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 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.
Department of Pediatrics, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Özmert Ma
ÖM
Özdemir
Department of Pediatrics, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Ceren
C
Çıralı
Department of Pediatric Endocrinology, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Sebahat
S
Yılmaz Ağladıoğlu
Department of Pediatric Nephrology, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Havva
H
Evrengül
Department of Genetics, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Emre
E
Tepeli
Department of Pediatrics, Division of Neonatology, Pamukkale University Faculty of Medicine, Denizli, Turkey. hacergin@yahoo.com.
Hacer
H
Ergin
D001477:Bartter Syndrome / Q000150:complications* / Q000175:diagnosis; D002769:Cholelithiasis / Q000150:complications* / Q000175:diagnosis; D005183:Failure to Thrive / Q000150:complications; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000175:diagnosis; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis*; D008297:Male; D014057:Tomography, X-Ray Computed; D017585:Ultrasonography, Doppler, Transcranial
cholelithiasis; hydrocephalus; neonatal Bartter syndrome