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신생아 Bartter 증후군 1례

A Case of Neonatal Bartter Syndrome

한혜원|박영서|이주훈|유정민
대한소아신장학회 (The Korean Society Of Pediatric Nephrology)|2005.10|Childhood Kidney Diseases (Childhood Kidney diseases)|제9권 제2호|pp. 255-262

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참고문헌

주제분류소아과학

초록

신생아 Bartter 증후군 환아를 조기에 진단하고 조기에 치료하는 것은 정상 성장과 발달을 얻을 수 있을 뿐만 아니라, 고칼슘뇨증과 신석회화의 진행을 막고 만성신부전으로의 이행을 예방할 수 있어 중요하다. 이에 저자들은 생후 6개월에 진단하고 인도메타신과 경구칼륨투여로 증상의 호전을 보인 신생아 Bartter 증후군 1례를 보고하는 바이다.

Abstract

Bartter and Bartter-like syndromes, which include classic Bartter syndrome(type III), neonatal Bartter syndrome(type I, II or IV) and Gitelman syndrome, are autosomal - recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Neonatal Bartter syndrome is characterized by intrauterine polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration, subsequent failure to thrive, and severe hypercalciuria with nephrocalcinosis and osteopenia. It is caused by mutations in NKCC2(type I), ROMK(type II) or BSND(type IV) genes. If diagnosed and treated early, the progression to renal failure can be prevented and catch-up growth and normal development are achieved. We report here a 6 month-old infant with neonatal Bartter syndrome who presented with hypokalemic metabolic alkalosis, polyhydramnios and premature delivery, persistent high fever and dehydration, failure to thrive, hypercalciuria, and nephrocalcinosis. He received indomethacin and potassium chloride per os and showed catch-up growth and normal developmental profile at 19 months of age.

참고문헌 (32)

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