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Journal of the Korean Society of Pediatric Nephrology 2005;9(2): 255-262.
신생아 Bartter 증후군 1례
유정민, 이주훈, 한혜원, 박영서
1울산대학교 의과대학 서울아산병원 소아과
2울산대학교 의과대학 서울아산병원 소아과
3을지병원 소아과
4울산대학교 의과대학 서울아산병원 소아과
A Case of Neonatal Bartter Syndrome
Jeong Min Ryu, Joo Hoon Lee, Hye Won Han, Young Seo Park
1Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
2Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
3Department of Pediatrics, Eul Ji University, School of Medicine
4Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
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Battler and Bartter-like syndromes, which include classic Bartter syndrome(type III), neonatat Bartter syndrome(type I, II or IV) and Gitelman syndrome, are autosomal - recessively inherited renal tubular disorders characterized b)r 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 show ed catch-up growth and normal developmental profile at 19 months of age. (J Korean Soc Pediatr Nephrol 2005;9:255-262)
Key words: Bartter syndrome | Neonate | Hypokalemic metabolic alkalosis | Hypercalciuria
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