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Published on: June 23, 2015
Autosomal dominant polycystic kidney disease in children
Kiran Chandra Patro1, R Dilip1, S Ramakrishnan1
1Department of Nephrology, NU Hospitals, Bengaluru, Karnataka, India.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) is rare in children, often detected during family screenings. This report details two pediatric cases, highlighting the need for early detection strategies for this genetic kidney disorder.
Area of Science:
- Nephrology
- Pediatric Genetics
- Rare Diseases
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder.
- While typically diagnosed in adulthood, pediatric ADPKD is less understood.
- Early-onset ADPKD presentation in children remains unclear.
Observation:
- Pediatric ADPKD cases are infrequently identified.
- Diagnosis often occurs through screening of individuals with a significant family history of ADPKD.
- Symptomatic presentation in children is less common.
Findings:
- This study presents two pediatric cases of autosomal dominant polycystic kidney disease.
- The cases contribute to understanding the rare early-onset manifestations of ADPKD.
- Detailed clinical information on these pediatric patients is provided.
Implications:
- Highlights the importance of considering ADPKD in pediatric patients, especially with a family history.
- Suggests potential for earlier diagnostic approaches in at-risk children.
- Contributes valuable data to the limited knowledge base of childhood ADPKD.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) presenting in adults is well documented, but the presentation in children is uncommon and is unclear why the disease presents early. Cases in children are identified usually while screening those with a strong family history and less commonly when symptomatic. We present here two children with ADPKD.
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