A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.

Autor:	Yakushiji H; Yakushiji Jikei Hospital, Japan., Yamagami K; Osaka City General Hospital, Japan., Hashimura C; Department of Clinical Research, National Kyushu Medical Center, Japan.; Center for Research, Education, and Treatment of Angioedema, a Specified Non-profit Corporation, Japan., Iwasaki H; Department of Clinical Research, National Kyushu Medical Center, Japan., Horiuchi T; Center for Research, Education, and Treatment of Angioedema, a Specified Non-profit Corporation, Japan.; Department of Internal Medicine, Kyushu University Beppu Hospital, Japan.
Jazyk:	angličtina
Zdroj:	Internal medicine (Tokyo, Japan) [Intern Med] 2023 Jul 01; Vol. 62 (13), pp. 2005-2008. Date of Electronic Publication: 2022 Nov 23.
DOI:	10.2169/internalmedicine.0645-22
Abstrakt:	Hereditary angioedema (HAE) is a life-threatening disease associated with recurrent episodes of subcutaneous and mucosal swelling, painful abdominal cramping, and asphyxiation. HAE has long been thought to be caused by genetic defects of C1 inhibitors (C1-INH). Recently, HAE with a normal C1 inhibitor expression (HAEnCI) was reported, and the missense mutation p.Lys330Glu (K330E) in exon 9 of the plasminogen (PLG) gene was shown to be responsible for a subset of HAEnCI. HAE with the K330E mutation in the PLG gene-PLG (HAE-PLG) has been reported in only two Japanese families in Asia. We herein report a third family with HAE-PLG in Japan.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu