Autosomal dominant polycystic kidney disease in childhood: a longitudinal study

One hundred fifty-four children aged eighteen years or younger from 83 families with autosomal-dominant polycystic kidney disease were studied by ultrasonography or excretory urography. Twenty-three children had bilateral renal involvement with at least five cysts (ADPKD), 28 children were classified as suspicious (SADPKD), and 103 children had no renal involvement (NADPKD) detected by ultrasound. Seventy-four percent of the ADPKD children had signs or symptoms compatible with the diagnosis of ADPKD, compared to 34% of the NADPKD and 36% of the SADPKD children (both P less than 0.05). Three of the 23 ADPKD children had elevated serum creatinines at the time of diagnosis, while all of the NADPKD and SADPKD children had normal renal function. Renal area by ultrasonography (width X depth) was greater among the ADPKD children compared to the SADPKD and NADPKD groups (P less than 0.05). On follow-up 30 of the 37 NADPKD children remained NADPKD, three were reclassified as SADPKD, and four progressed to ADPKD after 18 years of age. All of the NADPKD children had normal renal function on follow-up. Overall, 14 children had suspicious ultrasounds at some point with follow-up ultrasonography and ten (71%) progressed to ADPKD. All SADPKD children maintained normal renal function. Eight of 18 ADPKD children had progression of the disease manifested by development of hypertension and/or decreased renal function. Three children progressed to end-stage renal disease. Five ADPKD children were diagnosed before one year of age, two of them via prenatal ultrasonography. One fetus was aborted after documentation of oligohydramnios.(ABSTRACT TRUNCATED AT 250 WORDS)