Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults
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 ex...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2017-07-01
|
| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/10221/28195_CE(EK)_F(RK)_PF1(KM_NE_GG)_PFA(NE_SS).pdf |
| _version_ | 1818281499990949888 |
|---|---|
| author | Prabhat Kumar Gargi Sasmal Shreya Gupta Renu Saxena Sudha Kohli |
| author_facet | Prabhat Kumar Gargi Sasmal Shreya Gupta Renu Saxena Sudha Kohli |
| author_sort | Prabhat Kumar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T00:06:06Z |
| format | Article |
| id | doaj.art-7ac6df7486e74f2599b096ebb035a6e5 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-13T00:06:06Z |
| publishDate | 2017-07-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-7ac6df7486e74f2599b096ebb035a6e52022-12-22T00:06:15ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-07-01117OD05OD0610.7860/JCDR/2017/28195.10221Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in AdultsPrabhat Kumar0Gargi Sasmal1Shreya Gupta2Renu Saxena3Sudha Kohli4Senior Resident, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India.Postgraduate Student, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India.Postgraduate Student, Department of General Medicine, Dr. Ram Manohar Lohia Hospital, New Delhi, India.Consultant, Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.Consultant, Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.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.https://jcdr.net/articles/PDF/10221/28195_CE(EK)_F(RK)_PF1(KM_NE_GG)_PFA(NE_SS).pdfgilbert’s syndromeisolated indirect hyperbilirubinemiaphenobarbitone |
| spellingShingle | 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 gilbert’s syndrome isolated indirect hyperbilirubinemia phenobarbitone |
| title | Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults |
| title_full | Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults |
| title_fullStr | Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults |
| title_full_unstemmed | Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults |
| title_short | Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults |
| title_sort | crigler najjar syndrome type 2 cns type 2 an unwonted cause of jaundice in adults |
| topic | gilbert’s syndrome isolated indirect hyperbilirubinemia phenobarbitone |
| url | https://jcdr.net/articles/PDF/10221/28195_CE(EK)_F(RK)_PF1(KM_NE_GG)_PFA(NE_SS).pdf |
| work_keys_str_mv | AT prabhatkumar criglernajjarsyndrometype2cnstype2anunwontedcauseofjaundiceinadults AT gargisasmal criglernajjarsyndrometype2cnstype2anunwontedcauseofjaundiceinadults AT shreyagupta criglernajjarsyndrometype2cnstype2anunwontedcauseofjaundiceinadults AT renusaxena criglernajjarsyndrometype2cnstype2anunwontedcauseofjaundiceinadults AT sudhakohli criglernajjarsyndrometype2cnstype2anunwontedcauseofjaundiceinadults |