Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report

Coexistence of mutations of Gilbert’s syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia—a case report

Abstract Background Jaundice in the newborn period is a very common entity; rare inherited causes are often forgotten. Persistent unconjugated hyperbilirubinemia in the intermediate levels with non-hemolytic features must prompt the necessity for evaluating for genetic defects in bilirubin metabolis...

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Bibliographic Details
Main Authors: Ramya Srinivasa Rangan, Shagun Shah, C. T. Deshmukh
Format: Article
Language:English
Published: SpringerOpen 2023-10-01
Series:Egyptian Pediatric Association Gazette
Subjects:
Crigler-Najjar syndrome type II
Gilbert’s syndrome
UGT1A1
Intermediate hyperbilirubinemia
Double mutation
Genetic counseling
Online Access:https://doi.org/10.1186/s43054-023-00192-9

Internet

https://doi.org/10.1186/s43054-023-00192-9

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