Reno-hepato-pancreatic dysplasia

pathological specimen of the liver and pancreas with multiple cysts

Under the reno-hepato-pancreatic dysplasia , even after his first described Björn Ivemark Ivemark syndrome I or congenital hepatic fibrosis called, refers to a rare congenital disease with cysts in the kidneys, the bile ducts and pancreas. It can be inherited as an autosomal recessive trait, sporadically or as part of other malformation syndromes. It is usually fatal in the newborn period.

Symptoms

Cysts in the renal cortex that extend from the renal tubules lead to progressive kidney failure . They are already detectable from the 16th week of pregnancy. The cysts in the liver start from the bile ducts. There is also an increase in connective tissue ( fibrosis ) around the veins of the liver lobes. This leads to progressive liver failure with chronic jaundice . Since the pancreas is also affected, children who survive the neonatal period develop insulin-dependent diabetes mellitus .

root cause

In addition to various sporadic cases, other authors have identified families with several affected children after the initial description. This prompted R. Torra et al. to adopt an autosomal recessive inheritance. However, reno-hepato-pancreatic dysplasia also occurs in the context of various superordinate malformation syndromes such as trisomy 9 , trisomy 13 , Meckel syndrome or Zellweger syndrome . Therefore, it cannot be ruled out that this is a genetically inconsistent group of diseases in which different disruptive influences on organ development lead to the same pathological end.

literature

Ivemark BI, Oldfeld V, Zetterström R: Familial dysplasia of kidneys, liver, and pancreas: a probably genetically determined syndrome. In: Acta Pädiatr Scand. 1959; 48: 1-11

Individual evidence

↑ Leiber: The clinical syndromes. Edited by G. Adler, G. Burg, J Kunze, D. Pongratz, A. Schinzel, J. Spranger, Volume 1, 8th edition, pp. 741 f. ISBN 3-541-01718-X
↑ ^a ^b ^c Vankalakunti M, Gupta K, Kakkar N, Das A: Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). In: Diagn Pathol. 2007; 2:24 PMID 17605805
↑ ^a ^b Torra R et al .: Renal-hepatic-pancratic dysplasia: an autosomal-recessive disorder. In: J Med Genet. 1996; 33: 409-412 PMID 8733053

[leiber-1] Leiber: The clinical syndromes. Edited by G. Adler, G. Burg, J Kunze, D. Pongratz, A. Schinzel, J. Spranger, Volume 1, 8th edition, pp. 741 f. ISBN 3-541-01718-X

[vankala-2] Vankalakunti M, Gupta K, Kakkar N, Das A: Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). In: Diagn Pathol. 2007; 2:24 PMID 17605805

[torra-3] Torra R et al .: Renal-hepatic-pancratic dysplasia: an autosomal-recessive disorder. In: J Med Genet. 1996; 33: 409-412 PMID 8733053