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 and Sweeney, 2006) (Hermanns et al, 2003).
Epidemiology
Incidence 1:20.000 to 1:40.000
Etiology
Autosomal recessive trait. The gene defect has been localized 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:
Large abdominal tumor through the kidney enlargement. Death occurs usually within 1–2 months due to respiratory failure or kidney failure .
Onset within the first month of life:
Death due to kidney failure within the first year of life.
Disease onset within the 3rd to 6 Month of life:
Wed chronic renal failure, portal hypertension due to liver fibrosis. Life expectancy sometimes over 10 years.Onset within the 1st to 5th year of age:
Severe portal hypertension and chronic (compensated) renal insufficiency.
Diagnostic Work-Up
Family history:
covering at least three generations.
Renal Ultrasound:
Renal ultrasound shows hyperechogenic enlarged kidneys, which may be already detectable in fetal examinations. Macroscopically visible cysts show up much later in the course of the disease.
Intravenous urography:
Enlarged kidneys, in delayed films you can see the contrast media in the dilated collecting ducts.
Liver biopsy:
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
- 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 10 years. Siblings of affected children have a risk of 25% for autosomal recessive polycystic kidney disease.
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References
- Avner, E. D. & Sweeney, W. E.
- Renal cystic disease: new insights for the clinician.
Pediatr Clin North Am, 2006, 53, 889-909, ix - Hermanns, B.; Alfer, J.; Fischedick, K.; Stojanovic-Dedic, A.; Rudnik-Schöneborn, S.; Büttner, R. & Zerres, K.
- [Pathology and genetic hereditary kidney cysts].
Pathologe, 2003, 24, 410-420.
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Deutsche Version: Autosomal rezessive polyzystische Nierenerkrankung (ARPKD)
Last update
Dr. med. Dirk Manski
man...@urologielehrbuch.de