The clinical course of 66 boys and 49 girls with autosomal recessive polycystic kidney disease recruited from departments of paediatric nephrology was investigated over a mean observation period of 4.92 years. This is a selected study group of children from departments of paediatric nephrology who in most cases survived the neonatal period, since birth clinics did not participate. The median age at diagnosis was 29 days (prenatal to 14.5 years). We observed decreased glomerular filtration 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). Kidney 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%, and clinical signs of hepatic fibrosis were detected in 46%. Thirteen patients (11%) died during the observation period, 10 of them in the first year of life. There was a statistically significant sex difference in terms of a more pronounced progression in girls. The survival probability at 1 year was 94% for male patients and 82% for female patients (p < 0.05) in this study. Urinary tract infections occurred more frequently in girls (p < 0.025) and were observed earlier. In addition, more girls had impaired renal function, developed end-stage renal disease and showed growth retardation; these differences, however, were not significant. For the children in this study, however, our results indicate that the long-term prognosis in the majority of cases is better throughout childhood and youth than often stated.

Renal function seems to be slightly impaired in patients with unilateral multicystic renal dysplasia. The apparent tendency to regression of the dysplastic kidney and no difference in the number of complications justify a conservative management rather than operative intervention.

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In a systematic study on In order to estimate the recurrence risk to sibs of a previously diagnosed patient with early manifesting ADPKD, we found that 15 out of a total of 65 sibs of the 64 index patients (45% of the theoretically expected 32 5 gene carriers) showed comparable early manifestation. Another 10 symptom free children were diagnosed sonographically as having ADPKD before the age of 18 years, so that the total number of affected sibs was 25/65 in the study group, representing 76% of the gene carriers. Although the gene in childhood manifesting ADPKD can be transmitted through both sexes, a statistically significant (p < 0 05) maternal predominance was observed (M:F = 23:41). In affected sibs ages of onset, initial presentation, and the development of complications appeared to be similar in the majority of families.Our data indicate a high recurrence risk to sibs for early manifestation of ADPKD which has important implications for genetic counselling and clinical care of affected families and gives clues to the underlying genetic mechanism of childhood onset ADPKD.

Forty‐two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro‐ and retrospectively over a mean period of 3.7 years in a long‐term study on cystic kidney diseases in children. The intra‐ and interfamilial variability in terms of age at diagnosis, administration of antihypertensive therapy, liver affection, and renal function were evaluated. According to the 1971 subclassification of Blyth & Ockenden, defining different grades of severity, 12 patients were assigned to the perinatal, nine to the neonatal, 13 to the infantile, and eight to the juvenile subtype of autosomal recessive polycystic kidney disease. In 11 of the 20 families different subtypes were observed among affected siblings. In seven families, affected sibs belonged to adjacent subtypes, while major intrafamilial differences were observed in only four families. The defined subtypes, therefore, cannot be regarded as appropriate in distinguishing genetic groups of autosomal recessive polycystic kidney disease. With respect to the severity of autosomal recessive polycystic kidney disease, there is a wide spectrum of phenotypic manifestations, ranging from stillbirths to mildly affected adults, while intrafamilial variability of the clinical picture is generally small with multiple allelism as the most likely genetic explanation. Age at death, however, showed gross variation in eight sibships. Differences in the clinical course between several siblings cannot be explained by a sex influence in autosomal recessive polycystic kidney disease.