Polycystic kidney disease, type 2

A genetic disorder characterized by the growth of numerous cysts in the kidneys

Polycystic kidney disease, type 2
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	High blood pressure, back or side pain, headache, blood in urine
Complications	Kidney failure, liver cysts, aneurysms
Onset	Adulthood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the PKD2 gene
Risks	Family history
Diagnosis	Ultrasound, CT scan, MRI
Differential diagnosis	N/A
Prevention	N/A
Treatment	Blood pressure control, pain management, dialysis, kidney transplant
Medication	N/A
Prognosis	N/A
Frequency	Less common than type 1
Deaths	N/A

Polycystic kidney disease, type 2 (PKD2) is a form of autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the development of numerous fluid-filled cysts in the kidneys. Unlike Polycystic kidney disease, type 1, which is caused by mutations in the PKD1 gene, PKD2 is caused by mutations in the PKD2 gene. This condition is part of a group of disorders known as ciliopathies, which are caused by defects in the function of cilia, hair-like structures on the surface of cells.

Genetics

PKD2 is inherited in an autosomal dominant pattern, meaning that a mutation in just one of the two copies of the PKD2 gene is sufficient to cause the disorder. The PKD2 gene is located on chromosome 4 and encodes for polycystin-2, a protein involved in the regulation of calcium channels in kidney cells. Mutations in this gene disrupt normal kidney function, leading to cyst formation.

Clinical Presentation

Individuals with PKD2 typically present with symptoms later in life compared to those with PKD1. Common symptoms include:

• High blood pressure
• Back or side pain
• Headaches
• Blood in the urine (hematuria)

Complications can include:

• Chronic kidney disease and eventual kidney failure
• Cysts in the liver and other organs
• Intracranial aneurysms

Diagnosis

Diagnosis of PKD2 is often made through imaging studies such as ultrasound, CT scan, or MRI, which can reveal the presence of kidney cysts. Genetic testing can confirm mutations in the PKD2 gene.

Management

There is currently no cure for PKD2, but management focuses on controlling symptoms and slowing disease progression. Treatment options include:

• Blood pressure control with medications such as ACE inhibitors or angiotensin receptor blockers
• Pain management
• Dialysis or kidney transplantation in cases of kidney failure

Prognosis

The progression of PKD2 is generally slower than PKD1, with patients often maintaining kidney function until later in life. However, the risk of complications such as hypertension and kidney failure remains significant.

Also see

• Polycystic kidney disease
• Autosomal dominant polycystic kidney disease
• Ciliopathy
• Chronic kidney disease