Polycystic kidney disease, infantile type

Polycystic Kidney Disease, Infantile Type
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Enlarged kidneys, hypertension, renal insufficiency
Complications	Renal failure, liver fibrosis
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Ultrasound, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, dialysis, kidney transplant
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Polycystic Kidney Disease, Infantile Type (also known as Autosomal Recessive Polycystic Kidney Disease, or ARPKD) is a rare genetic disorder characterized by the development of numerous cysts in the kidneys and other organs, primarily affecting infants and young children.

Etiology

Polycystic Kidney Disease, Infantile Type is caused by mutations in the PKHD1 gene, which is located on chromosome 6. This gene encodes for the protein fibrocystin/polyductin, which is involved in the development and function of the renal tubules and bile ducts. The disease follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Pathophysiology

The mutation in the PKHD1 gene leads to the abnormal development of the renal tubules and bile ducts. This results in the formation of cysts in the kidneys and liver. The cysts in the kidneys can lead to nephromegaly (enlarged kidneys), hypertension, and progressive renal insufficiency. In the liver, the condition can cause hepatic fibrosis and portal hypertension.

Clinical Presentation

Infants with Polycystic Kidney Disease, Infantile Type often present with:

• Enlarged kidneys detectable by ultrasound
• Hypertension
• Oligohydramnios (low amniotic fluid) during pregnancy
• Respiratory distress due to pulmonary hypoplasia
• Renal insufficiency
• Hepatomegaly and signs of liver dysfunction

Diagnosis

Diagnosis of ARPKD is typically made through:

• Prenatal or postnatal ultrasound showing enlarged, echogenic kidneys
• Genetic testing to identify mutations in the PKHD1 gene
• Family history and clinical examination

Management

There is no cure for Polycystic Kidney Disease, Infantile Type, and management focuses on supportive care and treatment of complications:

• Blood pressure control with antihypertensive medications
• Monitoring and management of renal function
• Dialysis for end-stage renal disease
• Kidney transplantation as a definitive treatment for renal failure
• Management of liver complications, including portal hypertension

Prognosis

The prognosis for individuals with ARPKD varies. Some infants may experience severe complications early in life, while others may have a more gradual progression of the disease. Early diagnosis and management of complications can improve outcomes.

See Also

• Autosomal Dominant Polycystic Kidney Disease
• Nephrology
• Genetic disorders

External Links

• National Kidney Foundation
• National Organization for Rare Disorders