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Characteristics of very early onset autosomal dominant polycystic kidney disease
G M Fick1, A M Johnson, J D Strain
1Department of Medicine, University of Colorado Health Sciences Center, Denver 80262.
Insights
Early-onset autosomal dominant polycystic kidney disease (ADPKD) in children is often diagnosed prenatally or in infancy. Risk factors include maternal ADPKD, affected siblings, and new mutations, with a better-than-expected outcome.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder.
- Early-onset ADPKD presents significant diagnostic and management challenges.
Purpose of the Study:
- To describe the clinical presentation, diagnosis, and outcomes of children with very early-onset ADPKD.
- To identify potential risk factors for early-onset ADPKD.
Main Methods:
- Retrospective case series of eleven children from eight families diagnosed with ADPKD in utero or within the first year of life.
- Renal ultrasonography, creatinine clearance, and renal concentrating ability were assessed.
- Follow-up ranged from 3 to 15 years.
Main Results:
- Most diagnoses were incidental or due to family history; prenatal diagnosis occurred in 6/11 children.
- Females were disproportionately affected (8/11 children, all affected parents were mothers).
- Renal ultrasonography showed enlargement and increased echogenicity; 9/11 children were hypertensive, 2/11 developed end-stage renal disease (ESRD).
Conclusions:
- Early-onset ADPKD can be identified through various diagnostic pathways, including incidental findings.
- Risk factors include maternal ADPKD, affected siblings, and new mutations.
- Despite frequent complications, the long-term renal outcome in this cohort was better than previously reported.
Abstract:
Eleven children from eight families with autosomal dominant polycystic kidney disease who were diagnosed in utero (6 children) or in the first year of life (5 children) are reported here. Four children were evaluated for symptoms and three because of a sibling with very early onset disease. In three children, abnormal kidneys were found incidentally on a pregnancy screening ultrasound, and in only one child, the diagnosis was made by an ultrasound specifically directed at detecting polycystic kidney disease. Females were disproportionately represented among both the affected parents and offspring. Eight of the children were girls, and all affected parents were mothers. In three families, the parent's diagnosis was established only after the birth of the affected child. In two of these and in one other family, the mother's disease appeared to be the result of a new mutation. The most consistent renal ultrasonographic findings in the children were enlargement and increased echogenicity. On follow-up over 3 to 15 yr (mean, 6.8 yr) two children had ESRD and eight children had normal or nearly normal renal function as assessed by creatinine clearance. Renal concentrating ability was reduced in four children in whom it was measured. All children had bilateral renal cysts on follow-up, and nine children were hypertensive. Possible risk factors for early-onset disease identified in this study were an affected mother, an affected sibling, and an apparent parental new mutation. Symptoms and complications occurred frequently, but outcome was better than reported previously.