Although we carefully select patients through the initial questionnaire, clinical and genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) may be challenging. This results from the broad spectrum of disease manifestation ranging from predominantly liver phenotypes or cystic kidney transformation, from the fact that families in central Europe tend to be small making it difficult to tackle recessive disease traits and also from the fact that there a novel manifestations of germ-line mutations. To furthermore assure patient diagnosis we will offer reference histology at the Department of Pathology of the University Hospital of Cologne under the guidance of Professor Reinhard Buettner, an internationally recognized expert on ARPKD.
After informed consent renal and hepatic biopsy samples are taken and primarily evaluated in the participating centers and other peripheral hospitals. They can then be sent to the reference center. Evaluation of the samples will consist of hematoxylin and eosin-stained, Elastica van Gieson-stained and silver-stained tissue slides both from kidneys and liver. If available we will also assess histology of pancreas, lung and heart.
This approach will ensure a high level of security providing that only cases with the right diagnosis are accepted and also guarantee collection and storage of histological images in a standardized procedure.
For participating centers: Please contact the ARegPKD coordinators for details concerning reference histology. Please use the contact form.