Carried by: FILFOIE
References:
Clinician(s): Emmanuel GONZALES
Biologist(s): Anne DAVIT-SPRAUL
Presentation
- Chronic progressive diseases, particularly cholestatic diseases
- Acute liver failure
- Non-cirrhotic portal hypertension (aka Porto-sinusoidal venous disease)
Criteria before considering a discussion in MDM-FMG
- Signs of cirrhosis, of portal hypertension, of chronic cholestasis; extrahepatic signs?
- Liver function tests, including serum bile acids and hepatic synthesis functions
- Metabolic biochemical tests
- Liver imaging, at least ultrasound
- Liver (biopsy/native) histological examination, where possible
- Familial medical history, consanguinity
- Molecular analyses already performed (panel of liver diseases +/- mitochondrial/metabolic diseases including storage diseases +/- ciliopathies)
- Results of the cholestasis dedicated NGS panel (for cholestatic diseases)
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM-FMG Liver diseases first diagnosed in children
National
Le Kremlin-Bicêtre
Emmanuel GONZALES
Pierre Broué
Noémie Laverdure