Gitelman Syndrome: a Сlinical and Molecular Overview
Journal Title: Нирки - Year 2015, Vol 3, Issue 13
Abstract
Gitelman syndrome (OMIM #263800) is an autosomal recessive renal tubular disorder due to loss of function mutations of SLC12A3 gene, encoding the thiazide-inhibitable, electroneutral Na+-Cl– cotransporter (NCC) of the distal convoluted tubule. Clinical consequences include chronic normotensive hypokalemic alkalosis, hypomagnesemia, hypocalciuria, polyuria/nocturia, chronic asthenia, muscular cramps, chondrocalcinosis and rarely cardiac arrhythmias. Impaired reabsorption of glomerular filtrate through NCC drives compensatory reabsorption of Na+ in more distal tubular segments (connecting and cortical collecting tubules) via both the «electrogenic» channel ENa (which also enhances tubular secretion of potassium and protons, explaining the hypokalemic alkalosis), and pendrin-dependent electroneutral NaCl reabsorption. Thus volume depletion is seldom severe in these patients. There exists wide variability and severity of clinical symptoms between subjects, ranging from an almost asymptomatic disease to a severely disabling one. More than 400 SLC12A3 mutations have been so far described, evenly distributed along the protein sequence and without any hot spot. Mutation detection rate by gene sequencing actually is about 80 %. There are no genotype-phenotype correlations. Commonly considered a benign condition, Gitelman syndrome may be associated with reduced quality of life, increased medicalization and high hospitalization rate.
Authors and Affiliations
Maria Luisa QUERQUES, Federica Ravera, Alberto MENEGOTTO, Giacomo COLUSSI
Keywords
Related Articles
- EP ID EP215051
- DOI -
- Views 78
- Downloads 0
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney dis...
2017 World Kidney Day in Ukraine
.
Acetate-free Biofiltration for the Prevention of Intradialytic Hypеrcapnia in a Patient with Limited Pulmonary Reserve
A case of acute hypercapnia occurring during a session of bicarbonate hemodialysis is reported. The 82-year old female patient was affected by cardiac insufficiency, pulmonary hypertension and chronic obstructive lung d...
The Results of the Study of Microbiologic Pattern of the Urinary Tract Infection in Children from Kyiv and Kyiv Region
The article presents the results of a retrospective analysis of the species composition of microbial pathogens of the urinary tract infection according to the results of urine culture and their sensitivity to antibiotics...
Connective tissue dysplasia as a trigger of pyelonephritis severity in children
Background. In recent decades, more and more attention of practitioners is attracted to the role of pathology of various organs and systems of the human body associated with connective tissue dysplasia, which leads to ch...