Autosomal dominant polycystic kidney disease

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Autosomal dominant polycystic kidney disease
Diagnosis in short

Micrograph showing polycystic kidney disease in the context of autosomal dominant polycystic kidney disease. H&E stain.
LM cortical cysts lined by simple flattened epithelium, normal renal tubules interspersed between cysts or tubules as seen in end-stage kidney (thyroidization), +/-fibrosis (late-stage), +/-calcifications
Subtypes PKD1 gene associated, PKD2 gene associated
LM DDx acquired cystic renal disease
Molecular mutation in PKD1 gene or PKD2 gene
Gross enlarged kidney with "too many cysts to count"
Site kidney - see cystic kidney diseases
Associated Dx end-stage kidney, liver cysts; PKD1 associated: cerebral aneurysms; PKD2 associated: colonic diverticula, aortic aneurysm, mitral valve prolapse
Clinical history family member with polycystic kidney disease
Prevalence uncommon
Radiology polycystic kidneys
Prognosis progressive renal failure
Treatment +/-nephrectomy, dialysis, renal transplant

Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure.

Surgically removed to due to symptoms (mass effect); native nephrectomy often done concurrently with renal transplant.[1]

General

  • Incidence of renal cell carcinoma (RCC) is increased in ADPKD in relation to the general population; however, the increase may to be due to the higher incidence of RCC in patients with (advanced) chronic kidney disease rather than ADPKD.[2]
    • In a series of 510 patients evaluated clinically, 10 were found to have renal cell carcinoma. Eight of the ten were seen on imaging and two were detected by pathology.[2]
  • In a series 301 renal surgeries on 240 ADPKD patients, 16 malignant lesions were seen.[3]

Etiology

  • Mutation in PKD1 gene or PKD2 gene.
  • Is classified in a large group of diseases - ciliopathies.

PKD1 related disease:[4]

  • Encodes polycystin.
  • Death at ~53 years.
  • Associated with cerebral aneurysms.

PKD2 related disease:[4]

Liver cysts and PKD

General

Features:

  • Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:[5]
    • Age dependence:
      • 10-17% <40 years old have liver cysts.
      • 70-75% >60 years old have liver cysts.
    • Renal function:
    • Females more often affected.
  • Hepatic function usu. preserved.

Complications:[4]

  1. Infected cyst.
  2. Cholangiocarcinoma.

Microscopic

Features:

  • Von Meyenburg complexes:
    • Cluster of dilated ducts with "altered" bile.
    • Surrounded by collagenous stroma.

See: Medical liver disease.

Gross

Features:

  • Thin walled cysts.

Microscopic

Features:[6]

  • Cortical cysts lined by simple flattened epithelium.
  • Normal renal tubules interspersed between cysts or tubules as seen in end-stage kidney (thyroidization).
  • +/-Fibrosis (late-stage).
  • +/-Calcifications.[citation needed]

DDx:

  • Acquired renal cystic disease - rarely.[7]
    • Morphologically similar to acquired renal cystic disease.[8]
    • It is said that "... if you can count 'em it's simple cysts; if you can't it's polycystic (renal disease)."[8][9]

Images

  • PKD - extremely low mag. (WC)

  • PKD - very low mag. (WC)

  • PKD - low mag. (WC)

  • PKD - intermed. mag. (WC)

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Kidney, Right, Nephrectomy: 

    - Polycystic kidney with chronic pyelonephritis and changes of chronic 
      renal failure, consistent with polycystic kidney disease. 
    - NEGATIVE for malignancy.

Alternate

Left Kidney, Nephrectomy: 
- Polycystic kidney with changes of chronic renal failure (thyroidization), 
  consistent with polycystic kidney disease. 
- NEGATIVE for malignancy.

Micro

The sections show kidney with innumerable cysts with benign calcifications.

Some atypical cysts with papillations are present. These have bland epithelial cells and do not have apparent proliferative activity.

No mass lesion is present. No significant atypia is present.

See also

References

  1. ↑ Veroux, M.; Zerbo, D.; Basile, G.; Gozzo, C.; Sinagra, N.; Giaquinta, A.; Sanfiorenzo, A.; Veroux, P. (2016). "Simultaneous Native Nephrectomy and Kidney Transplantation in Patients With Autosomal Dominant Polycystic Kidney Disease.". PLoS One 11 (6): e0155481. doi:10.1371/journal.pone.0155481. PMID 27257690.
  2. ↑ 2.0 2.1 Nishimura, H.; Ubara, Y.; Nakamura, M.; Nakanishi, S.; Sawa, N.; Hoshino, J.; Suwabe, T.; Takemoto, F. et al. (Jul 2009). "Renal cell carcinoma in autosomal dominant polycystic kidney disease.". Am J Kidney Dis 54 (1): 165-8. doi:10.1053/j.ajkd.2009.01.270. PMID 19446940.
  3. ↑ Jilg, CA.; Drendel, V.; Bacher, J.; Pisarski, P.; Neeff, H.; Drognitz, O.; Schwardt, M.; Gläsker, S. et al. (2013). "Autosomal dominant polycystic kidney disease: prevalence of renal neoplasias in surgical kidney specimens.". Nephron Clin Pract 123 (1-2): 13-21. doi:10.1159/000351049. PMID 23752029.
  4. ↑ 4.0 4.1 4.2 Burt, Alastair D.;Portmann, Bernard C.;Ferrell, Linda D. (2006). MacSween's Pathology of the Liver (5th ed.). Churchill Livingstone. pp. 174-5. ISBN 978-0-443-10012-3.
  5. ↑ Perrone RD (June 1997). "Extrarenal manifestations of ADPKD". Kidney Int. 51 (6): 2022–36. PMID 9186898. http://www.nature.com/ki/journal/v51/n6/pdf/ki1997276a.pdf.
  6. ↑ Fogo, Agnes B.; Kashgarian, Michael (2005). Diagnostic Atlas of Renal Pathology: A Companion to Brenner and Rector's The Kidney 7E (1st ed.). Saunders. pp. 426. ISBN 978-1416028710.
  7. ↑ Kessler M, Testevuide P, Aymard B, Huu TC (1991). "Acquired renal cystic disease mimicking adult polycystic kidney disease in a patient undergoing long-term hemodialysis". Am. J. Nephrol. 11 (6): 513–7. PMID 1819219.
  8. ↑ 8.0 8.1 RJ. 20 October 2010.
  9. ↑ Barbaric, Zoran L. (1994). Principles of Genitourinary Radiology (2nd ed.). Thieme. pp. 87. ISBN 978-0865774933.
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