TABLE 1

Hepatorenal Fibrocystic Diseases: Summary of Genetics and Clinical Features

DiseaseGene(s)Renal DiseaseHepatic DiseaseAssociated Features
ARPKDPKHD1Collecting duct dilatationCHF; Caroli diseaseGrowth retardation
ADPKDPKD1, PKD2Cysts along entire nephronBiliary cysts; CHFMinimal in children
NPHPNPHP1–NPHP15Cysts at the corticomedullary junctionCHFTapetoretinal degeneration, situs inversus
Joubert syndromeJBTS1–JBTS20Cystic dysplasia; NPHPCHF; Caroli diseaseCerebellar vermis hypo/aplasia with episodic hyperpnea, abnormal eye movements, intellectual disability
Bardet-Biedl syndromeBBS1–BBS15Cystic dysplasia; NPHPCHFRetinal degeneration, obesity, postaxial polydactyly, hypogonadism in males, intellectual disability
Meckel-Gruber syndromeMKS1–MKS10Cystic dysplasiaCHFOccipital encephalocele, polydactyly
Oral-facial-digital syndrome, type IOFD1Glomerular cystsCHF (rare)Malformations of the face, oral cavity, and digits
Glomerulocystic diseasePKD1, TCF2, UMODEnlarged; normal or hypoplastic kidneysCHF (with PKD1 mutations)Diabetes, hyperuricemia
Jeune syndrome (asphyxiating thoracic dystrophy)IFT80 (ATD2)Cystic dysplasiaCHF; Caroli diseaseShort stature, skeletal dysplasia, small thorax, short limbs, polydactyly, hypoplastic pelvis
DYNC2H1 (ADT3)
ADT1, ADT4, ADT5
Renal-hepatic-pancreatic dysplasia (Ivemark II syndrome)NPHP3Cystic dysplasiaIntrahepatic biliary dysgenesisPancreatic cysts, dysplasia, and/or fibrosis; splenic abnormalities; situs inversus
Zellweger syndromePEX1-3, 5-6, 10-11, 13, 14, 16, 19, 26Renal cortical microcystsIntrahepatic biliary dysgenesisHypotonia, seizures, agenesis/hypoplasia of corpus callosum, characteristic facies, skeletal abnormalities, neonatal death
  • Adapted with permission from Somlo and Guay-Woodford.143 CHF, congenital hepatic fibrosis; NPHP, nephronophthisis.