[Two cases of cystic fibrosis in Japanese/German twins].
We report a case of twins with cystic fibrosis. The twins are of mixed parentage, having a Japanese mother and a German father. One case presented with meconium ileus as a neonate. The other twin was relatively healthy until the age of 6, when she was first hospitalized with a diagnosis of pulmonary aspergillosis. They have been receiving standard therapies in the United States, including digestive enzymes, vitamins, and periodic antibiotics. At the age of 19 both patients received home intravenous antibiotic therapy, and began to use an inhaled DNase at the age of 20. When the patients were 19 they were screened for the common mutations causing cystic fibrosis, and the delta F508 CFTR mutation was identified. We analyzed their CFTR genes, as well as those of their Japanese mother and grandmother. Missense mutations at exon 7 (R347H) and exon 16 were found (D979A) in the twins and in their Japanese mother.
Hojo
S
S
First Department of Internal Medicine, Kagawa Medical University, Japan.
Fujita
J
J
Obayashi
Y
Y
Ohnishi
T
T
Yamaji
Y
Y
Okada
H
H
Takahara
J
J
D000328:Adult; D044466:Asian People; D003550:Cystic Fibrosis / Q000209:etiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D044465:White People
C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator