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Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We expe...
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Formato: | Texto |
Lenguaje: | English |
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Yonsei University College of Medicine
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051216/ https://www.ncbi.nlm.nih.gov/pubmed/21319362 http://dx.doi.org/10.3349/ymj.2011.52.2.369 |
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author | Iijima, Shigeo Ohzeki, Takehiko Maruo, Yoshihiro |
author_facet | Iijima, Shigeo Ohzeki, Takehiko Maruo, Yoshihiro |
author_sort | Iijima, Shigeo |
collection | PubMed |
description | Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy. |
format | Text |
id | pubmed-3051216 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Yonsei University College of Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-30512162011-03-09 Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II Iijima, Shigeo Ohzeki, Takehiko Maruo, Yoshihiro Yonsei Med J Case Report Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy. Yonsei University College of Medicine 2011-03-01 2011-01-29 /pmc/articles/PMC3051216/ /pubmed/21319362 http://dx.doi.org/10.3349/ymj.2011.52.2.369 Text en © Copyright: Yonsei University College of Medicine 2011 http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Iijima, Shigeo Ohzeki, Takehiko Maruo, Yoshihiro Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title | Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title_full | Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title_fullStr | Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title_full_unstemmed | Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title_short | Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II |
title_sort | hereditary spherocytosis coexisting with udp-glucuronosyltransferase deficiency highly suggestive of crigler-najjar syndrome type ii |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051216/ https://www.ncbi.nlm.nih.gov/pubmed/21319362 http://dx.doi.org/10.3349/ymj.2011.52.2.369 |
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