Consolato M. SERGI is the Chief of Anatomic Pathology at the Children’s Hospital of Eastern Ontario, and full professor of Pathology and Pediatrics at the Universities of Alberta and Ottawa, ON, Canada. He obtained his MD degree with honors (1989) and specialization in Pediatrics (1993) at the University of Genoa/Gaslini Children’s Hospital. He subsequently specialized in Pathology at the University of Heidelberg, Germany (2001) and received the Honorary Clinical Reader title at the University of Bristol, UK (2002). He completed his Ph.D. (Habilitation) at the University of Innsbruck, Austria (2004) and MSc Public Health in Austria (2007). Dr. Sergi has successfully passed his Canadian MD credentials and his Fellowship exam in Anatomic Pathology (FRCPC) at the Royal College of Physicians and Surgeons in Ottawa, Canada (2013). He focused on cholangiopathies, metabolic liver diseases, gut/bile microbiome, hepatic tumors, and bone cell biology with >100 MSc/Ph.D. students and fellows.
The hepato-renal fibro cystic diseases (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Despite being commonly seen in the neonatal and pediatric age, some HRFC diseases may remain unidentified until adulthood. Some HRFC diseases have consistent developmental abnormalities mostly involving the liver and kidney. Grossly, some HRFC diseases can be recognized and differentiated, but often the microscopic investigation and a molecular biology investigation are critical. Under the lens the changes include the proliferation and dilatation of epithelial ducts in the hepato-renal tissues with abnormal deposition of extracellular matrix. Here, 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). Extrahepatic manifestations include mostly bone and central nervous system abnormalities, dysmorphic features, and developmental delay.
Distinguish adult polycystic kidney disease from pediatric polycystic kidney disease
Compare multicystic kidney disease with polycystic kidney disease
Recognize medullary cystic kidney disease
Describe the congenital hepatic fibrosis
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