Combined Mutations of Canalicular Transporter Proteins Causing Low Phospholipid-Associated Cholelithiasis and Transient Neonatal Cholestasis in an Infant.

Autor: Lourembam R; From the Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India., Malik R; Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Bolia R; From the Division of Pediatric Gastroenterology, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India.
Jazyk: angličtina
Zdroj: JPGN reports [JPGN Rep] 2021 Apr 22; Vol. 2 (2), pp. e080. Date of Electronic Publication: 2021 Apr 22 (Print Publication: 2021).
DOI: 10.1097/PG9.0000000000000080
Abstrakt: Low phospholipid-associated cholelithiasis syndrome is characterized by the development of cholelithiasis in early adulthood (<40 years of age) but is rarely diagnosed in childhood. It is associated with gene sequence variants in the ABCB4 gene encoding the multidrug resistance protein 3 which are mostly heterozygous. Transient neonatal cholestasis has been reported with heterozygous mutations in both ABCB4 and ABCB11 (Bile Salt Exporter Protein). We report a 3-month-old male with cholelithiasis and transient neonatal cholestasis in the setting of combined pathogenic heterozygous mutations in the genes ABCB4 and ABCB11. Initiation of ursodeoxycholic acid therapy led to a resolution of the cholestasis and gall stones. Our case highlights the complex nature of the genetics of cholestatic disorders.
Competing Interests: The authors report no conflicts of interest.
(Copyright © 2021 The Author(s). Published by Wolters Kluwer on behalf of European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)
Databáze: MEDLINE
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