hepatorenal dysplastic syndromes
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions. HRFC syndromes present in the neonatal and paediatric age with consistent developmental abnormalities mostly involving the liver and kidney, including the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix.
Synopsis
bilateral non-obstructive multicystic renal dysplasia (BNOMRD)
hepatic ductal plate dysplasia (ductal plate malformation or DPM)
- hepatic fibrocystic disease (HFCD) or liver fibrocytsic disease (previously congenital hepatic fibrosis)
Etiology
autosomal recessive polycystic kidney disease (renal ARPKD, hepatic ARPKD)
juvenile nephronophthisis (NPHP)
Meckel-syndrome (Meckel-Gruber syndrome (MKS)
Bardet-Biedl syndrome (BBS)
Jeune syndrome (Jeune asphyxiating thoracic dystrophy or JATD)
Ellis-van Creveld syndrome (EvC)
Zellweger syndrome
medullary cystic disease complex (medullary cystic diseases)
tuberous sclerosis
Sensenbrenner syndrome (17022080)
See also
visceral dysplasia
multivisceral dysplasia