RESUMO
INTRODUCTION: The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. METHODS: The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. RESULTS: Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281_2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. CONCLUSIONS: The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.
Assuntos
Angioedemas Hereditários/genética , Povo Asiático/genética , Proteínas Inativadoras do Complemento 1/genética , Mutação , Adolescente , Adulto , Criança , Proteína Inibidora do Complemento C1 , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita SimplesRESUMO
A 44-year-old Japanese woman was diagnosed with type 1 hereditary angioedema (HAE) at the age of 30. In March 2007, she began suffering from severe abdominal pain due to intestinal edema. After treatment with C1-INH concentrate, her symptoms disappeared. However, during the subsequent three years, the frequency of the attacks increased continuously, and C1-INH concentrate was necessary for treatment of every attack. The increase in the number of attacks might have been due to the frequent injection of C1-INH concentrate or the deterioration of her disease course. In a genetic investigation, the patient was found to have a novel mutation in the C1-INH gene.
Assuntos
Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Angioedema Hereditário Tipos I e II/complicações , Angioedema Hereditário Tipos I e II/diagnóstico , Adulto , Proteína Inibidora do Complemento C1/genética , Proteína Inibidora do Complemento C1/uso terapêutico , Feminino , Angioedema Hereditário Tipos I e II/genética , Humanos , RecidivaRESUMO
Lung cancer with hereditary angioedema was diagnosed in a 69-year-old man. Laboratory examinations revealed depletion of the fourth component of complement and C1 inhibitor activity. A bone metastasis was present. After the first chemotherapy, acute attacks of edema in the upper chest and the laryngeal mucosa occurred and dyspnea progressed, but these symptoms were immediately improved by administration of C1 inhibitor concentrate. Because of the danger of angioedema that might be expected following chemo-radiotherapy, he was treated with danazol. The patient then showed no sign of an edema attack during therapy for lung cancer.
Assuntos
Angioedema/tratamento farmacológico , Proteínas Inativadoras do Complemento 1/administração & dosagem , Danazol/administração & dosagem , Antagonistas de Estrogênios/administração & dosagem , Neoplasias Pulmonares/tratamento farmacológico , Idoso , Angioedema/complicações , Angioedema/genética , Terapia Combinada , Esquema de Medicação , Quimioterapia Combinada , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/radioterapia , MasculinoRESUMO
A 60-year-old man was treated with rifampicin, isoniazid, ethambutol and pyrazinamide for pulmonary tuberculosis. Acute renal failure developed 1 month after re-administration of rifampicin following 1 month's interruption of treatment. A renal biopsy showed crescentic lesions characteristic of rapidly progressive glomerulonephritis. This is, to our knowledge, the fourth case of rapidly progressive crescentic glomerulonephritis associated with rifampicin treatment, which responded to methylprednisolone pulse therapy followed by oral steroid therapy.
