Polycystic kidney disease

Polycystic kidney disease is a group of inherited disorders in which kidney cysts grow and can enlarge the kidneys, damage surrounding tissue, and impair kidney function.

Polycystin: Polycystins are proteins encoded by PKD1 and PKD2 that help kidney cells sense and respond to their environment. Defects in these proteins drive most cases of autosomal dominant disease.
Autosomal dominant polycystic kidney disease: Autosomal dominant polycystic kidney disease is an inherited disorder, usually caused by PKD1 or PKD2 variants, that forms kidney and other-organ cysts. It is the common adult-onset form within the broader disease group.
Ultrasonography: Ultrasonography uses high-frequency sound waves to create images of structures inside the body. It can detect characteristic kidney cysts without ionizing radiation.
Hypertension: Hypertension is persistently elevated blood pressure that increases the risk of cardiovascular and kidney damage. It commonly accompanies kidney cyst growth and can accelerate kidney injury.
Victor McKusick: Victor McKusick was an American physician and geneticist who helped establish medical genetics as a field. His clinical studies clarified the inherited nature and family patterns of dominant kidney disease.
Primary cilium: A primary cilium is a hairlike projection from a cell that detects signals in its surroundings. Polycystin signaling at cilia links inherited mutations to abnormal kidney-cell behavior.
Autosomal recessive polycystic kidney disease: Autosomal recessive polycystic kidney disease is a rare inherited disorder, usually caused by PKHD1 variants, that often affects infants and children. Its recessive inheritance and frequent early presentation distinguish it from the dominant form.
Magnetic resonance imaging: Magnetic resonance imaging uses magnetic fields and radio waves to produce detailed images of the body. Kidney volume on MRI helps assess disease burden and progression.
Intracranial aneurysm: An intracranial aneurysm is a localized bulge in the wall of an artery inside the skull. Its increased prevalence in some affected families makes risk assessment relevant.
PKD1 gene discovery: The discovery of PKD1 identified a major gene responsible for autosomal dominant polycystic kidney disease. It connected a familial clinical syndrome to a specific molecular cause.

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