Gitelman syndrome
| Gitelman syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | N25.8 + E87.6 + E83.4 |
| OMIM | 263800 |
| DiseasesDB | 31860 |
| eMedicine | article/238670 |
| MeSH | D053579 |
| Orphanet | 358 |
Gitelman syndrome is an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. The disorder is caused by loss of function mutations of the thiazide-sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule of the kidney.
Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the NKCC2 found in the thick ascending limb of the loop of Henle.
People suffering from Gitelman's syndrome present symptoms identical to those of patients who are on thiazide diuretics, given that the affected transporter is the exact target of thiazides.
Clinical signs of Gitelman syndrome include a high blood pH in combination with low levels of chloride, potassium, and magnesium in the blood and decreased calcium excretion in the urine. In contrast to patients with Gordon's syndrome, those suffering from Gitelman's syndrome are generally normotensive or hypotensive. Individuals affected by Gitelman's syndrome often complain of severe muscle cramps, numbness, or weakness expressed as extreme fatigue or irritability. More severe symptoms such as tetany and paralysis have commonly been reported. Abnormal heart rhythms and a prolonged QT interval can be detected on electrocardiogram and cases of sudden cardiac death have been reported due to low potassium levels. 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.
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