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Genomics Precision Diagnostic > Prenatal > Congenital Hepatic Fibrosis Precision Panel

Congenital Hepatic Fibrosis Precision Panel

Congenital hepatic fibrosis (CHF) is an inherited or genetic condition that affects the liver and its function. Though CHF can present individually it is often associated with other disorders that can affect kidney function (hepatorenal fibrocystic disease).
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Congenital hepatic fibrosis (CHF) is an inherited or genetic condition that affects the liver and its function. Though CHF can present individually it is often associated with other disorders that can affect kidney function (hepatorenal fibrocystic disease). CHF is caused by malformations and abnormalities in the development of bile ducts starting with the ductal plate. The bile ducts are responsible for ensuring normal blood flow in the vessels of the hepatic portal system as well as the flow of bile. Thus, malformations in this system can disrupt this flow and leads to CHF. This condition is inherited mostly in an autosomal recessive pattern although autosomal dominant and X-linked forms are also found.
  • The Igenomix Congenital Hepatic Fibrosis Gene Panel can be used to make a directed and accurate differential diagnosis of hepatic fibrosis, ultimately leading to a better management of the comorbidities associated with it and a better prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

     

Indication

  • The Igenomix Congenital Hepatic Fibrosis Gene Panel is indicated for those patients with a clinical suspicion or diagnosis on hepatic fibrosis with other manifestations including:   
    • Enlarged liver and spleen (splenomegaly, hepatomegaly)
    • Polycystic kidney disease 
    • Increased blood pressure (hypertension)  
    • Enlarged kidneys (nephromegaly)
    • Inflammation in the bile ducts  

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
  • Early initiation of treatment with a multidisciplinary team for early pharmacologic treatment of portal hypertension, surgical care, early referral to specialties like invasive radiology, paediatric nephrology, or vascular surgeon and dietary modifications. 
  • Risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

Methodology

References

See scientific referrals

Drögemüller, M., Jagannathan, V., Welle, M. M., Graubner, C., Straub, R., Gerber, V., Burger, D., Signer-Hasler, H., Poncet, P. A., Klopfenstein, S., von Niederhäusern, R., Tetens, J., Thaller, G., Rieder, S., Drögemüller, C., & Leeb, T. (2014). Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. PloS one, 9(10), e110125. https://doi.org/10.1371/journal.pone.0110125 

De Vos, M., Barbier, F., & Cuvelier, C. (1988). Congenital hepatic fibrosis. Journal of hepatology, 6(2), 222–228. https://doi.org/10.1016/s0168-8278(88)80036-9 

Wen J. (2011). Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. Clinical and translational science, 4(6), 460–465. https://doi.org/10.1111/j.1752-8062.2011.00306.x 

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