Primary Hyperaldosteronism in a Male Patient: A Case Report.

Many individuals who develop hypertension are usually diagnosed with primary hypertension, but not all are screened for secondary hypertension. Primary hyperaldosteronism is often a leading cause of secondary hypertension, particularly in individuals who develop hypertension at an early age. The sudden onset of hypokalemia in a hypertensive patient warrants evaluation for underlying etiologies. Primary hyperaldosteronism [primary aldosteronism (PA)] leads to greater end-organ damage and is linked with increased cardiovascular complications such as left ventricular hypertrophy (LVH), heart failure (HF), cerebrovascular accident (CVA), nonfatal myocardial infarction, and atrial fibrillation (AF) when compared to primary hypertension. Primary hyperaldosteronism is an underdiagnosed condition as it does not have any specific, easily identifiable features, and physicians can overlook the disease.

Severe hydronephrosis complicated with primary aldosteronism: a case report and review of the literature.

BACKGROUND: Primary aldosteronism is characterized by high plasma aldosterone and low renin. The plasma aldosterone-to-renin ratio is recommended for screening. Severe hydronephrosis leads to renal parenchymal ischemia, resulting in increased renin secretion. Since nonsuppression of renin may cause a negative result in the aldosterone-to-renin ratio test, severe hydronephrosis and primary aldosteronism occurring simultaneously in a patient are challenging to diagnose. CASE PRESENTATION: A 54-year-old Chinese man of Han ethnicity was diagnosed with hypertension and severe hypokalemia (minimum 1.57 mmol/L) 13 years prior, and was also diagnosed with severe hydronephrosis due to congenital ureteral stenosis on the left side. His clinical features suggested primary aldosteronism, but the aldosterone-to-renin ratio result of the patient was negative every time he underwent the primary aldosteronism screening test. No further treatment for primary aldosteronism was performed, which led the patient to suffer from severe hypokalemia, such that he was taking 12-15 g/day potassium chloride orally to keep his blood potassium between 3.0 and 3.5 mmol/L (reference value, 3.5-5.5 mmol/L) for 13 years, and the patient needed to be hospitalized in the intensive care unit for rescue several times. At admission, although the aldosterone-to-renin ratio result of the patient was negative, we still did the saline stress test and captopril inhibition test, and the results showed that the plasma aldosterone level was not lower after the test than before the test. Adrenal enhanced computed tomography suggested an adenoma in the left adrenal gland, and the results of adrenal vein sampling suggested that the left side was the dominant side. Therefore, laparoscopic total resection of the left adrenal gland was performed, and 2 weeks later, the patient developed short-term renal function impairment and hyperkalemia, but his renal function and blood potassium returned to normal after treatment that included fluid rehydration. The patient's biochemical test results and clinical symptoms were completely normal after 1 year. CONCLUSION: We suggest that for patients with a high suspicion of primary aldosteronism in the clinic, comprehensive analysis must be performed in combination with clinical characteristic assessments, such as severe hydronephrosis, if renin is within the normal range or if the aldosterone-to-renin ratio result is negative at screening and diagnostic tests, and adrenal vein sampling should be performed if necessary. It can help avoid misdiagnoses and contribute to the treatment of patients with severe hydronephrosis and primary aldosteronism.

The Perfect Storm: Abnormal Baseline QT With Chronic Methadone Use and Serious Hypokalemia.

Methadone, a well-known drug used for pain control and as a treatment for opioid addiction, can cause arrhythmias, including torsades de pointes (TdP), which may progress to ventricular fibrillation and sudden death. We present a case of a middle-aged woman with a long history of methadone use who presented to the emergency department after experiencing cardiac arrest at home. During her hospitalization, she experienced multiple episodes of TdP that improved with isoproterenol and potassium correction. The initial diagnosis was methadone-induced prolonged QT. However, even with discontinuation of methadone, her QTc remained prolonged. Congenital long QT syndrome was suspected, and genetic testing was instructed to test in the outpatient setting. She was discharged on nadolol and a LifeVest.

Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.

BACKGROUND: Renal hypokalemia is associated with mutation. This study aimed to investigate the clinical features and pathogenic mutations in patients with renal hypokalemia. METHODS: The patients with hypokalemia were enrolled, and the renal function, thyroid function, renin-aldosterone system, urinary potassium excretion, and exome sequencing were performed. The correlation between the clinical phenotypes and causative genes was assessed. RESULTS: Five patients with hypokalemia were enrolled and diagnosed as tubular hypokalemia. The patients with common clinical manifestations were difficult to differentiate based on atypical laboratory findings. The results of the genetic analysis were as follows: both patient 1 and patient 2 were heterozygous for the c.C625T mutation of the KCNJ1 gene, which is responsible for Bartter syndrome. Patient 3 was heterozygous for the c.G298A mutation of the ATP6V1B1 gene, which is responsible for renal tubular acidosis. Patient 4 had a compound heterozygous mutation of c.G893A of the BSND gene, responsible for Bartter syndrome, and c.1029+5G>A, the ATP6V0A4 gene responsible for distal renal tubular acidosis. Patient 5 had Gitelman syndrome and carried the compound heterozygous mutations c.C1963T and c.G2029A of the SLC12A3 gene. All the above loci were known heterozygous mutations. CONCLUSIONS: The unusual heterozygous mutations were identified in five renal hypokalemia patients. Molecular diagnosis of tubular hypokalemia was conducive to accurate diagnosis and treatment.

Development of deep learning algorithm for detecting dyskalemia based on electrocardiogram.

Dyskalemia is a common electrolyte abnormality. Since dyskalemia can cause fatal arrhythmias and cardiac arrest in severe cases, it is crucial to monitor serum potassium (K+) levels on time. We developed deep learning models to detect hyperkalemia (K+ ≥ 5.5 mEq/L) and hypokalemia (K+ < 3.5 mEq/L) from electrocardiograms (ECGs), which are noninvasive and can be quickly measured. The retrospective cohort study was conducted at two hospitals from 2006 to 2020. The training set, validation set, internal testing cohort, and external validation cohort comprised 310,449, 15,828, 23,849, and 130,415 ECG-K+ samples, respectively. Deep learning models demonstrated high diagnostic performance in detecting hyperkalemia (AUROC 0.929, 0.912, 0.887 with sensitivity 0.926, 0.924, 0.907 and specificity 0.706, 0.676, 0.635 for 12-lead, limb-lead, lead I ECGs) and hypokalemia (AUROC 0.925, 0.896, 0.885 with sensitivity 0.912, 0.896, 0.904 and specificity 0.790, 0.734, 0.694) in the internal testing cohort. The group predicted to be positive by the hyperkalemia model showed a lower 30-day survival rate compared to the negative group (p < 0.001), supporting the clinical efficacy of the model. We also compared the importance of ECG segments (P, QRS, and T) on dyskalemia prediction of the model for interpretability. By applying these models in clinical practice, it will be possible to diagnose dyskalemia simply and quickly, thereby contributing to the improvement of patient outcomes.

Hypokalemia Induced Partial Nephrogenic Diabetes Insipidus: A Case Report.

ABSTRACT: Diabetes insipidus is a condition characterised by a large volume of diluted urine production and increased thirst. In this case report, a 49-year-old gentleman presented with 3 months of polyuria and polydipsia. He had a repeated history of hypokalemia. On the evaluation of polyuria and polydipsia, he was diagnosed with partial nephrogenic diabetes insipidus based on his inability to concentrate urine after a water deprivation test and his less than 50% response to exogenous desmopressin. On the evaluation of recurrent hypokalemia, the investigation reports met biochemical criteria for the diagnosis of Gitelman syndrome. He was encouraged to increase his fluid intake as required, and potassium chloride supplementation relieved his symptoms. This case report demonstrates the reversibility of nephrogenic diabetes insipidus with a correction of hypokalemia.

Sjögren's syndrome complicated with hypothyroidism and osteomalacia: A case report.

RATIONALE: Sjögren syndrome (SS) is a prevalent autoimmune disorder targeting exocrine glands, causing symptoms such as dry eyes and mouth. It often goes underdiagnosed due to its varied presentations, emphasizing the importance of early and accurate diagnosis. PATIENT CONCERNS: A 22-year-old female presented with atypical symptoms of hypokalemic paralysis and severe bone pain, which are not commonly associated with SS. DIAGNOSES: Extensive diagnostic workup, including serological tests, ophthalmological assessments, and a lip biopsy, confirmed the diagnosis of distal renal tubular acidosis as a complication of SS. INTERVENTIONS: The patient was treated with an intensive inpatient regimen designed to stabilize her potassium levels and alleviate her symptoms. OUTCOMES: The comprehensive therapeutic intervention was successful, with the patient's symptoms being alleviated within 2 weeks. LESSONS: This case underscores the importance of being aware of SS in younger demographics and the necessity for a prompt and multifaceted treatment approach to manage systemic effects and improve quality of life.

Adverse outcomes and mortality in individuals with eating disorder-related electrolyte abnormalities in Ontario, Canada: a population-based cohort study.

BACKGROUND: Individuals with eating disorders are at a higher risk of electrolyte abnormalities than the general population. We conducted the first representative cohort study assessing whether electrolyte abnormalities in people with eating disorders were associated with mortality and physical health outcomes. METHODS: This was a retrospective population-based cohort study in Ontario including people aged 13 years or older with an eating disorder and an outpatient electrolyte measure within 1 year (between Jan 1, 2008 and June 30, 2019). An electrolyte abnormality was any of hypokalaemia, hyperkalaemia, hyponatraemia, hypernatraemia, hypomagnesaemia, hypophosphataemia, metabolic acidosis, or metabolic alkalosis. The primary outcome was all-cause mortality. Secondary outcomes were hospitalisation, a cardiac event, infection, acute or chronic kidney disease, fracture, and bowel obstruction. In additional analyses, we examined a younger cohort (<25 years old) and individuals with no previously diagnosed secondary outcome. We involved people with related lived or family experience in the study. FINDINGS: 6163 patients with an eating disorder and an electrolyte measure within 1 year since diagnosis (mean age 26·8 years [SD 17·5]; 5456 [88·5%] female, 707 [11·5%] male; median follow-up 6·4 years [IQR 4-9]) were included. Ethnicity data were not available. The most common electrolyte abnormalities were hypokalaemia (994/1987 [50·0%]), hyponatraemia (752/1987 [37·8%]), and hypernatraemia (420/1987 [21·1%]). Overall, mortality occurred in 311/1987 (15·7%) of those with an electrolyte abnormality versus 234/4176 (5·6%) in those without (absolute risk difference 10·1%; adjusted hazard ratio 1·23 [95% CI 1·03-1·48]). Hospitalisation (1202/1987 [60·5%] vs 1979/4176 [47·4%]; 1·35 [1·25-1·46]), acute kidney injury (206/1987 [10·4%] vs 124/4176 [3%]; 1·91 [1·50-2·43]), chronic kidney disease (245/1987 [12·3%] vs 181/4176 [4·3%]; 1·44 [1·17-1·77]), bone fracture (140/1987 [7·0%] vs 167/4176 [4·0%]; 1·40 [1·10-1·78]), and bowel obstruction (72/1987 [3·6%] vs 57/4176 [1·4%]; 1·62 [1·12-2·35]) were associated with an electrolyte abnormality, but not infection or a cardiovascular event. Findings were consistent in young individuals (<25 years old) and those without secondary outcomes at baseline, by eating disorder type, and by sex. INTERPRETATION: Electrolyte abnormalities are associated with death and poor physical health outcomes, supporting the importance of monitoring and possible interventions to prevent adverse outcomes. Findings also call for a refinement of the definition of severity of eating disorder and replication of these findings in other jurisdictions. FUNDING: None.

Hypomagnesaemia leading to parathyroid dysfunction, hypocalcaemia, and hypokalaemia as a complication of long-term treatment with a proton pump inhibitor - a literature review.

Proton pump inhibitors (PPIs) are one of the most frequently used medications worldwide. The side effects of this class of drugs have been widely studied. However, their impact on the electrolyte balance is frequently forgotten. Long-term PPI administration can lead to profound electrolyte disturbances, namely hypomagnesaemia as well as, secondary to very low magnesium levels, hypocalcaemia and hypokalaemia. In this paper we comprehensively review the complexity of the mechanisms contributing to electrolyte imbalance following PPI (proton pump inhibitors) by changing the pH in the intestinal lumen, interfering with the active cellular transport of magnesium regulated by the transient receptor potential melastatin cation channels TRPM6 and TRPM7. The accompanying hypomagnesaemia causes unblocking of the renal outer medullary potassium channel (ROMK), which results in increased potassium loss in the ascending limb of the loop of Henle. Hypokalaemia caused by hypomagnesaemia is resistant to potassium supplementation because the loss of this element in urine increases with the supply of potassium. Additionally, within the calcium-sensitive receptor (CASR), dissociation of magnesium from the alpha subunit of G protein caused by hypomagnesaemia increases its activity, leading to inhibition of PTH secretion and hypocalcaemia resistant to calcium supplementation. All this means that in some patients, chronic use of proton pump inhibitors by affecting the absorption of magnesium, may lead to life-threatening electrolyte disorders.

Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.

BACKGROUND Gitelman syndrome (GS) is an uncommon autosomal recessive inherited disease caused by inactivating mutations in the SLC12A3 gene located on chromosome 16q13, resulting in distal tubular dysfunction. Most cases are detected during routine examinations in adulthood, due to hypokalemia and alkalosis. GS needs to be distinguished from diseases that cause hypokalemia, such as Classic Bartter syndrome and hyperthyroidism. In individual cases, GS and hyperthyroidism occur simultaneously, which is prone to misdiagnosis. CASE REPORT A 51-year-old woman with intermittent palpitations and lower limb fatigue for 4 years received a diagnosis of hypokalemia at a local hospital. Treatment with potassium supplementation did not improve the patient's palpitations and fatigue. After coming to our hospital for examination, it was found that the patient had hyperthyroidism. After receiving treatment of hyperthyroidism remission and sufficient potassium replacement, the patient's serum potassium level remained low. Meanwhile, the patient had hypomagnesemia and metabolic alkalosis. Subsequently, according to our suggestion, the patient continued to take oral supplements of potassium and magnesium, while also started on spironolactone. We convinced the patient to undergo genetic testing and discovered compound heterozygous mutations in the SLC12A3 gene, which presented a definitive diagnosis of GS. In the following 3 months, the patient's serum potassium level was within the normal range, and the dose of methimazole was reduced. CONCLUSIONS As a rare disease, GS may have only mild or occasional manifestations, making it prone to misdiagnosis. GS remains therapeutically challenging, and future progress in treatment will depend on further research of the disease.

Primary aldosteronism with hypokalemic rhabdomyolysis: a case report and review of the literature.

BACKGROUND: Hypokalemic rhabdomyolysis is a rare clinical manifestation of primary aldosteronism, making its diagnosis challenging, particularly when it becomes the primary presenting symptom. Herein, we present a case of primary aldosteronism with hypokalemic rhabdomyolysis and conduct a related literature review. CASE PRESENTATION: We report the case of a 54-year-old Chinese male patient who presented with intermittent weakness over the past year and was admitted with sudden limb paralysis for 2 days. The final diagnosis was primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. By reviewing the related Chinese and English literature, we noticed that only a few cases were published since 1978. After excluding irrelevant literatures, we summarized and analyzed 43 patients of with primary aldosteronism accompanied by hypokalemic rhabdomyolysis syndrome. All patients showed good recovery, with normalized blood potassium levels, and a majority achieved normalized blood pressure. Some patients still required medication for blood pressure control. CONCLUSIONS: Primary aldosteronism rarely causes rhabdomyolysis; the occurrence of severe hypokalemia and rhabdomyolysis should prompt consideration of primary aldosteronism in the differential diagnosis. Early detection and treatment are crucial for determining patient prognosis.

Beta-lactam-associated hypokalemia.

The aim of this narrative review was to discuss the literature on ß-lactam antibiotic-associated hypokalemia, a potentially life-threatening electrolyte disorder. The PubMed, Web of Science, Cochrane Library, and Scopus databases were searched for articles published between 1965 and 2023, using the following terms: 'hypokalemia' OR 'potassium loss' OR 'potassium deficiency' AND 'beta-lactams' OR 'penicillin' OR 'penicillin G' OR 'cephalosporins' OR 'ceftazidime' OR 'ceftriaxone' OR 'flucloxacillin' OR 'carbapenems' OR 'meropenem' OR 'imipenem' OR 'cefiderocol' OR 'azlocillin' OR 'ticarcillin'. Additional search terms were 'hypokalemia' AND 'epidemiology' AND 'ICU' OR 'intensive care unit' OR 'ER' OR 'emergency department' OR 'ambulatory' OR 'old' OR 'ageing population', and experimental (animal-based) studies were excluded. A total of eight studies were selected and discussed, in addition to nine case reports and case series. Both older and currently used ß-lactam antibiotics (e.g., ticarcillin and flucloxacillin, respectively) have been associated with therapy-related hypokalemia. The incidence of ß-lactam antibiotic-associated hypokalemia may be as high as 40%, thus, the issue of ß-lactam-associated hypokalemia remains clinically relevant. Although other causes of hypokalemia are likely to be diagnosed more frequently (e.g., due to diuretic therapy or diarrhea), the possibility of ß-lactam-induced renal potassium loss should always be considered in individuals with so-called 'unexplained hypokalemia'.

Tyreotoksisk periodisk paralyse.

Background: Thyrotoxic periodic paralysis is a rare and serious complication of hyperthyroidism. Case presentation: A man in his thirties of Asian descent, with non-compliant Graves' disease, presented with extremity paresis. Emergency blood tests revealed severe hypokalaemia, leading to a diagnosis of thyrotoxic periodic paralysis. The combination of uncontrolled hyperthyroidism, Asian ethnicity, paralysis, and severe hypokalaemia without other causes defined the diagnosis. Acute treatment involves non-selective beta-blockers, addressing hyperthyroidism, and potassium supplements. Interpretation: Swift recognition of thyrotoxic periodic paralysis is crucial for timely and life-saving treatment. If triggered by hyperthyroidism, as in Graves' disease, surgery or radioiodine is strongly indicated for definitive treatment. It is noteworthy that euthyroid patients cannot develop thyrotoxic periodic paralysis.

A Very Rare Side Effect of a Very Commonly Used Drug: Pantoprazole-induced Seizure.

Pantoprazole is an extensively used proton pump inhibitor (PPI) for acid peptic disease. PPI rarely cause hypomagnesemia. Hypomagnesemia is commonly associated with hypokalemia and hypocalcemia. Severe hypomagnesemia and hypocalcemia can cause seizures. Here, we report a patient on long-term pantoprazole who presented with generalized tonic-clonic seizures and had severe hypomagnesemia, hypocalcemia, hypokalemia, and secondary hyperparathyroidism. When patients on long-term PPI present with seizures, hypomagnesemia/hypocalcemia has to be excluded.

Gitelman syndrome with primary hyperparathyroidism: A case report.

BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive inherited salt-losing tubulopathy, typically devoid of hypercalcemia. Herein, we described one patient of GS presenting with hypercalcemia concomitant with primary hyperparathyroidism (PHPT). METHODS: On September 28, 2020, a middle-aged female patient was admitted to our hospital with a 12-year history of hypokalemia and hypomagnesemia. Laboratory examinations unveiled hypokalemia with renal potassium wasting, hypomagnesemia, metabolic alkalosis, hypocalciuria, and gene sequencing revealed a homozygous mutation in SLC12A3 (c.179C > T [p.T60M]). Subsequently, the diagnosis of GS was confirmed. In addition, the patient exhibited hypercalcemia and elevated levels of parathyroid hormone. Parathyroid ultrasound revealed left parathyroid hyperplasia, consistent with PHPT. Following aggressive treatment with potassium chloride and magnesium oxide, her serum potassium rose to 3.23 mmol/L, serum magnesium was 0.29 mmol/L, and her joint pain was relieved. RESULTS: Based on the patient's medical history, laboratory findings, and gene sequencing results, the definitive diagnosis was GS concomitant with PHPT. CONCLUSION: PHPT should be taken into consideration when patients diagnosed with GS exhibit hypercalcemia. While the serum potassium level readily exceeded the target threshold, correcting hypomagnesemia proved challenging, primarily because PHPT augments urinary magnesium excretion.

Optimising patient care: comprehensive evaluation of inpatient hypokalaemia.

Hypokalaemia is a common electrolyte disorder affecting hospitalised patients. It is associated with adverse outcomes including increased mortality. Inpatients with hypokalaemia need a different approach to workup and management as the aetiologies and progression of the hypokalaemia are distinct to outpatients. Potassium homeostasis is predominantly maintained by renal potassium handling. The clinical manifestations of hypokalaemia depend on the severity of hypokalaemia, however, most of the findings are non-specific. The approach to management is guided by the severity of the hypokalaemia and the underlying aetiology. Oral potassium replacement can be used in many cases of mild hypokalaemia. Intravenous replacement of potassium is necessary for many inpatients. Close monitoring is essential to ensure adequacy and to prevent adverse outcomes. An interdisciplinary approach with critical care input is needed in severe cases, and in patients where routine intravenous replacement may not be feasible (e.g., patients with heart failure). In addition to replacement, the cornerstone of management is a comprehensive review of the patient to identify the underlying cause of the hypokalaemia and the factors sustaining it. In patients in whom the cause is not apparent, or the potassium does not improve as anticipated, a referral to nephrology or endocrinology should be considered. This paper reviews the assessment of hypokalaemia in a hospital setting. It is aimed at early career doctors on the wards to help carry out a thorough evaluation. It also provides a useful framework for management.

Electrolyte disorders related emergencies in children.

This article provides a comprehensive overview of electrolyte and water homeostasis in pediatric patients, focusing on some of the common serum electrolyte abnormalities encountered in clinical practice. Understanding pathophysiology, taking a detailed history, performing comprehensive physical examinations, and ordering basic laboratory investigations are essential for the timely proper management of these conditions. We will discuss the pathophysiology, clinical manifestations, diagnostic approaches, and treatment strategies for each electrolyte disorder. This article aims to enhance the clinical approach to pediatric patients with electrolyte imbalance-related emergencies, ultimately improving patient outcomes.Trial registration This manuscript does not include a clinical trial; instead, it provides an updated review of literature.

[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].

The clinical presentation, treatment, and follow-up of two boys with type 1 Dent disease who exhibited a Bartter-like phenotype were retropectively analysed. The related literature of pediatric patients with type 1 Dent disease who had hypokalemia and metabolic alkalosis was screened through databases such as PubMed, CNKI, and Wanfang until February 1, 2024, and common features among these patients were summarized through literature review. A total of 7 literatures were included, and 9 children were included in the analysis. All patients were male, presenting with significant low molecular weight proteinuria and hypercalciuria. Other prominent characteristic phenotypes included short stature (7/8), hypophosphatemia (8/9), and rickets (6/8). Seven previously reported patients had missense or nonsense mutations, while 2 patients in this study carried possible pathogenic mutations in the CLCN5 gene, c.315+2T>A (p.?) and c.584dupT (p.I196Yfs*6), respectively. Five patients were able to maintain blood potassium levels around 3 mmol/L with oral potassium chloride solution combined with non-steroidal anti-inflammatory drugs (ibuprofen or indomethacin). The follow-up showed that 2 patients developed chronic kidney disease stage 4 and stage 3 at the age of 13 and 21 years, respectively. The phenotypic overlap between Dent disease and Batter syndrome is considerable,with the distinguishing feature being the presence of significant low molecular weight proteinuria. Patients with type 1 Dent disease presenting with the Bartter-like phenotype have a high prevalence of short stature, hypophosphatemia, and rickets. Non-steroidal anti-inflammatory drugs can be used to correct hypokalemia in patients under periodic renal function assessment.