Document Detail


Porphyrias in Japan: compilation of all cases reported through 2002.
MedLine Citation:
PMID:  15239394     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The first case of porphyria on record in Japan was a patient with congenital erythropoietic porphyria (CEP) reported by Sato and Takahashi in 1920. Since then until the end of December 2002, 827 cases of porphyrias have been diagnosed from characteristic clinical and/or laboratory findings (463 males, 358 females, and 6 of unknown sex). Essentially all inherited porphyrias have been found in Japan, with the incidences and clinical symptoms generally being similar to those reported for other countries. The male-female ratio was approximately 1:1 for CEP, whereas it was higher for erythropoietic protoporphyria. In contrast, preponderances of female patients exist with acute hepatic porphyrias, such as acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP), and with undefined acute porphyria. Although porphyria cutanea tarda (PCT) is believed to be increasing recently in women in other countries because of smoking and the use of contraceptives, it is still by far more prominent in males in Japan than in females. The recent increasing contribution of hepatitis C virus infection to PCT in Japan has also been recognized. but there have been no PCT cases in Japan with HFE gene mutations. Familial occurrence and consanguinity were high for CEP, as expected; however, significant consanguinity was also noted in families where CEP, AIP, HCP, VP, or PCT occurred as a single isolated case without a family history of disease. This survey also revealed that as many as 71% of acute hepatic porphyria cases were initially diagnosed as nonporphyria and later revised or corrected to porphyria, indicating the difficulty of diagnosing porphyria in the absence of specific laboratory testing for porphyrins and their precursors in urine, stool, plasma, and erythrocyte samples.
Authors:
Masao Kondo; Yuzo Yano; Masuo Shirataka; Gumpei Urata; Shigeru Sassa
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Publication Detail:
Type:  Historical Article; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  International journal of hematology     Volume:  79     ISSN:  0925-5710     ISO Abbreviation:  Int. J. Hematol.     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-07-08     Completed Date:  2004-07-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9111627     Medline TA:  Int J Hematol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  448-56     Citation Subset:  IM    
Affiliation:
Division of Applied Nutrition, National Institute of Health and Nutrition, Tokyo, Japan. kondo@nih.go.jp
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Data Collection
Female
History, 20th Century
Humans
Incidence
Infant
Infant, Newborn
Japan
Male
Middle Aged
Pedigree
Porphyrias / genetics,  history,  pathology*
Porphyrias, Hepatic
Sex Factors
Grant Support
ID/Acronym/Agency:
DK-32890/DK/NIDDK NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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