Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association

Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis i...

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Veröffentlicht in:Pediatrics international : official journal of the Japan Pediatric Society 2016, Vol.58 (9), p.912-915
Hauptverfasser: Özdemir, Özmert Ma, Çıralı, Ceren, Yılmaz Ağladıoğlu, Sebahat, Evrengül, Havva, Tepeli, Emre, Ergin, Hacer
Format: Report
Sprache:eng
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Zusammenfassung:Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS.
ISSN:1442-200X
DOI:10.1111/ped.12999