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Polycystic kidney disease, adult type(PKD1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: PKD1; Polycystic kidney disease 1; POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; Polycystic Kidney Disease 1, Autosomal Dominant; Polycystic kidney disease 1, severe; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; Polycystic Kidney, Autosomal Dominant
Gene (location): PKD1 (16p13.3)
Monarch Initiative: MONDO:0008263
OMIM®: 173900

Disease characteristics

Excerpted from the GeneReview: Polycystic Kidney Disease, Autosomal Dominant
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations. [from GeneReviews]
Peter C Harris  |  Vicente E Torres   view full author information

Additional descriptions

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney Disease Also see polycystic kidney disease-2 (PKD2; 613095), caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666), caused by mutation in the GANAB gene (104160) on chromosome 11q13; PKD4 (263200), caused by mutation in the PKHD1 gene (606702) on chromosome 6p12; PKD5 (617610), caused by mutation in the DZIP1L gene (617570) on chromosome 3q22; PKD6 (618061), caused by mutation in the DNAJB11 gene (611341) on chromosome 3q27; and PKD7 (620056), caused by mutation in the ALG5 gene (604565) on chromosome 13q13.  http://www.omim.org/entry/173900
From MedlinePlus Genetics
Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Renal insufficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Hypertensive disorder
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Mitral regurgitation
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse
MedGen UID:
Concept ID:
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Cerebral berry aneurysm
MedGen UID:
Concept ID:
Pathologic Function
A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.
Colonic diverticula
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of multiple diverticula of the colon.
Hepatic cysts
MedGen UID:
Concept ID:
Disease or Syndrome
A cystic lesion located in the liver.

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