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논문분류	춘계학술대회 초록집
제목	A case of Gitelman syndrome presenting with short stature
저자	*Jin-soon SUH
출판정보	2017; 2017(1):
키워드	Gitelman syndrome, short stature
초록	Case Study : Gitelman syndrome (GS) is one of the most frequently inherited renal tubular disorders, transmitted as an autosomal recessive trait. Mutations in the solute carrier family 12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter are found in the majority of GS patients. It is characterized by hypokalemic metabolic alkalosis in combination with hypomagnesemia and low urinary calcium excretion. GS patients experience muscle weakness and tetany, abdominal pain, vomiting and rarely sudden cardiac arrest, while some patients are asymptomatic. In general, growth is normal. We report a 14-year-old boy who had been diagnosed as GS while being under inpatient investigation for short stature. A 15-year-boy was referred to the Division of Pediatric Nephrology because of incidentally found hypokalemia. He visited our institution for the test of short stature. He was delivered at 40 weeks with 3.4kg by cesarean delivery. His height was 145.7 cm (<3 percentile) and the weight was 35.7kg (<3 percentile). Initial blood pressure was 100/60mmHg. There was no specific finding other than short stature. Laboratory investigations revealed: serum BUN/creatinine 8/0.47 mg/dL, serum sodium/potassium/chloride 140/2.8/97 mEq/L and serum calcium/magnesium/phosphorus 9.8/1.4/4.8 mg/dL. Blood gas analysis showed pH 7.427, bicarbonate 35.4mEq/L and base excess 10.8. Random urine calcium to creatinine ratio was 0.02. Random urine potassium was 29.3mEq/L and transtubular potassium gradient was 8. Mutational study of the SLC12A3 gene revealed that the patient had compound heterozygous mutations, compatible with Gitelman syndrome. The patient was treated with oral magnesium and potassium supplementation.
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