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Gitelman syndrome
variant of Bartter's syndrome with hypomagnesemia & hypocalciuria
Genetics:
- autosomal recessive
- mutation in the thiazide-sensitive Na+Cl- cotransporter of the distal tubule (SLC12A3)
Clinical manifestations:
- patients generally present in late adolescence or early adulthood [4]
- patients are often asymptomatic
- symptoms include fatigue, salt craving, thirst
- transient periods of cramping, muscular weakness & tetany, usually accompanied by abdominal pain, vomiting & fever
- normal blood pressure or hypotension
- phenotype is highly heterogeneous in terms of age at onset & severity
- laboratory features might also change during life
- overlapping features with Bartter syndrome
Laboratory:
- arterial blood gas, serum K+: hypokalemic metabolic alkalosis
- serum magnesium: hypomagnesemia
- serum Ca+2 may be high normal
- urine Ca+2: hypocalciuria
- urine chloride > 20 meq/L [4]
- urine potassium inappropriately high
- plasma renin activity increased
- plasma aldosterone: secondary hyperaldosteronism
- SLC12A3 gene mutation
Differential diagnosis:
- Bartter syndrome
- elevated urine calcium
- Gordon syndrome
- hypertension, hyperkalemia, metabolic acidosis
- Liddle syndrome
- severe hypertension, hypokalemia, metabolic alkalosis
Interactions
disease interactions
Related
Bartter syndrome
hyperaldosteronism
solute carrier family 12 member 3; thiazide-sensitive Na+Cl- cotransporter; Na+Cl- symporter (SLC12A3, TSC)
General
genetic disease of the kidney
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
MORBIDMAP 600968
References
- OMIM :accession 263800
- UniProt :accession P55017
- Nakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D.
Gitelman's syndrome: a pathophysiological and clinical update.
Endocrine. 2012 Feb;41(1):53-7. Review.
PMID: 22169961
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