Familial study of the hereditary angioneurotic edema

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So-called hereditary angioneurotic edema (HANE) is an autosomal dominant hereditary disease accompanied by a decrease or defect of protein of C1-inactivator (C1-INA) and/or a fall in the C1-INA activity.We have encountered a family line of HANE with a 9-year-old girl as the proband, and the details of which were reported.Nine-year-old girl was referred to our clinic by general physician because of the swelling of right hand. As for the past history, she began to have vomiting with abdominal pain almost every month since her two years of age and was diagnosed to have cyclic vomiting. She began to have swollen face, hands and feet frequently at 3 years of age. Similar symptoms were reportedly observed in her mother while young and also in her maternal grandmother. Suspecting nephritis, patient was snbjected to the various examinations at our clinic. Because of a marked decrease in the complement, HANE was suspected and her family members (parents and three sisters) were subjected to examinations.CH50 was decreased markedly in the patient, maternal grandmother, mother and the youngest sister, while C1q, C1s, C1-INA and C4 were also decreased prominently compared with the control. However, CH50 was quite normal in her father and the middle sister.On the basis of results obtained, diagnosis was established as being a family line of HANE with a 9-year-old girl as the proband.
日本臨床免疫学会の論文