title: Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation.
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.
authors.affiliation: Emergency and Critical Care Center, Kishiwada Tokushukai Hospital, Japan.
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yakushiji
authors.forename: Arito
authors.initials: A
authors.lastname: Kaji
authors.forename: Keitarou
authors.initials: K
authors.lastname: Suzuki
authors.forename: Motohiro
authors.initials: M
authors.lastname: Yamada
authors.forename: Takahiko
authors.initials: T
authors.lastname: Horiuchi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Sinozaki
mesh_terms: D015746:Abdominal Pain / Q000209:etiology*; D000328:Adult; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D056829:Hereditary Angioedema Types I and II / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human