Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association. Issue 9 (29th September 2016)

• Record Type: Journal Article
• Authors: Özdemir, Özmert MA; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer
• Is Part Of: Pediatrics international. Volume 58:Issue 9(2016)
• Page Start: 912
• Page End: 915
• Publication Date: 2016-09-29
• Subjects: cholelithiasis -- hydrocephalus -- neonatal Bartter syndrome; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12999
• Languages: English
• ISSNs: 1328-8067

Abstract

Abstract: 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.