Polycystic kidney disease, type 1

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

Polycystic kidney disease, type 1
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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	Usually between 30 and 40 years of age
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the PKD1 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	1 in 400 to 1,000 people
Deaths	N/A

Polycystic kidney disease, type 1 (PKD1) is a genetic disorder characterized by the development of numerous fluid-filled cysts in the kidneys. It is the most common form of autosomal dominant polycystic kidney disease (ADPKD), which is a hereditary condition that can lead to chronic kidney disease and kidney failure.

Genetics

PKD1 is caused by mutations in the PKD1 gene, which is located on chromosome 16. This gene encodes for polycystin-1, a protein that plays a crucial role in the normal development and function of renal tubules. Mutations in PKD1 disrupt the function of polycystin-1, leading to the formation of cysts.

The inheritance pattern of PKD1 is autosomal dominant, meaning that an affected individual has a 50% chance of passing the mutated gene to each offspring. This form of inheritance explains why PKD1 often appears in multiple generations of a family.

Clinical Presentation

Symptoms of PKD1 typically begin to appear between the ages of 30 and 40, although cysts can be present from birth. Common symptoms include:

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

As the disease progresses, the cysts enlarge and multiply, leading to increased kidney size and reduced kidney function. This can eventually result in chronic kidney disease and end-stage renal disease (ESRD).

Diagnosis

Diagnosis of PKD1 is primarily based on imaging studies. An ultrasound is often the first test used to detect kidney cysts. More detailed imaging, such as a CT scan or MRI, can provide additional information about the size and number of cysts.

Genetic testing can confirm the diagnosis by identifying mutations in the PKD1 gene, especially in cases where the family history is unclear.

Management

There is currently no cure for PKD1, but treatment focuses on managing symptoms and slowing disease progression. Key management strategies include:

• Controlling high blood pressure with medications such as ACE inhibitors or angiotensin II receptor blockers
• Pain management with analgesics
• Monitoring and treating urinary tract infections
• Dialysis or kidney transplantation in cases of kidney failure

Lifestyle modifications, such as maintaining a healthy diet, regular exercise, and avoiding smoking, can also help manage the condition.

Prognosis

The progression of PKD1 varies among individuals. Some may experience mild symptoms and maintain normal kidney function for many years, while others may develop ESRD by their 50s or 60s. Early detection and management of hypertension and other complications can improve outcomes.

Also see

• Autosomal dominant polycystic kidney disease
• Chronic kidney disease
• Kidney transplantation
• Genetic testing