Autosomal recessive polycystic kidney disease in adulthood

Background. Renal cysts arising from collecting ducts, congenital hepatic f ibrosis, and recessive inheritance characterize autosomal recessive polycys tic kidney disease (ARPKD). The disorder usually manifests in infancy, with a high mortality rate in the first year of life. For the patients who surv ive the neonatal period, the probability of being alive at 15 years of age ranges from 50 to 80%, with 56-67% of them not requiring renal replacement therapy at that stage. Some develop portal hypertension. Long-term outcome of adults escaping renal insufficiency above age 18 is largely unknown. Method. In consecutive patients with ARPKD and autonomous renal function at age 18, clinical course of kidney and liver disease in adulthood and statu s at last follow-up were evaluated. Progression of renal insufficiency was assessed by the rate of decline of creatinine clearance, according to Schwa rtz's formula before age 18 and Cockcroft and Gault formula thereafter. Sev erity of liver involvement was estimated by imaging techniques, liver funct ion tests, and endoscopy. Results. Sixteen patients from 15 families were included. ARPKD was diagnos ed between I day and 13 years of age. From diagnosis, mean follow-up period lasted 24 +/- 9 years. Before age 18, nine patients (56%) were hypertensiv e, nine (56%) had renal failure, and four (25%) had portal hypertension. Be yond age 18, no additional patient became hypertensive, and another five de veloped progressive renal insufficiency; altogether, the mean yearly declin e of creatinine clearance was 2.9 +/- 1.6 ml/min. Portal hypertension was r ecognized in two additional patients. Four patients experienced gastro-oeso phageal bleeding, while recurrent cholangitis or cholangiocarcinoma develop ed in one case each. At the end of follow-up, 15/16 patients (94%) were ali ve at a mean age of 27 (18 55) years. Two patients had it normal renal func tion, 11 had chronic renal insufficiency, one was on regular dialysis, and two had functioning kidney grafts. Four patients had required it porto-syst emic shunt. Conclusions. A subset or ARPKD patients with autonomous renal function at a ge 18 experiences slowly progressive renal insufficiency. With prolonged re nal survival, complications related to portal hypertension are not rare, re quiring careful surveillance and appropriate management.