Autosomal recessive polycystic kidney disease: outcomes from a single-center experience

• Published in: Pediatric nephrology (Berlin, West) West), 2003-02, Vol.18 (2), p.119-126
• Main Authors: CAPISONDA, Rhona, PHAN, Veronique, TRAUBUCI, Jeffrey, DANEMAN, Alan, BALFE, J. Williamson, GUAY-WOODFORD, Lisa M
• Format: Article
• Language: English
• Subjects: Adolescent; Age; Antihypertensives; Biological and medical sciences; Child; Child, Preschool; Congenital diseases; Cysts; Female; Hospitals; Humans; Hypertension; Hypertension - etiology; Hypertension, Portal - etiology; Infant; Infant, Newborn; Kidney diseases; Kidney Failure, Chronic - etiology; Kidneys; Male; Medical prognosis; Medical sciences; Mutation; Nephrology. Urinary tract diseases; Pediatrics; Polycystic Kidney, Autosomal Recessive - complications; Polycystic Kidney, Autosomal Recessive - diagnostic imaging; Polycystic Kidney, Autosomal Recessive - mortality; Retrospective Studies; Tumors of the urinary system; Ultrasonography; Urogenital system
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s00467-002-1021-0

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.