ADPKD
Pronunciation: A-D-P-K-D
Also written as: ADPKD — Autosomal Dominant Polycystic Kidney Disease
An inherited disorder causing progressive cyst formation in kidneys, though rarely symptomatic in children.
Full Definition
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney disorder, characterized by the progressive development of fluid-filled cysts in both kidneys. While typically presenting in adulthood, ADPKD can occasionally manifest in childhood with enlarged kidneys, hypertension, or hematuria. The condition is caused by mutations in the PKD1 or PKD2 genes and follows an autosomal dominant inheritance pattern. In pediatric nephrology, early detection through family screening allows for monitoring and early intervention for complications such as hypertension.
Usage
Usage note: Distinguish from ARPKD (autosomal recessive form) which presents in infancy.
In Context
- "Family history revealed ADPKD in multiple generations, prompting genetic screening." — Genetic counseling report
- "The adolescent with ADPKD developed hypertension requiring antihypertensive therapy." — Pediatric nephrology follow-up