[Autosomal dominant polycystic kidney disease. A comparative genetic and clinico-radiological study between patients with normal renal function and their healthy relatives].
We studied 6 families with autosomal dominant polycystic kidney disease (ADPKD), to compare patients with normal renal function and healthy family members. From 38 subjects, 20 were carried of the genetic abnormality associated to the disease (however, in 4 renal cysts were absent) and 18 were healthy relatives. We did not found any difference between the two groups in respect to clinical manifestations, physical examination or blood chemistry and renal function tests studied, except an 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 ADPKD, but not in healthy relatives. We conclude that in early stages of the disease, patients with ADPKD do not have clinical or analytical abnormalities although they have an increase in kidney size. Genetic studies have great value to detect patients in early stages of the disease.
D000293:Adolescent; D000328:Adult; D016009:Chi-Square Distribution; D002648:Child; D002885:Chromosomes, Human, Pair 16; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D014463:Ultrasonography
D004247:DNA
Enfermedad renal poliquística autosómica dominante. Estudio genético y clínico-radiológico comparativo entre los pacientes con función renal normal y sus familiares sanos.