1630 THE NATURAL HISTORY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN

Abstract

Polycystic kidney disease in children has often been called “infantile” on the basis of age alone; we sought to identify children <18 years of age with autosomal dominant polycystic kidney disease (APKD) documented by family workup. Twenty-four children were diagnosed by ultrasound as having APKD; 33 were suspicious for APKD (SAPKD) when unilateral, inhomogeneous or <5 cysts were seen. The 24 children with APKD were 9.3±6.4 yr. of age (x ± 1 S.D.) with followup of 7.5±6.5 yr. (range 0-29 yr.). Sixty-two percent of APKD children had symptoms at presentation (abdominal pain, headaches, gross hematuria), 25% had hypertension (HTN), 20% had hernias, 12% had boney abnormalities. Forty-two percent had progression during followup (increased cysts, increased HTN, or decreased renal function). Twenty-one percent reached end-stage renal disease (ESRD) in 14.6±10.7 yr. (range 3-29 yr.). Four children had APKD diagnosed <1 year of age with followup 6.6±5.8 yr. Two reached ESRD: one at age 3, another at age 15 yr. The other two are stable at 1.5 and 5 yr. post-diagnosis. Thirty-three children with SAPKD (x age 12.7±3.4) had followup of 5.6±3.7 yr. Twenty percent had symptoms compatible with APKD, 77% progressed, 0% reached ESRD. Conclusions: There is wide variation in the onset and progression of APKD in childhood. Children with SAPKD may have prolonged stability but warrant meticulous followup. APKD in childhood is associated with other abnormalities.