Medicine:Renal-hepatic-pancreatic dysplasia
From HandWiki
| Renal-hepatic-pancreatic dysplasia | |
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| Other names | Ivemark II syndrome,Renohepaticopancreatic dysplasia |
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| Gross photo of liver and pancreas showing multiple cysts in the latter in a patient with renal-hepatic-pancreatic dysplasia. | |
Renal-hepatic-pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. It is usually fatal soon after birth.
An association with NPHP3 has been described.[1]
It was characterized in 1959.[2][3]
References
- ↑ "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia". Am. J. Hum. Genet. 82 (4): 959–970. April 2008. doi:10.1016/j.ajhg.2008.02.017. PMID 18371931. PMC 2427297. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(08)00209-7.
- ↑ "Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome)". Diagn Pathol 2: 24. 2007. doi:10.1186/1746-1596-2-24. PMID 17605805. PMC 1919354. http://www.diagnosticpathology.org/content/2//24.
- ↑ "Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome". Acta Paediatr 48 (1): 1–11. January 1959. doi:10.1111/j.1651-2227.1959.tb16011.x. PMID 13626573.
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