The gene expression of autosomal dominant polycystic kidney disease (ADPKD). Is there any difference within families?

Hippokratia 2000, 4(2):85-89

D. Tsitsios, N. Sotirakopoulos, M. Mouratidou, S. Papanastasiou, K. Mavromatidis


Polycystic kidney disease is caused by mutation in more than two genes and is characterized by an autosomal dominant transmission. It is known that the age at which the onset of end stage renal disease appears is more homogeneous within families than between families. We studied 102 genetic trees with ADPKD, and we found that in four families, 15 patients suffered from the disease, four women (one from each family) had a different renal expression of their abnormal gene. Especially one woman in each of the above four families continued to have normal renal function while the other members of the same family had end stage renal disease or severe renal failure. It is emphasized that there were no any differences between the members of the same family, regarding the existence of hypertension or their protein diet e.t.c, that in turn could influence their renal function. So we concluded that patients with ADPKD from the same family could have different renal expression of their abnormal gene.