigorous exercise and carbohydrate-rich diet. CONCLUSIONS: No evidence has established a relationship between hypokalemia and sinus arrest, and no specific treatment exists for familial HypoPP due to SCN4A mutation. Clinician awareness of this rare condition will promote appropriate diagnostic approaches and management strategies for acute paralytic attacks. Treatment should be tailored according to HypoPP phenotypes and genotypes.


Assuntos
Hipopotassemia , Paralisia Periódica Hipopotassêmica , Humanos , Paralisia Periódica Hipopotassêmica/diagnóstico , Paralisia Periódica Hipopotassêmica/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Mutação , Potássio , Debilidade Muscular
16.
Rinsho Ketsueki ; 64(2): 83-90, 2023.
Artigo em Japonês | MEDLINE | ID: mdl-36990737

RESUMO

Hypokalemia is common in allogeneic hematopoietic stem cell transplantation (allo-HCT) patients and is associated with non-relapse mortality (NRM). Therefore, it is extremely important to replace potassium adequately. We evaluated the safety and efficacy of potassium replacement therapy by retrospectively analyzing the incidence and severity of hypokalemia in 75 patients who received allo-HCT at our institution. 75% of patients developed hypokalemia during the allo-HSCT, and 44% of patients had grade 3-4 levels of hypokalemia. NRM was significantly higher in patients with grade 3-4 hypokalemia than in patients without severe hypokalemia (one-year NRM: 30% vs 7%, p=0.008). Although 75% of the patients required potassium replacement that exceeded the range of potassium chloride solutions package inserts in Japan, we did not experience any adverse events associated with hyperkalemia. Our current observations suggested that the Japanese package insert for potassium solution injection should be revised for potassium needs.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Hipopotassemia , Humanos , Estudos Retrospectivos , Potássio , Hipopotassemia/etiologia , Transplante Homólogo/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos
17.
Biochem Biophys Res Commun ; 655: 82-89, 2023 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-36933311

RESUMO

BACKGROUND: Torsade de pointes is a potentially lethal polymorphic ventricular tachyarrhythmia that can occur in the setting of long QT syndrome (LQTS). LQTS is multi-hit in nature and multiple factors combine their effects leading to increased arrhythmic risk. While hypokalemia and multiple medications are accounted for in LQTS, the arrhythmogenic role of systemic inflammation is increasingly recognized but often overlooked. We tested the hypothesis that the inflammatory cytokine interleukin(IL)-6 will significantly increase the incidence of arrhythmia when combined with other pro-arrhythmic conditions (hypokalemia and the psychotropic medication, quetiapine). METHODS: Guinea pigs were injected intraperitoneally with IL-6/soluble IL-6 receptor and QT changes were measured in vivo. Subsequently, hearts were cannulated via Langendorff perfusion for ex vivo optical mapping measurements of action potential duration (APD90) and arrhythmia inducibility. Computer simulations (MATLAB) were performed to investigate IKr inhibition at varying IL-6 and quetiapine concentrations. RESULTS: IL-6 prolonged QTc in vivo guinea pigs from 306.74 ± 7.19 ms to 332.60 ± 8.75 ms (n = 8, p = .0021). Optical mapping on isolated hearts demonstrated APD prolongation in IL-6- vs saline groups (3Hz APD90:179.67 ± 2.47 ms vs 153.5 ± 7.86 ms, p = .0357). When hypokalemia was introduced, the APD90 increased to 195.8 ± 5.02 ms[IL-6] and 174.57 ± 10.7 ms[saline] (p = .2797), and when quetiapine was added to hypokalemia to 207.67 ± 3.03 ms[IL-6] and 191.37 ± 9.49 ms[saline] (p = .2449). After the addition of hypokalemia ± quetiapine, arrhythmia was induced in 75% of IL-6-treated hearts (n = 8), while in none of the control hearts (n = 6). Computer simulations demonstrated spontaneous depolarizations at ∼83% aggregate IKr inhibition. CONCLUSIONS: Our experimental observations strongly suggest that controlling inflammation, specifically IL-6, could be a viable and important route for reducing QT prolongation and arrhythmia incidence in the clinical setting.


Assuntos
Hipopotassemia , Síndrome do QT Longo , Torsades de Pointes , Animais , Cobaias , Torsades de Pointes/induzido quimicamente , Citocinas , Fumarato de Quetiapina , Interleucina-6 , Arritmias Cardíacas , Síndrome do QT Longo/induzido quimicamente , Inflamação/complicações , Eletrocardiografia
18.
BMC Nephrol ; 24(1): 70, 2023 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-36964512

RESUMO

BACKGROUND: Hypokalemic periodic paralysis (HPP) is a rare channelopathy characterized by episodic attacks of acute muscle weakness concomitant with hypokalemia. The etiology of hypokalemia is the shift of potassium into the cells, and the clinical symptoms resolve when potassium starts to leak back to the serum. Most of the time, the underlying ion channel defects are well compensated, and an additional trigger is often required to initiate an attack. Well-known trigger factors include carbohydrate-rich meals, exercise followed by rest, stress, cold weather, and alcohol consumption. CASE PRESENTATION: Here, we present the case of a 26-year-old Asian man who suffered from an acute onset of bilateral lower limb weakness with hypokalemia following dexamethasone injection. He was diagnosed with HPP. CONCLUSIONS: We would like to remind physicians to think of steroids as an unusual precipitating factor while managing patients with HPP, per results of this case study.


Assuntos
Hipopotassemia , Paralisia Periódica Hipopotassêmica , Masculino , Humanos , Adulto , Paralisia Periódica Hipopotassêmica/induzido quimicamente , Paralisia Periódica Hipopotassêmica/diagnóstico , Hipopotassemia/induzido quimicamente , Hipopotassemia/diagnóstico , Hipopotassemia/complicações , Potássio , Debilidade Muscular/complicações , Esteroides
19.
Zhonghua Yi Xue Za Zhi ; 103(10): 727-732, 2023 Mar 14.
Artigo em Chinês | MEDLINE | ID: mdl-36889685

RESUMO

Objective: To investigate the relationship between different serum potassium levels at admission and discharge and all-cause mortality in patients with acute heart failure (HF). Methods: A total of 2 621 patients with acute HF who were hospitalized in the Heart Failure Center of Fuwai Hospital from October 2008 to October 2017 were analyzed. Patients were divided into three groups according to the different serum potassium levels at admission: hypokalemia with serum potassium<3.5 mmol/L (n=329), normokalemia with 3.5-5.5 mmol/L (n=2 270), and hyperkalemia with serum potassium>5.5 mmol/L (n=22). Clinical data such as patient history, comorbidities, clinical examination and drug use were collected, and systematic outpatient review or telephone follow-up was performed after patients were discharged from the hospital until January 2020. The primary outcome was all-cause death at 90 days, 2 years, and 5 years of follow-up. We compared the clinical characteristics of patients with different serum potassium levels at admission and discharge, and used a multivariate Cox proportional hazards regression model to analyze the association between serum potassium levels at admission and discharge and all-cause mortality. Results: The age of all patients was (58.0±15.3) years old, and 1 877 patients (71.6%) were male. There were 329 (12.6%) and 22 (0.8%) patients with hypokalemia and hyperkalemia at admission, and 38 (1.4%) and 18 (0.7%) at discharge, respectively. The serum potassium levels of all patients were (4.01±0.50) and (4.25±0.44) mmol/L at admission and discharge, respectively. The follow-up time[M(Q1,Q3)] of this study was 2.63(1.00,4.42)years, and a total of 1 076 all-cause deaths were recorded at the last follow-up. Compared with patients with normokalemia at discharge, discharged patients with hypokalemia and hyperkalemia were followed up for 90 days (90.3% vs 76.3% vs 38.9%), 2 years (73.8% vs 60.5% vs 33.3%) and 5 years (63.4% vs 44.7% vs 22.2%), respectively, and the difference of which in cumulative survival rates were statistically significant (all P values<0.001). The multivariate-adjusted Cox regression analysis showed that hypokalemia (HR=0.979, 95%CI: 0.812-1.179, P=0.820) and hyperkalemia (HR=1.368, 95%CI: 0.805-2.325, P=0.247) at admission were not associated with all-cause mortality risk, however, hypokalemia (HR=1.668, 95%CI: 1.081-2.574, P=0.021) and hyperkalemia (HR=3.787, 95%CI: 2.264-6.336, P<0.001) at discharge were associated with increased all-cause mortality risk. Conclusions: Both hypokalemia and hyperkalemia at discharge in hospitalized patients with acute HF were associated with increased short-and long-term all-cause mortality, and serum potassium levels should be closely monitored.


Assuntos
Insuficiência Cardíaca , Hiperpotassemia , Hipopotassemia , Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Hipopotassemia/complicações , Hipopotassemia/diagnóstico , Hiperpotassemia/complicações , Potássio , Modelos de Riscos Proporcionais , Insuficiência Cardíaca/complicações
20.
BMJ Case Rep ; 16(3)2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36948522

RESUMO

Panic attacks have been associated with hypophosphatemia, which can lead to numerous complications if unrecognised. Here, we present the case of an otherwise-healthy man in his 20s who experienced a panic attack accompanied by hypophosphatemia and hypokalaemia and subsequently developed rhabdomyolysis. This trajectory highlights the clinical significance of panic attack-associated metabolic derangements and their potential for medical complications such as rhabdomyolysis.


Assuntos
Hipopotassemia , Hipofosfatemia , Transtorno de Pânico , Masculino , Humanos , Transtorno de Pânico/complicações , Hipopotassemia/complicações , Hipofosfatemia/complicações , Pânico
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