Paediatric cystic renal disease with an autosomal recessive inheritance pattern

Aetiology

• Affects young children
• Several subtypes all occurring in childhood - perinatal, neonatal, infantile and juvenile
• The abnormal gene is PKHD-1 which codes for fibrocystin
  • Found on chromosome 6

Pathophysiology

• The early forms are usually fatal
• Infantile and juvenile sufferers may survive but often go on to develop liver disease - cysts and congenital hepatic fibrosis
• The kidneys are usually of normal size and still have a smooth outside
• Renal involvement is bilateral and symmetrical
• Urinary tract is generally normal
• Histologically cysts are seen as appearing from the collecting duct system
• Slow decline in GFR - less than 1/3 reach dialysis

Clinical features

• Presentation varies and depends on the renal/liver lesions
• Kidneys always palpable
• Hypertension
• Recurrent UTIs

Investigations

• Imaging: USS, MRI