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Intern Med. 2016;55(19):2885-2887. Epub 2016 Oct 1.

Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation.

Author information

1
Emergency and Critical Care Center, Kishiwada Tokushukai Hospital, Japan.

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.

PMID:
27725554
PMCID:
PMC5088555
DOI:
10.2169/internalmedicine.55.6951
[Indexed for MEDLINE]
Free PMC Article

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