n ephrotic syndrome SRNS in adults Should we search for a genetic cause Identified gene mutations associated with phenotypes with clinical implications of a molecular diagnosis for patients ID: 792153
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Slide1
Sporadic steroid-resistant
n
ephrotic syndrome (SRNS) in adults:
Should we search for a genetic cause?
Identified gene mutations associated with phenotypes with clinical implications of a molecular diagnosis for patients.
Gribouval et al, 2018
135
patients
-onset >18 years
-not
syndromic -FSGS and/or SRNS by biopsy-no family history of SRNS
NGS targeted gene
panel 35 SRNS genes
Patient Selection
Testing
APOL1
10.4% (14)
Mutations
11.8% (16)
None78% (105)
SRNS Genes56.3% (9)
Type IV Collagen Genes 43.7% (7)
Results
Slide2Development and validation of a renal risk score in ANCA-associated glomerulonephritis
Renal Risk Score and mobile app were developed for predicting ESRD in ANCA-associated glomerulonephritis
Brix et al
,
2018
-
115 patients
- Prospective
-
N
ew diagnosis of ANCA-GNTraining CohortRenal Risk Score
Validation Cohort
-
90 patients
- Identified risk factors for ESRD
Mobile Application
- “ANCA
Renal Risk
Score”
application
for mobile
devices