Two Japanese patients with gitelman syndrome.
Toshihiro Tajima1, Yuichi Tabata2, Kayoko Tao3
1Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Summary
Gitelman syndrome (GS), a renal tubular disorder, often presents with early childhood symptoms like nocturnal enuresis. Early diagnosis is crucial as manifestations can be underestimated, delaying treatment for this condition caused by SLC12A3 gene mutations.
Area of Science:
- Nephrology
- Genetics
- Pediatric Medicine
Background:
- Gitelman syndrome (GS) is a genetic renal tubular disorder affecting magnesium and potassium reabsorption.
- It stems from mutations in the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene.
- GS presents with hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria, with variable clinical manifestations.
Purpose of the Study:
- To highlight the underrecognized symptom of nocturnal enuresis in Gitelman syndrome.
- To emphasize the importance of early diagnosis in pediatric GS cases.
- To report on two Japanese pediatric patients with GS presenting with nocturnal enuresis.
Main Methods:
- Clinical case study of two Japanese patients diagnosed with Gitelman syndrome.
- Review of patient histories focusing on symptoms like nocturnal enuresis, fatigue, and muscle cramps.
- Genetic analysis of the SLC12A3 gene to identify mutations.
Main Results:
- Both patients exhibited laboratory findings consistent with Gitelman syndrome.
- Genetic sequencing revealed previously reported mutations in the SLC12A3 gene in both individuals.
- Nocturnal enuresis was a prominent, persistent symptom in both patients since early childhood, contributing to delayed diagnosis.
Conclusions:
- Nocturnal enuresis is a frequent and significant early symptom of Gitelman syndrome in children.
- Underestimation of GS symptoms, including enuresis, can lead to delayed diagnosis and treatment.
- Recognizing these early signs is vital for timely intervention in pediatric Gitelman syndrome.
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