The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and pediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix. In this presentation, we examine the clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Bardet-Biedl syndrome (BBS), and Jeune asphyxiating thoracic dystrophy (JATD) among others. We review recent molecular advances in the HRFC syndromes.
Identify the several types of hepato-renal fibrocystic diseases.
Assess the gross and histopathology of different hepato-renal fibrocystic diseases.
Select the loci and genes associated to specific hepato-renal fibrocystic diseases.
Describe the differentials and pitfalls of the hepato-renal fibrocystic diseases.
Consider advise genetic counseling in reporting hepato-renal fibrocystic diseases.