title: [A family of acute intermittent porphyria].
abstract: A 62-year-old man who had twice received laparotomies for abdominal pain of unknown origin was admitted to our hospital with acute abdominal pain. His family history of acute intermittent porphyria (AIP) suggested that it arose from acute porphyria. We treated the patient with 5% glucose solution by i.v. drip infusion and his abdominal pain improved rapidly. Diagnosis of AIP was established by the demonstration of reduced erythrocyte porphobilinogen deaminase (PBGD) activity and a point mutation (CAG --> CGG) in a splicing site in intron 10/exon 11 in the PBGD gene by DNA analysis. For screening of AIP carriers in his family, we measured erythrocyte PBGD activity. Four of his seven children were successfully diagnosed as AIP carriers. This is the ninth AIP family report, in which a mutation in the PBGD gene was revealed by DNA analysis.
authors.affiliation: Division of Hematology, NTT Kanto Medical Center.
authors.forename: Masaki
authors.initials: M
authors.lastname: Igarashi
authors.forename: Makoto
authors.initials: M
authors.lastname: Daimon
authors.forename: Kensuke
authors.initials: K
authors.lastname: Usuki
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hirai
authors.forename: Fumio
authors.initials: F
authors.lastname: Nakahara
authors.forename: Kimiko
authors.initials: K
authors.lastname: Iijima
authors.forename: Seiko
authors.initials: S
authors.lastname: Iki
authors.forename: Masao
authors.initials: M
authors.lastname: Kondo
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
authors.forename: Akio
authors.initials: A
authors.lastname: Urabe
mesh_terms: D015746:Abdominal Pain / Q000188:drug therapy / Q000209:etiology; D015415:Biomarkers / Q000097:blood; D002927:Cimetidine / Q000008:administration & dosage; D005091:Exons / Q000235:genetics; D006580:Genetic Carrier Screening / Q000379:methods; D005947:Glucose / Q000008:administration & dosage; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood / Q000235:genetics; D007262:Infusions, Intravenous; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D015415:Biomarkers; D022821:RNA Splice Sites; D002927:Cimetidine; D011163:Hydroxymethylbilane Synthase; D005947:Glucose