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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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Autores principales: Iijima, Shigeo, Ohzeki, Takehiko, Maruo, Yoshihiro
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2011
Materias:
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.
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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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