Falque V, Casanova P, Barnay C, Picon G
Service de génétique médicale et Laboratoire d'anatomo-pathologie, hôpital d'Enfants de La Timone, Marseille, France.
Pediatrie. 1989;44(5):375-7.
Two monozygotic twin sisters presented a familial nephropathy, discovered at 5 years of age. The clinical course was quite different for each patient: end-stage renal failure occurred at 5.5 years of age for one and at 14 years for the other. This difference raises the hypothesis of the role of environmental factors on the clinical expression of an inherited disease.
两名同卵双胞胎姐妹患有家族性肾病,5岁时被发现。每位患者的临床病程差异很大:其中一人在5.5岁时发展为终末期肾衰竭,另一人则在14岁时发展为终末期肾衰竭。这种差异引发了关于环境因素在遗传性疾病临床表现中作用的假说。