Polycystic kidney disease, recessive type

Autosomal Recessive Polycystic Kidney Disease
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Enlarged kidneys, hypertension, renal failure
Complications	N/A
Onset	Infancy or early childhood
Duration	N/A
Types	N/A
Causes	Genetic mutation in the PKHD1 gene
Risks	N/A
Diagnosis	Ultrasound, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care, dialysis, kidney transplant
Medication	N/A
Prognosis	Variable, often severe
Frequency	N/A
Deaths	N/A

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder characterized by the development of numerous cysts in the kidneys and liver. It is one of the two major forms of polycystic kidney disease, the other being autosomal dominant polycystic kidney disease (ADPKD). ARPKD is caused by mutations in the PKHD1 gene and is inherited in an autosomal recessive pattern.

Pathophysiology

ARPKD is caused by mutations in the PKHD1 gene, which encodes the protein fibrocystin/polyductin. This protein is involved in the normal development and function of the renal tubules and bile ducts. Mutations lead to the formation of cysts in the collecting ducts of the kidneys and the bile ducts of the liver. The cysts cause the kidneys to become enlarged and can lead to renal failure.

Clinical Presentation

The clinical presentation of ARPKD can vary, but it often presents in infancy or early childhood. Common symptoms include:

• Enlarged kidneys (nephromegaly)
• Hypertension
• Renal failure
• Hepatic fibrosis

In severe cases, ARPKD can lead to pulmonary hypoplasia due to oligohydramnios, which is a deficiency of amniotic fluid.

Diagnosis

Diagnosis of ARPKD is typically made through:

• Ultrasound: This imaging technique can reveal enlarged kidneys with cysts.
• Genetic testing: Identification of mutations in the PKHD1 gene confirms the diagnosis.

Management

There is no cure for ARPKD, and treatment is primarily supportive. Management strategies include:

• Control of hypertension
• Management of renal failure, which may require dialysis or kidney transplantation
• Monitoring and treatment of liver complications

Prognosis

The prognosis for individuals with ARPKD varies. Some children may experience severe complications early in life, while others may have a milder course. The severity of kidney and liver involvement largely determines the outcome.

Genetics

ARPKD is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically carriers, each having one copy of the mutated gene.

Also see

• Polycystic kidney disease
• Autosomal dominant polycystic kidney disease
• Nephrology
• Genetic disorders