Presentation
Genetic kidney diseases account for more than 10% of patients reaching the dialysis or transplant stage. The heritability of various biological parameters (glomerular filtration, etc.) is around 30-60%. Traditional diagnostic methods (blood/urine tests, biopsy, imaging) cannot distinguish between acquired disease and genetic disease.
It is estimated that at least 15% of incident transplant patients have so-called indeterminate nephropathy, a large proportion of which is genetic in origin (around 30%).
Criteria before considering a discussion in MDM-FMG
- For SeqOIA: fill in the PowerPoint presentation for each type of preliminary indication, send it to the MDM organiser and use it to present the case at the MDM
Recessive nephropathy with a single variant ORKiD SEQOIA
RCP _Syndromic nephropathy-ORKiD SEQOIA RCP_
Undetermined renal disease-45 years old-ORKID-SEQOIA
- For AURAGEN: fill in the AURAGEN RCP form to be sent to the RCP secretary
RCP_form M1 Auragen ORKID RCP _
- For conditions requiring panel analysis, please visit https://www.filiereorkid.com/liste_pathologies/ and download the relevant questionnaire
Genome Sequencing in diagnostic strategy
MDM cartography
MDM MARHEA
Laurence HEIDET
Lucile FIGUERES
Marguerite HUREAUX
MDM G4-IDF
MDM NEPHROGONES
Aurélia BERTHOLET THOMAS
MDM ORKiD East
Elise SCHAEFER
elise.schaefer@chru-strasbourg.fr
Ariane ZALOSZYC
ariane.zaloszyc@chru-strasbourg.fr
Noelle COGNARD