A 6-year-old Female With Frequent Vomiting and Carpopedal Spasm 6-Year-Old Female with Carpopedal Spasm
Journal of Pediatric Nephrology,
Vol. 12 No. 1 (2024),
10 Farvardin 2025
https://doi.org/10.22037/jpn.v12i1.46213
Abstract
Background and Aim: Gitelman syndrome (GS) is a rare tubulopathy with an autosomal
recessive inheritance pattern. Mutations in the thiazide-sensitive Na-Cl transporter gene lead
to hypokalemia, metabolic alkalosis, and hypomagnesemia.
Case Presentation: In this case report, we introduced a 6-year-old female who presented
with urinary tract infection symptoms and frequent vomiting. She suffered from carpopedal
spasm when blood sampling was done. At presentation, she had acute respiratory alkalosis
with complete metabolic compensation, mild hypokalemia, and hypomagnesemia. After
discharge, further studies, including genetic testing, were conducted, which identified an
SCL12A3 mutation—a homozygous pathogenic variant—that confirmed the diagnosis of
Gitelman syndrome. Oral supplementation of potassium and magnesium was initiated for
treatment.
Conclusion: The diagnosis of GS can be easily missed. Clinical Suspicion is the first step
toward confirming a diagnosis.
- Gitelman syndrome (GS)
- Metabolic
- Alkalosis
- Hypokalemia
- Hypomagnesemia
- Hypocalciuria
- SLC12A3,
- Mutation
How to Cite
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