AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE IN 115 CHILDREN - CLINICAL PRESENTATION, COURSE AND INFLUENCE OF GENDER

The clinical course of 66 boys and 49 girls with autosomal recessive p olycystic kidney disease recruited from departments of paediatric neph rology was investigated over a mean observation period of 4.92 years. This is a selected study group of children from departments of paediat ric nephrology who in most cases survived the neonatal period, since b irth clinics did not participate. The median age at diagnosis was 29 d ays (prenatal to 14.5 years). We observed decreased glomerular filtrat ion rates (GFRs) in 72% (median age at onset of decrease of GFR <2 SD, 0.6 years; range, 0-18.7 years), and 11 patients developed end-stage renal disease, Hypertension requiring drug treatment was found in 70% (median age at start of medication, 0.5 years; range, 0-16.7 years). K idney length was above the 97th centile in 68% of patients, and kidney length did not increase with age or deterioration of renal function. Urinary tract infections occurred in 30%, growth retardation in 25%, a nd clinical signs of hepatic fibrosis were detected in 46%. Thirteen p atients (11%) died during the observation period, 10 of them in the fi rst year of life, There was a statistically significant sex difference in terms of a more pronounced progression in girls. The survival prob ability at 1 year was 94% for male patients and 82% for female patient s (p < 0.05) in this study. Urinary tract infections occurred more fre quently in girls (p < 0.025) and were observed earlier. In addition, m ore girls had impaired renal function, developed end-stage renal disea se and showed growth retardation; these differences, however, were not significant. For the children in this study, however, our results ind icate that the long-term prognosis in the majority of cases is better throughout childhood and youth than often stated.