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

Immunobiological drugs in the treatment of rheumatic diseases

Rheumatic diseases (RD) are among the most common chronic diseases of the musculoskeletal system and connective tissue which are found in both adults and children. The cause of these pathological conditions can be change...

The current strategy was the use of neuroprotective protein diet purposes.

This article provides an overview of the scientific evidences on the use of low-protein diet by patients with chronic kidney disease. Their analysis show that low-protein diet refers to the recommendations of a high lave...

Guideline Summary KDOQI clinical practice guideline for hemodialysis adequacy: 2015 update

Guideline Summary "KDOQI clinical practice guideline for hemodialysis adequacy", 2015 update

Correction of Potentially Modified Risk Factors in Hemodialysis Treatment: Standards of Therapy and Individualized Programs of Dialysis

Limitations of possible correction for potentially modified factor the risk of death of patients, who are on renal replacement therapy, by techniques of hemodialysis were studied. The conclusions about the possibility of...

Comparative efficacy of different approaches to metaphylaxis of recurrent urinary tract infections

An open-label comparative prospective study of the clinical and laboratory efficacy and safety of Espa-Focin (fosfomycin trometamol) and Cysto-Aurin (goldenrod preparation) manufactured by Еsparma GmbH was performed in 1...

Download PDF file
  • EP ID EP215051
  • DOI -
  • Views 109
  • Downloads 0

How To Cite

Maria Luisa QUERQUES, Federica Ravera, Alberto MENEGOTTO, Giacomo COLUSSI (2015). Gitelman Syndrome: a Сlinical and Molecular Overview. Нирки, 3(13), 9-20. https://europub.co.uk/articles/-A-215051