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

• multivisceral dysplastic syndromes