Internal Diseases and Therapy · MU Sofia

119. Polycystic Renal disease

Covers polycystic kidney disease as a group within cystic kidney disorders, contrasting it with simple cysts. It takes autosomal dominant disease first, covering its genetic basis, liver and cardiovascular involvement, clinical signs, diagnosis by ultrasound, and treatment including blood pressure targets and management of cyst haemorrhage. It then describes the childhood-onset autosomal recessive form, its PKHD1 link, presentation in infancy, and management. Two ultrasound and nephrectomy pictures accompany the text.

Inside: 1 section · 2 labelled pictures · 16 flashcards · 3 min

Topic 120 of 139 in the MU Sofia syllabus for Internal Diseases and Therapy (Medicine, Years 4 and 5). The free AceMed note covers it in 1 section, about 503 words (3 min of reading), with 16 flashcards.

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  1. Adult polycystic renal disease

Adult polycystic renal disease

Cystic kidney diseases are a heterogenous group of hereditary and acquired disorders characterized by renal cysts. Adult polycystic renal disease is actually a group within these disorders, but we will take an overview of all renal cysts in this question.

Individual single cysts without additional pathology are termed simple cysts and are very common. Polycystic kidney disease by contrast is a clinically important group of disorders characterized by bilateral renal cysts. Let's take a look at some polycystic kidney diseases:

Autosomal dominant polycystic kidney disease (ADPKD)

  • Cyst formation in multiple organs including kidneys and others (esp liver; CVS: berry aneurysms, mitral valve prolapse)
  • Renal cysts can arise from any portion of the nephron
  • Cyst expansion and fibrosis cause compression and obstruction of normal tubules causing upstream tubular dilation and kidney enlargement
  • Caused by PKD1 or PKD2 mutation
  • Manifestations are hiligh varied, PKD2 mutation is milder. Bth have 100% penetration by age of 90, symptoms mostly develop by 4th decade of life. Renomegaly and nocturia are key clinical signs, hematuria is typical although proteinuria less so. Cysts increase the risk of stones and UTIs. Cardiovascular disease also commonly appears, manifests as biventricular diastolic dysfunction even in young patients with no comorbidities.
  • Arterial hypertension is an early sign of cyst formation
  • Diagnosis is done through ultrasound detection of cysts and renomegaly at a relatively young age. Family history is also obviously key
  • Treatment
  • Effective treatment for hypertension required (<120/80 mm/Hg) (ACEI prefered)
  • Treat UTIs
  • Cyst hemorrhage and rupture (presents with pain and hematuria) is managed conservatively with rest and analgesics (avoid NSAIDs, use acetaminophen 500mg)
  • Nephrectomy is rarely indicated
  • Prognosis can eventually see Chronic Kidney Insufficiency and failure, especially in PKD1 mutation.

Renal ultrasound in advanced polycystic kidney disease showing an enlarged kidney filled with multiple black (fluid-filled) cysts.

Image: “Advanced polycystic kidney disease with multiple cysts” by Kristoffer Lindskov Hansen, Michael Bachmann Nielsen and Caroline Ewertsen, CC BY 4.0, via Wikimedia Commons.

Cut surface of a nephrectomy specimen in adult (autosomal dominant) polycystic kidney disease: a greatly enlarged kidney replaced by numerous cysts of varying size, some filled with old blood.

Image: “Adult Polycystic Kidney” by Ed Uthman from Houston, TX, USA, CC BY 2.0, via Wikimedia Commons.

Autosomal recessive polycystic kidney disease

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