polycystic kidney disease

Full Definition

Polycystic kidney disease (PKD) encompasses genetic disorders characterized by the development of multiple fluid-filled cysts within the kidneys. In pediatric patients, autosomal recessive PKD typically presents in infancy with enlarged kidneys and potential respiratory compromise, while autosomal dominant PKD usually manifests later in life. Both forms can lead to progressive chronic kidney disease, hypertension, and may require renal replacement therapy.

Usage

Usage note: Distinguish between autosomal recessive and autosomal dominant forms.

In Context

• "Prenatal ultrasound suggested autosomal recessive polycystic kidney disease with enlarged echogenic kidneys." — Prenatal consultation
• "Family history of polycystic kidney disease prompted genetic counseling and screening." — Genetic assessment