Autosomal recessive polycystic kidney disease
Jump to navigation
Jump to search
Autosomal recessive polycystic kidney disease, abbreviated ARPKD, is an uncommon recessive genetic condition leading to renal failure.
General
- Uncommon.
- Homogenous for mutated PKHD1 gene (polycystic kidney and hepatic disease).[1]
- The same gene is implicated in Caroli disease.
- Associated with congenital hepatic fibrosis
Subdivided into:[2]
- Neonatal.
- Infantile.
- Juvenile.
Gross
Features:[2]
- 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:[4]
- Numerous cysts of the collecting ducts.
- Typically radially arranged.
- Lined by cuboidal cells.
- Abnormally low number of glomeruli.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 263200
- ↑ Jump up to: 2.0 2.1 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.