title: Autosomal recessive polycystic kidney disease: outcomes from a single-center experience.
abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a relatively common form of pediatric polycystic kidney disease with an incidence of 1:20,000 live births. Previous reports, primarily from populations of European origin, indicate that the clinical presentation and disease course are quite variable. Using a retrospective study design, we sought to determine whether the clinical course and outcome of our multi-ethnic patient cohort differs from the published literature. A 10-year (1990-2000) retrospective study was conducted in which we reviewed the clinical, histopathological, and imaging records of our 31 ARPKD patients. Patients were diagnosed between 0 and 14 years of age, with 17 (55%) presenting within the 1st month of life. The mean follow-up was 67 months and age at last follow-up ranged from 0.5 to 16 years. Of the 17 patients diagnosed as neonates, 11 (65%) had respiratory insufficiency complicated by pneumothoraces. Two died shortly after birth and 2 died within the 1st year of life due to respiratory failure. Among the 13 neonatal survivors, 7 (54%) developed progressive renal insufficiency, whereas 6 of 14 (43%) of those children who presented beyond 1 month of age developed renal insufficiency. Hypertension was present in 55% of our patients, with nearly all neonatal survivors requiring antihypertensive management. Evidence of portal hypertension was found in 10 (37%) of the 27 patients who survived the 1st year of life. In our multi-ethnic ARPKD cohort, the 1-year survival rate (87%) and the clinical variability are comparable to those previously reported. With the recent identification of the PKHD1 gene, characterization of disease-causing mutations should provide new insights into the molecular basis for this phenotypic variability.
authors.affiliation: Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G1X8, Canada.
authors.forename: Rhona
authors.initials: R
authors.lastname: Capisonda
authors.forename: Veronique
authors.initials: V
authors.lastname: Phan
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Traubuci
authors.forename: Alan
authors.initials: A
authors.lastname: Daneman
authors.forename: J Williamson
authors.initials: JW
authors.lastname: Balfe
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Guay-Woodford
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology; D006975:Hypertension, Portal / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D017044:Polycystic Kidney, Autosomal Recessive / Q000150:complications / Q000000981:diagnostic imaging / Q000401:mortality*; D012189:Retrospective Studies; D014463:Ultrasonography