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Late manifestation of autosomal-recessive polycystic kidney disease in two sisters
H P Neumann1, K Zerres, C L Fischer
1Medical Clinic, University of Freiburg, FRG.
American Journal of Nephrology
|January 1, 1988
Insights
This study details two siblings diagnosed with autosomal-recessive polycystic kidney disease (ARPKD) in late adolescence. It highlights clinical features, differential diagnosis from autosomal-dominant polycystic kidney disease (ADPKD), and implications for genetic counseling.
Area of Science:
- Nephrology
- Medical Genetics
Background:
- Autosomal-recessive polycystic kidney disease (ARPKD) is a severe genetic disorder typically presenting in infancy.
- Late-onset ARPKD is rare, posing diagnostic challenges, particularly in differentiating it from autosomal-dominant polycystic kidney disease (ADPKD).
Observation:
- The report focuses on two siblings diagnosed with ARPKD at ages 14 and 18 years.
- Clinical manifestations in these late-diagnosed cases are presented.
Findings:
- The study provides detailed clinical findings for these late-onset ARPKD cases.
- Differential diagnosis, specifically distinguishing ARPKD from ADPKD, is discussed based on observed clinical presentations.
Implications:
- The findings underscore the importance of considering ARPKD in adolescents and young adults with unexplained kidney disease.
- Genetic counseling strategies need to be adapted for families with potential late-onset ARPKD.
- Accurate diagnosis is crucial for appropriate management and family planning.
Abstract:
We report on 2 siblings with autosomal-recessive polycystic kidney disease, diagnosed at the ages of 14 and 18 years, respectively. Clinical findings and differential diagnosis, especially for autosomal-dominant polycystic kidney disease, are given. The consequences for genetic counselling are discussed.