Polycystic Kidney Disease in the First Year of Life

Abstract

To determine the frequency of autosomal recessive and autosomal dominant polycystic kidney disease (PKD) in infants and to compare the rate of progre ssion of these cond!tions, we conducted a retrospective survey of 48 patients Who were seenwith PKD before I year of age and who survived the first month of age. Seventeen patients had recessive PKD~ six had dominant PKD. Eighteen patients had insufficient data to categorize the type of PKD with certainty. Seven patients were classified as other; three had glomerulocystic disease and the remainder had multiple malformation syndromes or tuberous sclerosis. Renal ultrasonography and excretory urography accurately detected 15 of 17 patients with recessive PKD, but only one patient with dominant PKD was correctly diagnosed by excretory urography. The majority of patients in all groups required antihypertensive therapy. The 17 children with recessive PKD have been followe d up for 6.1 • 4.3 (SD) years. Eight patients are doing well. Two patients have died; f ive others have required treatment for renal failure. Only one patient has an estimated glomerular filtration rate within the normal range after 6 years of age. Long-term evaluation of most of the patients with dominant pKD is not yet avai lable; however, by age 42 months one patient has required dialysis. To provide optimum genetic counseling and accurate diagnosis for patients with PKD, a combinat ion of careful family evaluation, radiography, and liver or kidney biopsy is required. The outcome of patients who survive the neonatal period appears not to be so gr!m as previously feared, underscoring the importance of aggressive supportive care and the need for physician and family education. (J PEDIATR 1987;111693-9)