Autosomal dominant polycystic kidney disease

An inherited disorder in which fluid-filled cysts develop in the kidneys, often causing kidney enlargement, hypertension, and progressive loss of kidney function.

PKD1: A gene encoding polycystin-1; pathogenic variants account for most cases of autosomal dominant polycystic kidney disease. Most disease-causing variants affect this gene, often producing earlier or more severe disease.
Autosomal dominant inheritance: An inheritance pattern in which one altered copy of a gene can cause a trait or disorder. Affected individuals typically have a one-in-two chance of passing a disease-causing variant to each child.
Tolvaptan: A vasopressin V2-receptor antagonist used to slow kidney-function decline in selected adults with rapidly progressing disease. It is the principal disease-modifying drug used for eligible patients at risk of rapid progression.
Chronic kidney disease: A long-lasting reduction in kidney structure or function that can impair waste removal and fluid balance. Progressive cyst growth can lead to chronic kidney disease and eventual kidney failure.
Vasopressin: A hormone that regulates water balance and can stimulate cyclic AMP signaling in kidney cells. Its signaling promotes cyst growth, making it a target of tolvaptan treatment.
PKD2: A gene encoding polycystin-2; pathogenic variants cause autosomal dominant polycystic kidney disease. Variants here generally produce later kidney failure than PKD1 variants.
Nephron: The microscopic functional unit of the kidney, made of a blood-filtering corpuscle and a tubule. Cysts develop from kidney tubule segments, expanding structures built from nephron tissue.
Ultrasonography: An imaging method that uses high-frequency sound waves to produce images of internal structures. Kidney ultrasound can identify cyst patterns used to diagnose affected relatives.
Hypertension: Persistently elevated pressure in the arteries, diagnosed using standardized blood-pressure measurements. High blood pressure often develops early and adds cardiovascular and kidney risk.
AMP-activated protein kinase: A cellular energy sensor that regulates metabolism and influences growth-related signaling pathways. Researchers study whether activating this pathway can restrain cyst growth.

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Polycystic kidney diseaseBroader topic: It is the common adult-onset form within the broader disease group.