Ductal plate malformation

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Inclusion criteria

Ductal plate malformation as defined by an individual diagnosis of or any combination of multiple biliary hamartomas, Caroli’s disease, choledochal cyst, polycystic liver disease or congenital hepatic fibrosis Radiological and/or histological evidence supportive of DPM as the primary liver diagnosis. In addition, the clinical entity of idiopathic non-cirrhotic portal hypertension where a liver explant/representative liver biopsy is defined histologically using any of these interchangeable terms: hepatoportal sclerosis, incomplete septal cirrhosis, non-cirrhotic portal fibrosis.

Exclusion criteria

  • Where ductal plate malformation is part of a complex phenotype – recruit such cases to relevant ciliopathy disease group
  • Extrahepatic portal vein thrombosis, nodular regenerative hyperplasia, Budd-Chiari syndrome, sinusoidal obstruction syndrome.

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • If polycystic renal disease, PKD1, PKD2 (autosomal dominant), PKHD1 (autosomal recessive).

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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