A century of mortality in five large families with polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) characteristically leads to end-stage renal failure in the fifth or sixth decade of life, which in the absence of therapeutic measures will lead to premature death.
To determine excess mortality relative to the general population and chromosome 16-linked ADPKD patients, we studied 948 individuals who belonged to five large ADPKD families and who had at least a 50% probability of carrying the gene ; the study data derive from a time span of approximately one century.
Assessment of the diagnosis of ADPKD in the present generation was based on the characteristic roentgenographic appearance of polycystic kidneys and was confirmed by DNA analysis with flanking polymorphic markers around the polycystic gene.
In the previous generation, we used Mendelian reasoning after pedigree analysis to identify persons with a 50% or 100% probability of carrying the polycystic gene.
During the study period (1889 to 1992), 89 deaths occurred in 10,279 person-years.
Mortality was increased 1.6-fold (95% confidence interval, 1.9 to 2.0) relative to the general population and was independent of the gender of the affected family member as well as the gender of the transmitting parent.
The increased mortality was strongest in the 50 to 59 year age group (relative mortality, 9.2 ; 95% confidence interval, 2.0 to 4.8), but decreased after the 1970s, probably as a result of improvements in supportive care and, eventually, renal replacement therapy.
Mots-clés Pascal : Rein polykystique, Homme, Pronostic, Mortalité, Durée vie, Epidémiologie, Siècle 19eme, Siècle 20eme, Etude familiale, Appareil urinaire pathologie, Rein pathologie, Maladie héréditaire, Tumeur bénigne, Kyste
Mots-clés Pascal anglais : Polycystic kidney, Human, Prognosis, Mortality, Lifetime, Epidemiology, Century 19th, Century 20th, Family study, Urinary system disease, Renal disease, Genetic disease, Benign neoplasm, Cyst
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 95-0242563
Code Inist : 002B14C01. Création : 09/06/1995.