Renal-hepatic-pancreatic dysplasia

Under called the reno - hepato -pancreatic dysplasia, even after his first describer Björn Ivemark Ivemark syndrome or congenital hepatic fibrosis I, refers to a rare congenital disease with cysts in the kidney, the bile ducts and pancreas. It can be inherited as an autosomal recessive, sporadic or occur in the context of other malformation syndromes. It runs mostly been fatal in the neonatal period.

Symptoms

Cysts in the renal cortex, extending from the renal tubules, leading to a progressive kidney failure. They have been documented since the 16th week of pregnancy. The cysts in the liver go out of the bile ducts. It is found also around a proliferation of the connective tissue (fibrosis ) around the veins of the liver lobes. Which leads to a progressive liver failure, chronic jaundice. Since the pancreas is also affected, is established at the children who survive the neonatal period, a insulinpflichtigre diabetes mellitus.

Cause

In addition to various sporadic cases occurred more authors have families with multiple affected children identified after the first describer. This prompted R. Torra et al. to accept an autosomal recessive pattern of inheritance. However, a reno - hepato - pancreatic dysplasia also comes under different parent malformation syndromes ago as trisomy 9, trisomy 13, the Meckel syndrome, or the Zellweger syndrome. Therefore, it is also possible that it is a genetically diverse group of disorders that lead to the different disturbing influences on the development of organs in the same pathological final pathway.