Polycystic kidney disease, adult type

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

Polycystic kidney disease, adult type
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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	Chronic kidney disease, kidney failure
Onset	Adulthood
Duration	Long-term
Types	N/A
Causes	Genetic mutation
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	1 in 400 to 1 in 1000 people
Deaths	N/A

Polycystic kidney disease, adult type, also known as autosomal dominant polycystic kidney disease (ADPKD), is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts are noncancerous round sacs containing fluid. The cysts can profoundly enlarge the kidneys while replacing much of their normal structure, resulting in reduced kidney function and leading to kidney failure.

Genetics

ADPKD is caused by mutations in the PKD1 or PKD2 genes. The PKD1 gene is located on chromosome 16 and accounts for approximately 85% of cases, while the PKD2 gene is located on chromosome 4 and accounts for about 15% of cases. The condition is inherited in an autosomal dominant pattern, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

Symptoms of ADPKD typically begin in adulthood, between the ages of 30 and 40. Common symptoms include:

• High blood pressure
• Back or side pain
• Headache
• Blood in the urine (hematuria)
• Kidney stones
• Urinary tract infections

Diagnosis

ADPKD is often diagnosed using imaging techniques such as ultrasound, CT scan, or MRI. These imaging tests can detect the presence of cysts in the kidneys. Genetic testing can also be used to confirm the diagnosis by identifying mutations in the PKD1 or PKD2 genes.

Treatment

There is no cure for ADPKD, but treatment focuses on managing symptoms and slowing the progression of the disease. Treatment options include:

• Controlling high blood pressure with medications such as ACE inhibitors or angiotensin II receptor blockers
• Pain management with over-the-counter pain relievers or prescription medications
• Treating urinary tract infections promptly with antibiotics
• Dialysis or kidney transplant in cases of kidney failure

Prognosis

The progression of ADPKD varies among individuals. Some people may experience only mild symptoms, while others may develop severe complications such as chronic kidney disease or kidney failure. Regular monitoring and management of symptoms can help improve quality of life and delay the progression of the disease.

Also see

• Chronic kidney disease
• Kidney transplant
• Dialysis
• Hypertension