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

This collaborative group describes the clinical course of 66 boys and 49 girls with autosomal recessive polycystic kidney disease (ARPKD). T he patients, enrolled from 1987 to 1993, were followed up after birth and all survived at least 1 month The patients were followed up clinic ally and with laboratory examination at entry and usually at least onc e per year thereafter. Body weight, height, blood pressure measurement s, serum creatinine, calculated glomerular filtration rate (GFR), urin alysis, and ultrasound were obtained. Age at diagnosis varied from pre natal to greater than 5 years. In 103 children diagnosed after birth, the clinical features leading to further examination included: palpabl e abdominal masses in 47, hypertension in 25, urinary tract infections in 13, and a family history of ARPKD in 9. Other manifestations inclu ded hepatosplenomegaly, respiratory failure, failure to thrive, eospha geal varices, and enuresis. During the study 70% of the children were treated with antihypertensive drugs; 51% were hypertensive at initial diagnosis, requiring drug therapy. In 68% of the children the total ki dney length was above the with percentile. Urinary tract infections we re observed more often in girls than in boys, 43% vs 20%. Proteinuria was observed in almost half of the patients. Twenty-five percent of th e children had a height, below die 3rd percentile for age. This was li kely due to renal failure since 34 of the 28 had decreased GFR. Forty- six percent of the children presented with clinical signs of hepatic f ibrosis assessed by liver involvement, esophageal varices, or spleen e nlargement. A total of 13 patients died during the observation period, with a female predominance. Death occur-red in the first year of life in 10 patients and was due to sepsis, asphyxia, cardiac failure, sudd en infant death syndrome, and Potter's syndrome. Kaplen-Meier survival curves showed that the 1-year survival for boys was 94% and 82% for g irls. Beyond the third year of life the survival probability decreased to 79% for girls; conversely no male patient died after the first yea r of life. The time to dialysis and. transplantation was variable. Med ian age of onset of an increase in serum creatinine or decrease in GFR was about 1 year of age. The mean age of the children with a serum cr eatinine greater than 2 standard deviations above the mean was age 4 y ears. End-stage renal disease occurred in a total of 11 patients, 7 fe males and 1 males.