Polycystic kidney disease, type 3

A rare genetic disorder affecting the kidneys

Polycystic kidney disease, type 3
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hypertension, kidney cysts, hematuria
Complications	Chronic kidney disease, kidney failure
Onset	Varies
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, imaging
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, dialysis, kidney transplant
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Polycystic kidney disease, type 3 (PKD3) is a rare genetic disorder characterized by the development of numerous cysts in the kidneys. It is a form of polycystic kidney disease (PKD), which is a group of genetic disorders that cause cyst formation in the kidneys, leading to kidney enlargement and loss of function over time.

Genetics

PKD3 is caused by mutations in specific genes that are inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene, inherited from either parent, is sufficient to cause the disorder. The exact gene responsible for PKD3 has not been definitively identified, distinguishing it from the more common types of PKD, such as autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).

Pathophysiology

The pathophysiology of PKD3 involves the formation of fluid-filled cysts in the renal tubules. These cysts gradually enlarge, leading to increased kidney size and disruption of normal kidney architecture. Over time, this can result in decreased kidney function and potentially lead to chronic kidney disease (CKD) or end-stage renal disease (ESRD).

Clinical Presentation

Patients with PKD3 may present with a variety of symptoms, including:

• Hypertension (high blood pressure)
• Hematuria (blood in the urine)
• Flank pain
• Recurrent urinary tract infections
• Kidney stones

The severity and onset of symptoms can vary widely among individuals.

Diagnosis

Diagnosis of PKD3 typically involves a combination of:

• Family history assessment
• Imaging studies such as ultrasound, CT scan, or MRI to visualize kidney cysts
• Genetic testing to identify mutations associated with PKD

Management

There is currently no cure for PKD3, and treatment focuses on managing symptoms and complications. This may include:

• Blood pressure control with antihypertensive medications
• Pain management
• Treatment of urinary tract infections
• Monitoring and management of kidney function

In advanced cases, patients may require dialysis or a kidney transplant.

Prognosis

The prognosis for individuals with PKD3 varies depending on the severity of the disease and the presence of complications. Regular monitoring and management of symptoms can help improve quality of life and delay the progression to kidney failure.

Also see

• Polycystic kidney disease
• Autosomal dominant polycystic kidney disease
• Autosomal recessive polycystic kidney disease
• Chronic kidney disease
• End-stage renal disease