Gitelman syndrome

Gitelman syndrome
OMIM	263800
DiseasesDB	31860

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Overview

Gitelman syndrome is a rare inherited defect in the renal tubule of kidneys. It causes the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than allowing it to be resorbed into the bloodstream.

Causes

Gitelman's syndrome is linked to inactivating mutations in the SLC12A3 gene resulting in a loss of function of the encoded thiazide-sensitive sodium-chloride co-transporter (NCCT). This cell membrane protein participates in the control of ion homeostasis at the distal convoluted tubule portion of the nephron.

Gitelman's syndrome is an autosomal-recessive disorder: one defective gene has to be inherited from each parent.

Presentation

People suffering from Gitelman's syndrome present symptoms which are identical to those of patients who are on thiazide diuretics

Clinical symptoms for this disease are hypochloremic metabolic alkalosis, hypokalemia, and hypocalciuria. Hypomagnesemia is present in many but not all cases. In contrast to patients with Liddle syndrome, those suffering from Gitelman's syndrome are generally normotensive. Carriers of Gitelman's syndrome-linked mutations are often asymptomatic while some complain of mild muscular cramps or weakness expressed as fatigue or irritability. More severe symptoms such as tetany and paralysis have however also been reported. Phenotypic variations observed among patients probably result from differences in their genetic background and may depend on which particular amino acid in the NCCT protein has been mutated.

See Naesens et al. for a recent review.

Eponym

It is named for Hillel Gitelman.

External links

• The Bartter Site

Cost Effectiveness of Gitelman syndrome

| group5 = Clinical Trials Involving Gitelman syndrome | list5 = Ongoing Trials on Gitelman syndrome at Clinical Trials.gov • Trial results on Gitelman syndrome • Clinical Trials on Gitelman syndrome at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Gitelman syndrome | list6 = US National Guidelines Clearinghouse on Gitelman syndrome • NICE Guidance on Gitelman syndrome • NHS PRODIGY Guidance • FDA on Gitelman syndrome • CDC on Gitelman syndrome

| group7 = Textbook Information on Gitelman syndrome | list7 = Books and Textbook Information on Gitelman syndrome

| group8 = Pharmacology Resources on Gitelman syndrome | list8 = AND (Dose)}} Dosing of Gitelman syndrome • AND (drug interactions)}} Drug interactions with Gitelman syndrome • AND (side effects)}} Side effects of Gitelman syndrome • AND (Allergy)}} Allergic reactions to Gitelman syndrome • AND (overdose)}} Overdose information on Gitelman syndrome • AND (carcinogenicity)}} Carcinogenicity information on Gitelman syndrome • AND (pregnancy)}} Gitelman syndrome in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Gitelman syndrome •

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Gitelman syndrome | list9 = AND (pharmacogenomics)}} Genetics of Gitelman syndrome • AND (pharmacogenomics)}} Pharmacogenomics of Gitelman syndrome • AND (proteomics)}} Proteomics of Gitelman syndrome

| group10 = Newstories on Gitelman syndrome | list10 = Gitelman syndrome in the news • Be alerted to news on Gitelman syndrome • News trends on Gitelman syndrome</small>

| group11 = Commentary on Gitelman syndrome | list11 = Blogs on Gitelman syndrome

| group12 = Patient Resources on Gitelman syndrome | list12 = Patient resources on Gitelman syndrome • Discussion groups on Gitelman syndrome • Patient Handouts on Gitelman syndrome • Directions to Hospitals Treating Gitelman syndrome • Risk calculators and risk factors for Gitelman syndrome

| group13 = Healthcare Provider Resources on Gitelman syndrome | list13 = Symptoms of Gitelman syndrome • Causes & Risk Factors for Gitelman syndrome • Diagnostic studies for Gitelman syndrome • Treatment of Gitelman syndrome

| group14 = Continuing Medical Education (CME) Programs on Gitelman syndrome | list14 = CME Programs on Gitelman syndrome

| group15 = International Resources on Gitelman syndrome | list15 = Gitelman syndrome en Espanol • Gitelman syndrome en Francais

| group16 = Business Resources on Gitelman syndrome | list16 = Gitelman syndrome in the Marketplace • Patents on Gitelman syndrome

| group17 = Informatics Resources on Gitelman syndrome | list17 = List of terms related to Gitelman syndrome

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