Adult polycystic kidney disease

external

• Synonyms

  • ADPCKD
  • Autosomal dominant polycystic kidney disease
  • APCKD

• Causes

  • PKD1 gene mutation
  • Tuberous sclerosis

• Effects

  • Renal cyst
  • Ballotable kidney0.0%
  • Intracystic haemorrhage
  • Haematuria40.0%
  • Hypertension50.0%
  • Liver cyst70.0%
  • Pancreatic Cyst10.0%
  • Berry aneurysm25.0%
  • Subarachnoid haemorrhage10.0%
  • Valvular heart disease30.0%
  • Inappropriately raised erythropoietin0.0%
  • Renal fluid retention
  • Sterile pyuria
  • Chronic renal failure

• Parents

  • Autosomal dominant disorder
  • Disease due to genetic mutation
  • Genitourinary malformation

• Treatments

  • Antihypertensive drug
  • Cyst aspiration

• Description

  • "occurs in about 1/1000 people. By age 60
  • 60% require dialysis or transplantation. DD: Von Hippel Lindau a familial cancer syndrome
  • characterized by retinal
  • spinal
  • and cerebellar haemangioblastomas
  • renalcell carcinomas
  • and phaeochromocytomas Genetic counseling for 1st-degree relatives of patients with ADPKD
  • "