Hereditary angioedema with recurrent abdominal pain in a patient with a novel mutation

Hiromasa Yakushiji, Arito Kaji, Keitarou Suzuki, Motohiro Yamada, Takahiko Horiuchi, Masahiro Sinozaki

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient’s C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature. As the patient had no family history of hereditary diseases, it was considered to be a de novo mutation.

Original languageEnglish
Pages (from-to)2885-2887
Number of pages3
JournalInternal Medicine
Volume55
Issue number19
DOIs
Publication statusPublished - 2016

All Science Journal Classification (ASJC) codes

  • Internal Medicine

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