Related Experiment Videos
Autosomal recessive polycystic kidney disease
1Hospital for Sick Children, London, UK.
Insights
Autosomal recessive polycystic kidney disease (ARPCKD) shows an improved prognosis. Survival rates are higher than previously assumed, with significant improvements noted in long-term outcomes for affected children.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Medical Genetics
Background:
- Autosomal recessive polycystic kidney disease (ARPCKD) is a severe genetic disorder.
- Historically, ARPCKD has been associated with a poor prognosis and high infant mortality.
- Understanding the clinical spectrum and outcomes is crucial for patient management.
Purpose of the Study:
- To review the clinical features and outcomes of patients with ARPCKD.
- To determine survival rates and identify factors influencing prognosis.
- To assess the current outlook for ARPCKD compared to historical data.
Main Methods:
- Retrospective review of 55 clinical cases of ARPCKD.
- Analysis of patient demographics, clinical presentation, and treatment interventions.
- Life-table survival analysis from birth and from one year of age.
Main Results:
- 45% of patients presented under 1 month of age; hyponatremia was common in infants.
- Hypertension (65%) and splenomegaly (47%) were significant clinical findings.
- Life-table survival rates: 86% at 3 months, 79% at 1 year, 51% at 10 years, and 46% at 15 years from birth.
Conclusions:
- The prognosis for ARPCKD has improved, contrary to previous assumptions.
- Survival rates are significantly better, especially for patients surviving the first year.
- Early presentation and specific clinical features like hyponatremia require close monitoring.
Abstract:
The clinical features of 55 cases of autosomal recessive polycystic kidney disease (ARPCKD) have been reviewed. Each had evidence of ARPCKD. The outcomes of 87% were known; 24 had died. Twenty-four of 31 were seen between 1980 and 1986; 7 could not be traced. Forty-five percent presented under 1 month; 38% between 1 month and 1 year; and 9 cases over 1 year. Hyponatraemia occurred in 15 out of 19 aged less than 3 months; hypertension occurred in 65%; splenomegaly in 47% of those surviving more than 3 months. Portocaval shunts were done in 5 aged 2-12 years. Thirteen died of renal failure, 6 under 1 year, and 7 between 1 year and 13 years. Life-table survival rates calculated from birth revealed that 86% were alive at 3 months, 79% at 1 year, 51% at 10 years, and 46% at 15 years. Calculations based on patients who survived to 1 year of age showed that 82% were alive at 10 years and 79% at 15 years. These results reveal an improved prognosis for a condition once assumed to be fatal.