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https://hdl.handle.net/11499/9433| Title: | Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association | Authors: | Özdemir, Özmert Muhammet Ali Çıralı, Ceren Yılmaz Ağladıoğlu, Sebahat Evrengül, Havva Tepeli, Emre Ergin, Hacer |
Keywords: | cholelithiasis hydrocephalus neonatal Bartter syndrome alanine aminotransferase aspartate aminotransferase bilirubin cholesterol gamma glutamyltransferase high density lipoprotein cholesterol low density lipoprotein cholesterol nitrogen sodium potassium chloride cotransporter 2 triacylglycerol urea adult Apgar score artificial ventilation Bartter syndrome case report clinical feature computer assisted tomography dehydration disease association echography enteric feeding fetus distress follow up gallstone gene gene mutation human hydramnios hypochloremia hypokalemia KCNJ1 gene kidney calcification laboratory test male metabolic alkalosis Note perinatal period physical examination polyuria premature labor priority journal rare disease respiratory distress SLC12A1 gene thorax radiography total parenteral nutrition urea nitrogen blood level urine volume complication failure to thrive Infant, Premature, Diseases newborn prematurity transcranial Doppler ultrasonography x-ray computed tomography Bartter Syndrome Cholelithiasis Failure to Thrive Humans Hydrocephalus Infant, Newborn Infant, Premature Male Tomography, X-Ray Computed Ultrasonography, Doppler, Transcranial |
Publisher: | Blackwell Publishing | 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. © 2016 Japan Pediatric Society | URI: | https://hdl.handle.net/11499/9433 https://doi.org/10.1111/ped.12999 |
ISSN: | 1328-8067 |
| Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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