Cystic kidney diseases
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Cystic kidney diseases, also cystic renal diseases, are a group of medical kidney diseases characterized by multiple cysts.
Renal neoplasms, e.g. renal cell carcinoma, may be cystic. They are dealt with in kidney tumours.
Overview
Adult
- Autosomal dominant polycystic kidney disease (ADPKD).
- Adult-onset medullary cystic disease.
- Acquired renal cystic disease.
- Cystic renal cell carcinoma.
Pediatric
- Autosomal recessive polycystic kidney disease (ARPKD).
- Medullary sponge kidney.
- Nephronophthisis.
Specific diseases
Autosomal dominant polycystic kidney disease
- Abbreviated ADPKD.
General
Etiology
- Mutation in PKD1 gene or PKD2 gene.
- Is classified in a large group of diseases - ciliopathies.
PKD1 related disease:[1]
- Encodes polycystin.
- Death at ~53 years.
- Assoc. with cerebral aneurysms.
PKD2 related disease:[1]
- Death at ~69 years.
- Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.
Liver cysts and PKD
General
Features:
- Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:[2]
- Age dependence:
- 10-17% <40 years old have liver cysts.
- 70-75% >60 years old have liver cysts.
- Renal function:
- 60-70% of patients with end-stage renal disease (ESRD) and near-ESRD.
- Females more often affected.
- Age dependence:
- Hepatic function usu. preserved.
Complications:[1]
- Infected cyst.
- 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.
- Number of cysts:
- If you can count 'em it favours acquired renal cystic disease... if you can't it favours the genetic condition.
- Number of cysts:
Microscopic
Features:[3]
- Cysts lined by simple flattened epithelium.
- Normal renal tubules interspersed between cysts.
- +/-Fibrosis (late-stage).
DDx:
- Acquired renal cystic disease - rarely.[4]
Acquired renal cystic disease
General
- Thought to arise due to uremia,[7] not specific to the type of renal dialysis, i.e. hemodialysis vs. peritoneal dialysis.
- Presence of cysts dependent on duration of dialysis:[7]
- < 3 years ~44%.
- >4 years ~80%.
- >10 years ~90%.
- Associated with papillary renal cell carcinoma.[8]
Microscopic
Features:[4]
- Cysts - location: cortex and medulla.
- Lined by simple flattened epithelium.
DDx:
- Autosomal dominant polycystic kidney disease rarely,[4] see Microscopic in ADPKD.
- Acquired cystic disease-associated renal cell carcinoma.
Autosomal recessive polycystic kidney disease
- Abbreviated ARPKD.
General
- Uncommon.
- Homogenous for mutated PKHD1 gene (polycystic kidney and hepatic disease).[9]
- The same gene is implicated in Caroli disease.
- Associated with congenital hepatic fibrosis
Subdivided into:[10]
- Neonatal.
- Infantile.
- Juvenile.
Gross
Features:[10]
- Marked bilateral enlargement - may almost fill the abdomen.
- Smooth cortical surface.
- Poorly demarcated corticomedullary junction.
DDx:
- Multicystic renal dysplasia - has larger variability of cyst size.
Images:
Microscopic
Features:[12]
- Numerous cysts of the collecting ducts.
- Typically radially arranged.
- Lined by cuboidal cells.
- Abnormally low number of glomeruli.
See also
References
- ↑ 1.0 1.1 1.2 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.
- ↑ 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.
- ↑ 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.
- ↑ 4.0 4.1 4.2 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.
- ↑ 5.0 5.1 RJ. 20 October 2010.
- ↑ Barbaric, Zoran L. (1994). Principles of Genitourinary Radiology (2nd ed.). Thieme. pp. 87. ISBN 978-0865774933.
- ↑ 7.0 7.1 Fick GM, Gabow PA (October 1994). "Hereditary and acquired cystic disease of the kidney". Kidney Int. 46 (4): 951–64. PMID 7861721. http://www.nature.com/ki/journal/v46/n4/pdf/ki1994354a.pdf.
- ↑ 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. 438. ISBN 978-1416028710.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 263200
- ↑ 10.0 10.1 Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 235. ISBN 978-1416002741.
- ↑ Lonergan, GJ.; Rice, RR.; Suarez, ES.. "Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation.". Radiographics 20 (3): 837-55. PMID 10835131.
- ↑ Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 236. ISBN 978-1416002741.