Cystic kidney disease

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Cystic kidney disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hypertension, hematuria, flank pain, urinary tract infection
Complications	Chronic kidney disease, end-stage renal disease, renal failure
Onset	Varies by type (e.g., autosomal dominant polycystic kidney disease typically presents in adulthood)
Duration	Lifelong
Types	Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, simple renal cysts, medullary sponge kidney
Causes	Genetic mutations, congenital
Risks	Family history, genetic predisposition
Diagnosis	Ultrasound, CT scan, MRI
Differential diagnosis	Renal cell carcinoma, hydronephrosis, pyelonephritis
Prevention	N/A
Treatment	Blood pressure control, dialysis, kidney transplantation
Medication	Antihypertensives, pain management
Prognosis	Variable, depends on type and severity
Frequency	Common (varies by type)
Deaths	N/A

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Autosomal recessive polycystic kidney disease

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Cystic kidney disease refers to a group of disorders characterized by the presence of multiple cysts in the kidneys. These cysts can interfere with kidney function and may lead to chronic kidney disease or kidney failure. The most common forms of cystic kidney disease include polycystic kidney disease (PKD) and medullary cystic kidney disease (MCKD).

Types of Cystic Kidney Disease

Polycystic Kidney Disease (PKD)

Polycystic kidney disease is a genetic disorder that causes numerous cysts to develop in the kidneys. There are two main types:

• Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is the most common form and usually manifests in adulthood. It is caused by mutations in the PKD1 or PKD2 genes.
• Autosomal Recessive Polycystic Kidney Disease (ARPKD): This form is less common and typically presents in infancy or early childhood. It is caused by mutations in the PKHD1 gene.

Medullary Cystic Kidney Disease (MCKD)

Medullary cystic kidney disease is a rare inherited condition that leads to the formation of cysts in the inner part of the kidney, known as the medulla. It is often associated with nephronophthisis, a similar condition that affects children and young adults.

Symptoms

The symptoms of cystic kidney disease can vary depending on the type and severity of the condition. Common symptoms include:

• High blood pressure
• Blood in the urine
• Frequent urinary tract infections
• Pain in the back or sides
• Kidney stones
• Progressive loss of kidney function

Diagnosis

Diagnosis of cystic kidney disease typically involves a combination of:

• Ultrasound
• Computed tomography (CT) scan
• Magnetic resonance imaging (MRI)
• Genetic testing

Treatment

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

• Medications to control blood pressure
• Pain management
• Dialysis or kidney transplant in cases of kidney failure
• Antibiotics for urinary tract infections

Prognosis

The prognosis for individuals with cystic kidney disease varies. Some people may experience only mild symptoms, while others may develop severe complications such as end-stage renal disease (ESRD). Early diagnosis and management are crucial for improving outcomes.

See also

• Kidney
• Chronic kidney disease
• Kidney failure
• Polycystic kidney disease
• Medullary cystic kidney disease
• Nephronophthisis
• Dialysis
• Kidney transplant

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