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1.
Curr Opin Nephrol Hypertens ; 31(5): 508-515, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35894287

RESUMO

PURPOSE OF REVIEW: Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-transporter (NCC). Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic screening. This review aims to provide a comprehensive overview of the clinical, genetic and mechanistic aspects of Gitelman(-like) syndromes. RECENT FINDINGS: Disturbed Na+ reabsorption in the distal convoluted tubule (DCT) is associated with hypomagnesemia and hypokalemic alkalosis. In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity. Furthermore, genetic investigations of patients with Na+-wasting tubulopathy have resulted in the identification of pathogenic variants in MT-TI, MT-TF, KCNJ16 and ATP1A1. These novel findings highlight the importance of cell metabolism and basolateral membrane potential for Na+ reabsorption in the DCT. SUMMARY: Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Genetic testing of patients with hypomagnesemia and hypokalemia should cover a panel of genes involved in Gitelman-like syndromes, including the mitochondrial genome.


Assuntos
Alcalose , Síndrome de Bartter , Síndrome de Gitelman , Hipopotassemia , Alcalose/complicações , Alcalose/genética , Síndrome de Bartter/genética , Síndrome de Gitelman/complicações , Síndrome de Gitelman/genética , Humanos , Hipopotassemia/genética , Magnésio/metabolismo , Sódio/metabolismo , Membro 3 da Família 12 de Carreador de Soluto/genética
2.
Am J Case Rep ; 23: e936715, 2022 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-35787602

RESUMO

BACKGROUND Congenital chloride diarrhea (CCD) is an autosomal recessive disease that is usually diagnosed in early childhood. Mutations in the SLC26A3 gene have been attributed to the primary etiology of disease development. Patients with CCD usually present with electrolyte disturbances, metabolic alkalosis, and chronic diarrhea. Early diagnosis is essential to prevent long-term complications that often require genetic testing. Bartter syndrome is another congenital disorder that has clinical features similar to CCD, which might cause a delay in diagnosis in a few patients. CASE REPORT We describe the case of a 28-year-old man who was misdiagnosed as having Bartter syndrome when he was 5 months old based on the clinical features of hypokalemia, metabolic alkalosis, and a family history of Bartter syndrome. He had multiple admissions with diarrhea and was diagnosed with ulcerative colitis. Unfortunately, the course was complicated by renal failure, and the patient underwent a kidney transplant. Persistent metabolic alkalosis with diarrhea after transplantation was unusual in Bartter syndrome. Therefore, his primary diagnosis was challenged and suspicion of CCD was raised, which was confirmed by genetic testing. CONCLUSIONS CCD is a rare congenital disorder that requires high clinical suspicion and often a genetic test to confirm diagnosis. Here, we report a patient who was misdiagnosed as having Bartter syndrome until early adulthood owing to several misleading factors. We hope by reporting this case it will raise awareness about CCD in high-prevalence areas and the importance of early diagnosis to prevent serious complications.


Assuntos
Alcalose , Síndrome de Bartter , Colite Ulcerativa , Adulto , Alcalose/complicações , Alcalose/etiologia , Síndrome de Bartter/complicações , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Pré-Escolar , Colite Ulcerativa/complicações , Colite Ulcerativa/diagnóstico , Erros de Diagnóstico , Diarreia/congênito , Diarreia/diagnóstico , Humanos , Lactente , Masculino , Erros Inatos do Metabolismo
3.
Andes Pediatr ; 93(1): 110-116, 2022 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-35856954

RESUMO

In the pediatric emergency department, dehydrated children are one of the most frequent causes for consultation, however, the coexistence of hyponatremia with hypochloremia and metabolic alkalosis is rare. The presence of metabolic alkalosis due to chloride depletion has been reported as a form of presentation of Cystic Fibrosis (CF). OBJECTIVE: to describe a case of cystic fibrosis of unusual presen tation in a pediatric patient. CLINICAL CASE: we report a 3-month-old previously healthy male infant who presented with internal environment abnormalities consisting of metabolic alkalosis, hypona tremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viral- bacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cys tic fibrosis (CF) was suspected, thus the diagnosis was corroborated by sweat test and genetic study which showed the pathogenic variants c.2834C>T (p.Ser945Leu) and c.3484C>T (p.Arg1162X), both heterozygous. CONCLUSION: special attention should be paid to the existence of hypochloremia with metabolic alkalosis and hyponatremia associated or not with pulmonary disease, suspecting CF as the first option. This consideration becomes more relevant in those countries where the neonatal screening test is not widely available.


Assuntos
Alcalose , Fibrose Cística , Hiponatremia , Choque Séptico , Desequilíbrio Hidroeletrolítico , Alcalose/complicações , Criança , Cloretos , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Humanos , Hiponatremia/diagnóstico , Hiponatremia/etiologia , Lactente , Recém-Nascido , Masculino , Choque Séptico/complicações , Choque Séptico/diagnóstico , Desequilíbrio Hidroeletrolítico/complicações
4.
Iran J Kidney Dis ; 16(3): 162-170, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35714210

RESUMO

INTRODUCTION: Bartter syndrome (BS) is a salt losing tubulopathy due to impairment of the transport mechanisms at the thick ascending limb of the Henle's loop. The aim of this study was to report the clinical course of patients with BS. METHODS: Patients with BS were followed from 1996 to 2020 and enrolled to a systematic protocol to confirm primary BS by evaluating the metabolic derangements, nephrolithiasis and nephrocalcinosis. Treatment was based on standard guidelines. Comparisons were made between data at baseline and at the last visit. RESULTS: A total of 13 patients (7 males) with primary BS were analyzed. Two patients had a mutation of the KCNJ1 gene. Age at diagnosis was 3 ± 4.5 years and the follow-up period was 11.19 ± 6.76 years. Metabolic alkalosis was initially detected in 76.92% and remained stable at the last visit (P > .05). Hypokalemia was present in 61.5% of patients at diagnosis, but sustained in 38.46% at the last visit (P < .05). Urine calcium level was 13.3 ± 9.6 mg/ kg/d at the first visit, and significantly reduced to 3.7 ± 2.0 mg/ kg/d at the last visit (P < .05). Nephrocalcinosis was detected by first kidney ultrasonography in 53.8% of patients. Kidney function was preserved, with a glomerular filtration rate of 120.1 ± 28.7 mL/min/ 1.73m2 at last visit. Growth was completely recovered in 71.42% and partially improved in 14.28% of patients after treatment, respectively. All patients received indomethacin and potassium chloride salts. CONCLUSIONS: Long-term follow-up of this cohort of BS showed favorable outcomes after treatment resulting in metabolic normalization and growth catch-up in most patients.  DOI: 10.52547/ijkd.6657.


Assuntos
Alcalose , Síndrome de Bartter , Hipopotassemia , Nefrocalcinose , Síndrome de Bartter/complicações , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/terapia , Humanos , Masculino , Nefrocalcinose/diagnóstico , Nefrocalcinose/terapia , Potássio
5.
Am J Physiol Renal Physiol ; 323(2): F141-F155, 2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35635321

RESUMO

Na+/H+ exchanger isoform 3 (NHE3) facilitates Na+ reabsorption and H+ secretion by the kidneys. Despite stronger NHE3 abundance in the thick ascending limb (TAL) compared with the S1 and S2 segments of the proximal tubule, the role of NHE3 in the TAL is poorly understood. To investigate the role of NHE3 in the TAL, we generated and phenotyped TAL-specific NHE3 knockout (NHE3TAL-KO) mice. Compared with control mice, NHE3TAL-KO mice did not show significant differences in body weight, blood pH, or plasma Na+, K+, or Cl- levels. Fluid intake trended to be higher and urine osmolality was significantly lower in NHE3TAL-KO mice. Despite a similar glomerular filtration rate, NHE3TAL-KO mice had a greater urinary K+-to-creatinine ratio. One proposed role of NHE3 relates to furosemide-induced urinary acidification. Acute bolus treatment with furosemide under anesthesia did not result in differences in the dose dependence of urinary flow rate, Cl- excretion, or maximal urinary acidification between genotypes; however, in contrast with control mice, urinary pH returned immediately toward baseline levels in NHE3TAL-KO mice. Chronic furosemide treatment reduced urine osmolality similarly in both genotypes but metabolic alkalosis, hypokalemia, and calciuresis were absent in NHE3TAL-KO mice. Compared with vehicle, chronic furosemide treatment resulted in greater Na+-K+-2Cl- abundance regardless of genotype. Na+-phosphate cotransporter 2a abundance was also greater in furosemide-treated control mice compared with vehicle treatment, an effect that was absent in NHE3TAL-KO mice. In summary, NHE3 in the TAL plays a role in the sustained acidification effect of furosemide. Consistent with this, long-term treatment with furosemide did not result in metabolic alkalosis in NHE3TAL-KO mice.NEW & NOTEWORTHY Na+/H+ exchanger isoform 3 (NHE3) is very abundant in the thick ascending limb (TAL) compared with the proximal tubule. Much has been learned about the role of NHE3 in the proximal tubule; however, the function of NHE3 in the TAL remains elusive. A novel mouse model that lacks NHE3 selectively in the TAL not only shows a phenotype under baseline conditions but also identifies that NHE3 is required for sustained but not acute furosemide-induced urinary acidification.


Assuntos
Alcalose , Furosemida , Animais , Furosemida/farmacologia , Concentração de Íons de Hidrogênio , Camundongos , Sódio/metabolismo , Trocador 3 de Sódio-Hidrogênio/genética , Trocadores de Sódio-Hidrogênio/genética , Trocadores de Sódio-Hidrogênio/metabolismo
6.
Andes Pediatr ; 93(1): 110-116, 2022 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-35506784

RESUMO

In the pediatric emergency department, dehydrated children are one of the most frequent causes for consultation, however, the coexistence of hyponatremia with hypochloremia and metabolic alkalosis is rare. The presence of metabolic alkalosis due to chloride depletion has been reported as a form of presentation of Cystic Fibrosis (CF). OBJECTIVE: to describe a case of cystic fibrosis of unusual presen tation in a pediatric patient. CLINICAL CASE: we report a 3-month-old previously healthy male infant who presented with internal environment abnormalities consisting of metabolic alkalosis, hypona tremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viral- bacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cys tic fibrosis (CF) was suspected, thus the diagnosis was corroborated by sweat test and genetic study which showed the pathogenic variants c.2834C>T (p.Ser945Leu) and c.3484C>T (p.Arg1162X), both heterozygous. CONCLUSION: special attention should be paid to the existence of hypochloremia with metabolic alkalosis and hyponatremia associated or not with pulmonary disease, suspecting CF as the first option. This consideration becomes more relevant in those countries where the neonatal screening test is not widely available.


Assuntos
Alcalose , Fibrose Cística , Hiponatremia , Choque Séptico , Desequilíbrio Hidroeletrolítico , Alcalose/complicações , Criança , Cloretos , Fibrose Cística/complicações , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Humanos , Hiponatremia/diagnóstico , Hiponatremia/etiologia , Lactente , Recém-Nascido , Masculino , Choque Séptico/complicações , Choque Séptico/diagnóstico , Desequilíbrio Hidroeletrolítico/complicações
7.
BMC Nephrol ; 23(1): 182, 2022 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-35549682

RESUMO

BACKGROUND: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. CASE PRESENTATION: We present a family with Dent-2 disease and a Bartter-like phenotype. The main clinical problems observed in the proband included a) primary phosphaturia leading to osteomalacia and stunted growth; b) elevated serum calcitriol levels, leading to hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis; c) severe salt wasting causing hypotension, hyperaldosteronism, hypokalemia and metabolic alkalosis; d) partial nephrogenic diabetes insipidus attributed to hypercalcemia, hypokalemia and nephrocalcinosis; e) albuminuria, LMWP. Phosphorous repletion resulted in abrupt cessation of hypercalciuria and significant improvement of hypophosphatemia, physical stamina and bone histology. Years later, he presented progressive CKD with nephrotic range proteinuria attributed to focal segmental glomerulosclerosis (FSGS). Targeted genetic analysis for several phosphaturic diseases was unsuccessful. Whole Exome Sequencing (WES) revealed a c.1893C > A variant (Asp631Glu) in the OCRL gene which was co-segregated with the disease in male family members. CONCLUSIONS: We present the clinical characteristics of the Asp631Glu mutation in the OCRL gene, presenting as Dent-2 disease with Bartter-like features. Phosphorous repletion resulted in significant improvement of all clinical features except for progressive CKD. Angiotensin blockade improved proteinuria and stabilized kidney function for several years.


Assuntos
Alcalose , Doença de Dent , Hipercalcemia , Hipopotassemia , Cálculos Renais , Nefrocalcinose , Insuficiência Renal Crônica , Canais de Cloreto/genética , Doença de Dent/complicações , Doença de Dent/diagnóstico , Doença de Dent/genética , Feminino , Humanos , Hipercalcemia/genética , Hipercalciúria/complicações , Hipercalciúria/genética , Hipopotassemia/complicações , Hipopotassemia/genética , Masculino , Mutação/genética , Nefrocalcinose/complicações , Nefrocalcinose/genética , Fenótipo , Monoéster Fosfórico Hidrolases/genética , Proteinúria/etiologia , Insuficiência Renal Crônica/complicações
8.
BMC Nephrol ; 23(1): 170, 2022 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-35509038

RESUMO

BACKGROUND: Gitelman Syndrome (GS) is a hereditary tubulopathy associated with a biallelic inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT). The typical clinical manifestation is a hypokalemic metabolic alkalosis with significant hypomagnesemia, and low urinary calcium excretion. Hypocalciuria is widely believed to be a hallmark of GS that distinguishes it from Barter's syndrome, presenting as hypercalciuria. The pathomechanism of hypocalciuria in GS is not fully elucidated. Up to date, a clinical course of GS with normocalciuria has been reported only in men, while women have a milder course of the disease with typical hypocalciuria, which is believed as the result of sex hormone. Additionally, there is a growing evidence that calcium channels of the distal nephron could be regulated by a variety of hormones, including aldosterone (Aldo). CASE PRESENTATION: We present the case of a 28-year-old Caucasian woman with asymptomatic, chronic hypokalemia, hypomagnesemia, hypochloremic alkalosis and normal urinary calcium excretion. A high renin levels with normal concentration of Aldo in serum have also been found. The values of blood pressure were low. Based on genetic studies, two heterozygous mutations in the trans position were confirmed: c.2186G>T (p.Gly729Val) and c.1247G>C (p.Cys416Ser) in the SLC12A3 gene, which ultimately confirmed the diagnosis of GS. CONCLUSIONS: We report here the first case of genetically confirmed GS manifested as normocalciuria in a Caucasian woman. Thus, our result does not confirm a role of sex hormones on the level of calciuria. Based on the results of normal Aldo concentration despite high renin level in our patient, we hypothesized that Aldo may be connecting with the level of urinary calcium excretion in patients with the GS.


Assuntos
Alcalose , Síndrome de Gitelman , Adulto , Alcalose/genética , Cálcio/metabolismo , Feminino , Síndrome de Gitelman/complicações , Síndrome de Gitelman/diagnóstico , Síndrome de Gitelman/genética , Humanos , Magnésio , Masculino , Mutação/genética , Renina/genética , Membro 3 da Família 12 de Carreador de Soluto/genética
9.
Clin Chim Acta ; 531: 120-125, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35358470

RESUMO

BACKGROUND: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Bartter syndrome type 1 is caused by SLC12A1 mutations. METHODS: The patients were from two unrelated non-consanguineous Chinese families. Both patients presented with intrauterine growth retardation, premature delivery, failure to thrive, polyuria and metabolic alkalosis. Whole-exome sequencing was used to identify the causative gene. RESULTS: Exome sequencing identified three novel SLC12A1 mutations in our patients. And we found the two patients had significantly different outcomes when they were two years of age. Moreover, we identified four novel variants of SLC12A1 that were likely to be pathogenic, from our in-house database. A review of the whole-exome sequencing data of patient 1 lead to her brother being genetically diagnosed with pulmonary alveolar microlithiasis, which was caused by compound heterozygous SLC34A2 variations. CONCLUSION: We reported two children from one family who were affected by different rare conditions. This study expanded the mutation spectra of the SLC12A1 and SLC34A2 genes. We showed the important role of early genetic testing for disease diagnosis and emphasized the importance of standardized treatment and management.


Assuntos
Alcalose , Síndrome de Bartter , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Criança , Feminino , Humanos , Masculino , Mutação , Prognóstico , Membro 1 da Família 12 de Carreador de Soluto/genética
12.
Hypertension ; 79(4): 706-716, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35109661

RESUMO

Intercalated cells make up about a third of all cells within the connecting tubule and the collecting duct and are subclassified as type A, type B and non-A, non-B based on the subcellular distribution of the H+-ATPase, which dictates whether it secretes H+ or HCO3-. Type B intercalated cells mediate Cl- absorption and HCO3- secretion, which occurs largely through the anion exchanger pendrin. Pendrin is stimulated by angiotensin II via the angiotensin type 1a receptor and by aldosterone through MR (mineralocorticoid receptor). Aldosterone stimulates pendrin expression and function, in part, through the alkalosis it generates. Pendrin-mediated HCO3- secretion increases in models of metabolic alkalosis, which attenuates the alkalosis. However, pendrin-positive intercalated cells also regulate blood pressure, at least partly, through pendrin-mediated Cl- absorption and through their indirect effect on the epithelial Na+ channel, ENaC. This aldosterone-induced increase in pendrin secondarily stimulates ENaC, thereby contributing to the aldosterone pressor response. This review describes the contribution of pendrin-positive intercalated cells to Na+, K+, Cl- and acid-base balance.


Assuntos
Aldosterona , Alcalose , Aldosterona/metabolismo , Proteínas de Transporte de Ânions , Pressão Sanguínea/fisiologia , Canais Epiteliais de Sódio/metabolismo , Humanos , Sódio/metabolismo , Transportadores de Sulfato/metabolismo
15.
Proc Natl Acad Sci U S A ; 119(8)2022 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-35173044

RESUMO

The lungs and kidneys are pivotal organs in the regulation of body acid-base homeostasis. In cystic fibrosis (CF), the impaired renal ability to excrete an excess amount of HCO3 - into the urine leads to metabolic alkalosis [P. Berg et al., J. Am. Soc. Nephrol. 31, 1711-1727 (2020); F. Al-Ghimlas, M. E. Faughnan, E. Tullis, Open Respir. Med. J. 6, 59-62 (2012)]. This is caused by defective HCO3 - secretion in the ß-intercalated cells of the collecting duct that requires both the cystic fibrosis transmembrane conductance regulator (CFTR) and pendrin for normal function [P. Berg et al., J. Am. Soc. Nephrol. 31, 1711-1727 (2020)]. We studied the ventilatory consequences of acute oral base loading in normal, pendrin knockout (KO), and CFTR KO mice. In wild-type mice, oral base loading induced a dose-dependent metabolic alkalosis, fast urinary removal of base, and a moderate base load did not perturb ventilation. In contrast, CFTR and pendrin KO mice, which are unable to rapidly excrete excess base into the urine, developed a marked and transient depression of ventilation when subjected to the same base load. Therefore, swift renal base elimination in response to an acute oral base load is a necessary physiological function to avoid ventilatory depression. The transient urinary alkalization in the postprandial state is suggested to have evolved for proactive avoidance of hypoventilation. In CF, metabolic alkalosis may contribute to the commonly reduced lung function via a suppression of ventilatory drive.


Assuntos
Alcalose/fisiopatologia , Fibrose Cística/fisiopatologia , Hipoventilação/fisiopatologia , Equilíbrio Ácido-Base/fisiologia , Alcalose/metabolismo , Animais , Bicarbonatos/metabolismo , Antiportadores de Cloreto-Bicarbonato , Fibrose Cística/complicações , Fibrose Cística/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/metabolismo , Regulador de Condutância Transmembrana em Fibrose Cística/fisiologia , Modelos Animais de Doenças , Feminino , Hipoventilação/etiologia , Hipoventilação/metabolismo , Transporte de Íons , Rim/metabolismo , Rim/patologia , Pulmão/metabolismo , Pulmão/patologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Eliminação Renal , Reabsorção Renal/fisiologia
16.
Pediatr Nephrol ; 37(8): 1889-1895, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35039929

RESUMO

BACKGROUND: Acid-base balance is maintained by kidney excretion of titratable acids and bicarbonate reabsorption. Metabolic alkalosis is uncommon in dialysis-treated patients. The aim of this retrospective study was to assess the rate of metabolic alkalosis in pediatric patients treated with peritoneal dialysis. METHODS: Medical records of children treated with peritoneal dialysis in Shaare Zedek Medical Center from January 2000 to June 2021 were reviewed and compared with young adults currently treated with peritoneal dialysis. Demographic, clinical, and peritoneal dialysis characteristics were extracted from the medical records. RESULTS: Thirty chronic peritoneal dialysis patients were included in our study, seven under 2 years, 13 between 2 and 18 years, and 10 adults. 90.3% of the measurements in infants showed metabolic alkalosis compared to 32.3% in the 2-18-year group and none in the adult group. Higher size-adjusted daily exchange volume, lack of urine output, and high lactate-containing dialysate were associated with metabolic alkalosis. Alkalosis was not explained by vomiting, diuretic therapy, or carbonate-containing medications. High transport membrane, low dietary protein, and malnutrition, all previously reported explanations for metabolic alkalosis, were not found in our study. CONCLUSIONS: Metabolic alkalosis is common in infants treated with peritoneal dialysis as opposed to older children and adults. High lactate-containing dialysate is a possible explanation. Higher size-adjusted daily dialysate exchange volume, which may reflect higher bicarbonate absorption, is another independent predictor of alkalosis. Acid-base status should be closely followed in infants, and using a dialysis solution with lower bicarbonate or lactate level should be considered. A higher resolution version of the graphical abstract is available as Supplementary Information.


Assuntos
Alcalose , Diálise Peritoneal , Adolescente , Alcalose/etiologia , Bicarbonatos , Criança , Soluções para Diálise , Humanos , Lactente , Ácido Láctico , Diálise Peritoneal/efeitos adversos , Diálise Renal , Estudos Retrospectivos
17.
Ann Hepatol ; 27(2): 100675, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35074477

RESUMO

In addition to the kidneys and lungs, the liver also plays an important role in the regulation of the Acid-Base Equilibrium (ABE). The involvement of the liver in the regulation of ABE is crucial because of its role in lactic acid metabolism, urea production and in protein homeostasis. The main acid-base imbalance that occurs in patients with liver cirrhosis is Respiratory Alkalosis (RAlk). Due to the fact that in these patients additional pathophysiological mechanisms that affect the ABE are present, other disorders may appear which compensate or enhance the primary disorder. Conventional ABE reading models fail to identify and assess the underlying disorders in patients with liver cirrhosis. This weakness of the classical models led to the creation of new physicochemical mathematical models that take into account all the known parameters that develop and affect the ABE. In addition to the RAlk, in patients with liver cirrhosis, metabolic alkalosis (due to hypoalbuminemia), hyponatremic metabolic acidosis, hyperchloremic metabolic acidosis, lactic acidosis and metabolic alkalosis due to urea metabolism are some of the pathophysiological mechanisms that affect the ABE.


Assuntos
Acidose , Alcalose , Hepatopatias , Acidose/etiologia , Acidose/metabolismo , Alcalose/complicações , Alcalose/metabolismo , Humanos , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Hepatopatias/metabolismo , Ureia
18.
J Clin Endocrinol Metab ; 107(4): e1679-e1688, 2022 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-34751387

RESUMO

CONTEXT: Bartter syndrome (BS) is a group of rare autosomal-recessive tubulopathies characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Type 2 BS results from a defect in the renal outer medullary potassium channel encoded by the KCNJ1 gene. Type 2 BS presents with polyhydramnios, intrauterine growth retardation, prematurity, failure to thrive, polyuria, hypercalciuria, and life-threatening episodes of dehydration. Hypocalcemia is a very rare presenting symptom of BS, with only a few published cases reporting it as the initial manifestation of type 2 BS. OBJECTIVE: To describe a child who presented with hypocalcemic seizure at the age of 2.3 years that was first related to vitamin D deficiency and high-phosphate soft drink consumption. METHODS: Whole exome sequencing (WES) was used to evaluate the biochemical abnormalities of the proband. RESULTS: We identified a previously described homozygous missense mutation c.212C>T, p.T71M in the KCNJ1 gene associated with type 2 BS. Six additional family members with the same mutation and diagnosed clinically with BS are also reported, 2 presenting with hypocalcemia associated with vitamin D deficiency. CONCLUSION: This report expands the clinical spectrum associated with KCNJ1 mutations and emphasizes the role of WES in unsolved cases of hypocalcemia when genetic disease is suspected. It also highlights the hazardous effects of phosphate-containing soft drinks on calcium metabolism.


Assuntos
Alcalose , Síndrome de Bartter , Hipocalcemia , Deficiência de Vitamina D , Alcalose/complicações , Síndrome de Bartter/complicações , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Criança , Pré-Escolar , Feminino , Humanos , Hipercalciúria/diagnóstico , Hipercalciúria/genética , Hipocalcemia/etiologia , Hipocalcemia/genética , Masculino , Fosfatos , Gravidez , Deficiência de Vitamina D/complicações
19.
Hemodial Int ; 26(2): E16-E18, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34907640

RESUMO

Severe metabolic alkalosis is rarely seen in end stage renal disease (ESRD) patients on long-term hemodialysis. This can be life threatening and mortality is exponentially increased when the pH exceeds 7.60. Persistent vomiting, ingestion of alkali for dyspepsia and pica behavior are all potential causes of such severe metabolic alkalosis. The prevalence of pica is increased in chronic kidney disease and ESRD patients, with ice being the most commonly ingested substance. It can cause a myriad of complications including death, but the diagnosis may be elusive unless the pica behavior is witnessed firsthand by others since patients do not typically disclose their behavior. We present the case of a hemodialysis patient with severe alkalemia, hypernatremia, and excessive interdialytic weight gains resulting in recurrent hospitalizations for fluid overload due to baking soda pica behavior.


Assuntos
Alcalose , Falência Renal Crônica , Alcalose/induzido quimicamente , Alcalose/complicações , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Pica/complicações , Diálise Renal/efeitos adversos , Bicarbonato de Sódio
20.
J Diabetes Investig ; 13(5): 923-926, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34931465

RESUMO

A 34-year-old man visited our Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, because of dry mouth and weight loss. His plasma glucose level was 32.8 mmol/L and serum levels of ketone bodies were increased, but with metabolic alkalemia. He was also suffering from renal tubular hypomagnesemia and hypokalemia. Abdominal computed tomography showed bilateral renal cysts. These findings were suggestive of maturity-onset diabetes of the young type 5. Genetic testing showed heterozygous hepatocyte nuclear factor 1 beta gene deletion. In the present case, it seemed reasonable to view hepatocyte nuclear factor 1 beta gene deletion as the common cause of maturity-onset diabetes of the young type 5-associated diabetic ketoacidosis and tubular malfunction-induced hypokalemic alkalosis. This case exemplifies the importance of hepatocyte nuclear factor 1 beta gene abnormality as a potential cause of diabetic ketoacidosis with alkalemia.


Assuntos
Alcalose , Diabetes Mellitus Tipo 2 , Cetoacidose Diabética , Adulto , Diabetes Mellitus Tipo 2/genética , Cetoacidose Diabética/complicações , Cetoacidose Diabética/diagnóstico , Fator 1-beta Nuclear de Hepatócito/genética , Humanos , Masculino
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