AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISE ASE - COMPARATIVE GENETIC AND CLINICORADIOLOGICAL STUDY OF PATIENTS WITH NORMAL RENAL-FUNCTION VERSUS THEIR HEALTHY RELATIVES

We studied 6 families with autosomal dominant polycystic kidney diseas e (ADPKD), to compare patients with normal renal function and healthy family members, From 38 subjects, 20 were carried of the genetic abnor mality associated to the disease (however, in 4 renal cysts were absen t) and 18 were healthy relatives. We did not found any difference betw een the two groups in respect to clinical manifestations, physical exa mination or blood chemistry and renal function tests studied, except a n increase of phosphaturia in ADPKD patients. However, an increase in kidney size in ADPKD was noted, more evident in hypertensive patients, The blood pressure was correlated with kidney size in patients with A DPKD, but not in healthy relatives. We conclude that in early stages o f the disease, patients with ADPKD do not have clinical or analytical abnormalities although they have an increase in kidney size. Genetic s tudies have great value to detect patients in early stages of the dise ase.