Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Case report
Year : 2017 | Month : July | Volume : 11 | Issue : 7 | Page : OD05 - OD06

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

Prabhat Kumar, Gargi Sasmal, Shreya Gupta, Renu Saxena, Sudha Kohli

1. Senior Resident, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India. 2. Postgraduate Student, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India. 3. Postgraduate Student, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India. 4. Consultant, Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. 5. Consultant, Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.

Correspondence Address :
Dr. Gargi Sasmal,
Postgraduate Student, Department of General Medicine, Dr. Ram Manohar Lohia Hospital,
Baba Kharak Singh Marg, New Delhi, India.
E-mail: gargisplasharoma@yahoo.co.in

Abstract

Crigler Najjar Syndrome (CNS) Type 2 is an uncommon genetic disorder characterised by non-haemolytic unconjugated hyperbilirubinemia. It is caused by mutations in the UGT1A1 gene which codes for the enzyme uridine diphosphate glucoronosyl transferase- 1, required for the conjugation and further excretion of bilirubin from the body. Affected individuals are usually asymptomatic apart from the jaundice and investigations reveal isolated indirect hyperbilirubinemia. It can be conveniently diagnosed by evaluating the response to phenobarbitone in terms of fall in bilirubin levels. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. However, case reports documenting the genetic mutational analysis are sparse. We report one such rare case.

Keywords

Gilbertís syndrome, Isolated indirect hyperbilirubinemia, Phenobarbitone

How to cite this article :

Prabhat Kumar, Gargi Sasmal, Shreya Gupta, Renu Saxena, Sudha Kohli. CRIGLER NAJJAR SYNDROME TYPE 2 (CNS TYPE 2): AN UNWONTED CAUSE OF JAUNDICE IN ADULTS. Journal of Clinical and Diagnostic Research [serial online] 2017 July [cited: 2017 Sep 20 ]; 11:OD05-OD06. Available from
http://jcdr.net/back_issues.asp?issn=0973-709x&year=2017&month=July&volume=11&issue=7&page=OD05-OD06&id=10221

DOI and Others

DOI: 10.7860/JCDR/2017/28195.10221


Date of Submission: Mar 10, 2017
Date of Peer Review: Apr 12, 2017
Date of Acceptance: May 31, 2017
Date of Publishing: Jul 01, 2017


Financial OR OTHER COMPETING INTERESTS: None.

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