Polycystic kidney disease, infantile, type I

Polycystic Kidney Disease, Infantile, Type I (PKD1), also known as Autosomal Recessive Polycystic Kidney Disease (ARPKD), is a rare, genetic disorder characterized by the development of numerous cysts in the kidneys. This condition is part of a broader category of diseases known as cystic kidney diseases. ARPKD is distinguished by its mode of inheritance, which is autosomal recessive, meaning that a child must inherit a defective gene from both parents to be affected.

Overview

Polycystic Kidney Disease, Infantile, Type I affects the structure and function of the kidneys. The cysts, which are noncancerous round sacs containing fluid, replace much of the mass of the kidneys. This can lead to reduced kidney function and kidney failure. ARPKD can also affect other organs, particularly the liver, potentially leading to liver fibrosis and hypertension.

Symptoms

The symptoms of ARPKD can vary significantly from one individual to another. In some cases, symptoms begin in utero, while in others, they may not become apparent until after birth. Common symptoms include:

• High blood pressure
• Kidney failure
• Urinary tract infections
• Liver problems
• Breathing difficulties due to underdeveloped lungs in severe cases

Causes

ARPKD is caused by mutations in the PKHD1 gene, which provides instructions for making a protein that is thought to be necessary for normal kidney and liver development. The exact function of this protein, however, is not fully understood.

Diagnosis

Diagnosis of ARPKD often involves a combination of ultrasound imaging to detect cysts in the kidneys and genetic testing to identify mutations in the PKHD1 gene. Prenatal diagnosis is possible through ultrasound and genetic testing of fetal DNA.

Treatment

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

• Blood pressure medication
• Treatment for urinary tract infections
• Dialysis or kidney transplant in cases of kidney failure
• Liver transplant in cases of severe liver disease

Prognosis

The prognosis for individuals with ARPKD varies. With early and aggressive treatment, some individuals can lead relatively normal lives. However, the disease can be severe and potentially life-threatening, especially in infants.

Epidemiology

ARPKD is a rare condition, affecting approximately 1 in 20,000 to 40,000 live births worldwide. It accounts for a significant portion of childhood chronic kidney disease.

See Also

• Cystic Kidney Disease
• Kidney Transplant
• Liver Transplant
• Dialysis

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