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 |
|
|
Share :
|
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. |
Key words:
Bartter syndrome | Neonate | Hypokalemic metabolic alkalosis | Hypercalciuria |
|