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Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors
S Roy1, M J Dillon, R S Trompeter
1Renal Unit, Great Ormond Street Hospital for Children, London, UK.
Insights
Autosomal recessive polycystic kidney disease (ARPKD) in children has a better prognosis than previously thought if they survive infancy. Early management of hypertension and portal hypertension is crucial for long-term survival.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Hepatology
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder leading to renal and hepatic dysfunction in children.
- The long-term clinical outcomes and survival rates for pediatric ARPKD patients require further elucidation.
Purpose of the Study:
- To describe the clinical outcomes and survival rates of children diagnosed with ARPKD.
- To evaluate the long-term prognosis, including renal survival, need for antihypertensive treatment, and complications like gastro-oesophageal varices.
Main Methods:
- Retrospective analysis of clinical data for 52 children diagnosed with ARPKD between 1950 and 1993.
- Life-table analysis was employed to determine actuarial renal survival and the probability of requiring antihypertensive treatment.
- Patient records were reviewed for complications such as gastro-oesophageal varices and hypersplenism.
Main Results:
- Of 52 children, 23 are alive, 24 deceased, and 5 lost to follow-up. One patient required dialysis, and 7 underwent transplantation.
- Actuarial renal survival was 86% at 1 year and 67% at 15 years for patients surviving the first month.
- Antihypertensive treatment was needed by 39% at 1 year and 60% by 15 years of age. Gastro-oesophageal varices occurred in 8 patients, preceded by hypersplenism in 6.
Conclusions:
- Children with ARPKD who survive the neonatal period have a relatively favorable prognosis.
- Early detection and management of systemic and portal hypertension are critical for improving long-term outcomes in pediatric ARPKD.
- The study highlights the importance of monitoring for complications like gastro-oesophageal varices in this patient population.
Abstract:
Autosomal recessive polycystic kidney disease causes renal and hepatic dysfunction in childhood. We describe the clinical outcome of 52 children with this diagnosis born between 1950 and 1993. Currently 23 are alive, 24 dead and 5 have been lost to follow-up; 1 has been dialysed and 7 transplanted. Life-table analysis of the patients surviving the 1st month of life revealed an actuarial renal survival of 86% at 1 year and 67% at 15 years. The probability of requiring anti-hypertensive treatment was 39% at 1 year and 60% at 15 years of age. Bleeding from gastro-oesophageal varices occurred in 8 patients at a mean age of 12.5 years, and was preceded by haematological evidence of hypersplenism in 6 of them. The study indicates a relatively good prognosis for patients with this condition who survive the neonatal period and emphasises the importance of early detection and appropriate management of systemic and portal hypertension.