Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference

J Pediatr. 2006 Aug;149(2):159-64. doi: 10.1016/j.jpeds.2006.03.014.

Abstract

Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by the ARPKD/CHF Alliance. The meeting addressed the present status and the future of ARPKD/CHF research.

Publication types

  • Congress
  • Research Support, N.I.H., Intramural

MeSH terms

  • Angiotensin-Converting Enzyme Inhibitors
  • Anticholesteremic Agents / therapeutic use
  • Bile Ducts / metabolism
  • Calcium Channels / metabolism
  • Child
  • Disease Progression
  • Gene Expression
  • Humans
  • Hypertension, Portal / drug therapy
  • Hypertension, Portal / epidemiology
  • Kidney Tubules, Distal / metabolism
  • Kidney Tubules, Proximal / metabolism
  • Liver Cirrhosis / congenital*
  • Liver Cirrhosis / epidemiology
  • Liver Cirrhosis / therapy*
  • Phenotype
  • Phosphoric Diester Hydrolases / metabolism
  • Point Mutation / genetics
  • Polycystic Kidney, Autosomal Recessive / epidemiology
  • Polycystic Kidney, Autosomal Recessive / genetics*
  • Polycystic Kidney, Autosomal Recessive / therapy*
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism

Substances

  • Angiotensin-Converting Enzyme Inhibitors
  • Anticholesteremic Agents
  • Calcium Channels
  • PKHD1 protein, human
  • Receptors, Cell Surface
  • Phosphoric Diester Hydrolases