Literature DB >> 33604208

A Rare Case Report of Crigler Najjar Syndrome Type II.

Eusha Abdul Raffay1, Ayesha Liaqat1, Maria Khan2, Ali I Awan3, Bakhat Mand1.   

Abstract

Crigler-Najjar syndrome is an inborn error of metabolism caused by a point mutation in one of the five exons of UGT1A1 gene, the product of which is responsible for elimination of bilirubin via bile. A number of hyperbilirubinemia disorders similar to Crigler-Najjar syndrome are reported, but they differ in their level of unconjugated bilirubin and responses to the treatment. Here we report a 14-year-old male patient admitted to hospital with the complaint of vomiting and frequent tonsillitis. Further examination revealed that he was jaundiced since birth and had a family history of similar disorder. This report is about an extremely rare case of Crigler-Najjar syndrome type II and also management of the condition to provide the patient with a healthy lifestyle.
Copyright © 2021, Abdul Raffay et al.

Entities:  

Keywords:  crigler-najjar syndrome; hyperbilirubinemia; phenobarbital; ugt1a1 gene; unconjugated bilirubin

Year:  2021        PMID: 33604208      PMCID: PMC7880822          DOI: 10.7759/cureus.12669

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  3 in total

1.  Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.

Authors:  Ayesha Liaqat; Azib Shahid; Hamza Attiq; Atoofa Ameer; Muhammad Imran
Journal:  J Coll Physicians Surg Pak       Date:  2018-10       Impact factor: 0.711

Review 2.  Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.

Authors:  M Sampietro; A Iolascon
Journal:  Haematologica       Date:  1999-02       Impact factor: 9.941

3.  Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults.

Authors:  Prabhat Kumar; Gargi Sasmal; Shreya Gupta; Renu Saxena; Sudha Kohli
Journal:  J Clin Diagn Res       Date:  2017-07-01
  3 in total

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