Hippokratia 1999, 3(2):68 -72

N. Sotirakopoulos, T. Tsitsios, Ch. Cristodoulidou, S. Spaia, K. Mavromatidis

Abstract

Polycystic kidney disease is an autosomal dominant hereditary disease, which is inherited by the 50% of offspring, irrelevant of sex and it has a various phenotypic expression. From the beginning it was noted that the expression was similar intrafamilial, but nowadays in some studies the results were different. The aim of this study was to evaluate the timing of renal death between ancestor and offspring (in successive generations).
We have studied 47 pairs of patients with adult autosomal dominant polycystic kidney disease (ADPKD). Echo findings were used as criteria for the diagnosis. Date of dialysis initiation, ancestor and ollspring sex of parents with APDK were necessary for the inclusion in the study. We did not included more than one pair from each family.We found that the end stage renal disease in ADPKD appears in the same age between ancestors and offsprings (49.4±8.2 y vs. 52.5±11.6 y, p=NS) independently of offspring sex. Patients who inherited the disease form parents came to end stage renal failure earlier than the ancestors (48.2±8.5 y vs. 53.0±9.9 y, p<0.05), but not those who inherited the gene from the mother (51.7±7.3 y Vs 51.7±9.6 y, p=NS).In conclusion in ADPKD pts between successive generations the renal death comes : a) In offsprings as in the ancestors, b) the sex of the offspring does not has any relation to the renal death and c) renal death comes earlier in offsprings than the ancestors in patients who inherited the disease form father but not from mother.

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