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Gitelman's syndrome: report of one case
Chan-Fai Chan1, Shu-Chi Mu, Beng-Huat Lau
1Department of Pediatrics, Shin Kong Wu Ho-Su Memorial, Taipei, Taiwan.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|June 28, 2008
Summary
Gitelman syndrome, a rare kidney disorder, was diagnosed in an 8-year-old girl due to hypokalemia. Novel mutations in the NCC gene were identified, and treatment with supplements led to normal development.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder.
- It presents with hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
- GS is typically caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter (NCC).
Observation:
- An 8-year-old girl presented with incidentally discovered hypokalemia before an appendectomy.
- Biochemical studies confirmed findings consistent with Gitelman syndrome.
- Genetic analysis revealed two previously unreported mutations in the NCC gene: N442K and IVS6-1G > A.
Findings:
- The patient was diagnosed with Gitelman syndrome.
- Two novel mutations in the SLC12A3 gene were identified.
- The identified mutations were N442K and IVS6-1G > A.
Implications:
- Early diagnosis and management of Gitelman syndrome are crucial.
- Genetic confirmation aids in understanding disease mechanisms.
- Supplementation with potassium and magnesium can lead to normal growth and development in affected children.
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