Inheritance of an Autosomal Recessive Disorder, Gitelman's Syndrome, Across Two Generations in One Family

Department of Nephrology, National Hospital Organization Kyoto Medical Center, Japan.
Internal Medicine (Impact Factor: 0.9). 01/2011; 50(11):1211-4. DOI: 10.2169/internalmedicine.50.4354
Source: PubMed


Gitelman's syndrome (GS) is an autosomal recessive disorder; it is rarely inherited over several generations. A 16-year-old boy showed hypokalemia and hypocalciuria. Clinically, he was diagnosed as GS because of diuretic responsiveness to furosemide but not thiazide. Genetic testing disclosed he was a compound heterozygote (T180K/V677M) for the SLC12A3 gene. Unexpectedly, the patient's father also showed hypokalemia and hypocalciuria. The genetic analysis showed he had an L849H mutation in addition to T180K. The present pedigree showed an extremely rare case. Diuretic tests are useful diagnostic methods, and genetic testing is necessary for precise evaluation of complicated cases as in this family.

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    • "The prevalence of CC increases with age (10-15% for people between 65 and 75 years) and is hence called sporadic in patients older than 60 years, whereas in younger individuals there are several putative underlying disorders causing CPPD deposition disease, such as hemochromatosis, hyperparathyroidism, hypomagnesemia or hypophosphatemia[20]. The assumption that GS is caused by a defect in the NCCT cotransporter in the renal distal tubule has been proven by the identification of numerous variations in the SLC12A3 gene in patients with GS[1,4,19,21]. In the present study the specific involvement of this cotransporter in the etiology of this disorder is further substantiated by the finding that the proband is homozygous for the S615L variation. "

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    ABSTRACT: We report a case that has Gitelman syndrome (GS) and familial Mediterranean fever (FMF) presenting with recurrent arthritis of right knee and heel pain. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of heterozygous E148Q mutation in the MEFV gene. Management with potassium, magnesium supplements, spironolactone for GS, and colchicine for FMF resulted in a significant improvement in symptoms. To the best of our knowledge, this is the first report of association between GS and FMF. Further studies are needed to identify if there is an association between these two diseases and the genes responsible for these diseases.
    Full-text · Article · Sep 2012 · Renal Failure
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    ABSTRACT: Abstract Gitelman's syndrome (GS) is a rare disease with autosomal recessive trait, characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria and hyperkinemic hyperaldosteronism. While muscle weakness, tetany, stomachache, nausea and fever are very common, it could sometimes be completely asymptomatic as is the case in our patient. It is generally benign, but some severe complications like growth retardation and, though rare, paralysis and cardiac arrest could also be seen. A 57-year-old male patient sent to our hospital for further examination because of hypokalemia was diagnosed with GS as a result of clinical and laboratory assessments. Potassium and magnesium replacement was started. We are presenting our case seeing that GS is not a syndrome to be overlooked as it bears a risk of severe complications, although it might be asymptomatic until advanced ages.
    No preview · Article · Oct 2013 · Renal Failure