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Autosomal Recessive Polycystic Kidney Disease

Definition

Autosomal recessive polycystic kidney disease (ARPKD) is a polycystic kidney disease and liver fibrosis with variable manifestations in newborns, children and adolescents (Avner & Sweeney, 2006) (Hermanns et al., 2003).

Epidemiology

Incidence 1:20.000 to 1:40.000

Etiology

Autosomal recessive trait, gene defect is on chromosome 6: mutations of the gene PKHD1, which codes for a protein called fibrocystin. Fibrocystin is involved in tubulogenesis and duct-lumen architecture.

Pathology of autosomal recessive polycystic kidney disease

Kidneys:

Bilaterally enlarged kidneys with preserved renal shape. Fusiform cystic dilatation of the collecting ducts (diameter 2 mm with progredient dilatation later in the course of the disease).

Liver:

Periportal fibrosis of the liver. The later the manifestation of the disease, the more severe the liver involvement.

Signs and Symptoms

The symptoms and prognosis of autosomal recessive polycystic kidney disease differ with the age of the clinical manifestation.

Onset at birth:

Kidney enlargement causes a large abdominal tumor with respiratory insufficiency. In 20–30%, death occurs within months due to respiratory or kidney failure.

Onset after 6th month of life:

End-stage kidney disease as a child or young adult, portal hypertension due to liver fibrosis.

Diagnostic Workup

Family history:

Covering at least three generations.

Genetic evaluation:

Mutations of the gene PKHD1.

Renal Ultrasound:

Renal ultrasound shows enlarged kidneys; this may be already detectable in fetal examinations. Hyperechogenic renal medulla, high-resolution ultrasound reveals microcysts. Larger cysts show up much later in the course of the disease.

MRI with MR cholangiography:

MRI shows enlarged kidneys, darker than usual on T1 and brighter than average on T2 weighted images. MR cholangiography reveals intrahepatic biliary ductal dilatation.

Intravenous urography:

Late films show enlarged kidneys with contrast media in the dilated collecting ducts. Intravenous urography is a historic examination, replaced by MRI.

Liver biopsy:

A liver biopsy is sometimes necessary in uncertain cases.

Treatment of Autosomal Recessive Polycystic Kidney Disease

• In the first days: treatment of respiratory insufficiency
• Symptomatic treatment of hypertension, kidney and liver insufficiency
• Treatment of end-stage renal disease with peritoneal dialysis or hemodialysis
• In severe portal hypertension: splenorenal shunt or liver transplantation
• Hemodialysis
• Kidney (and liver) transplantation

Prognosis

50% of affected children die within the first days of life. Of the children who survive the neonatal period, 50–80% will become older than ten years. Siblings of affected children have a risk of 25% for autosomal recessive polycystic kidney disease.

References

  Deutsche Version: Autosomal rezessive polyzystische Nierenerkrankung (ARPKD)