Abstract: FR-PO677
Genetic Analysis of Familial Mediterranean Fever in an ESKD Cohort
Session Information
- Genetic Kidney Diseases: Cohort Studies - Genetic Associations and Diagnoses
October 25, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Al-Sheyyab, Ahmed, The Hashemite University, Zarqa, Zarqa, Jordan
- Wahdan, Rania Ali, Ministry of Health, The Hashemite Kingdom of Jordan, Amman, Jordan
- Bani Hani, Anas, The Hashemite University, Zarqa, Zarqa, Jordan
- Al-thnaibat, Mohammad Hassan, The Hashemite University, Zarqa, Zarqa, Jordan
- Yasin, Salem, The Hashemite University, Zarqa, Zarqa, Jordan
- Tahtamouni, Lubna Hamid, The Hashemite University, Zarqa, Zarqa, Jordan
Background
Familial Meditiranean Fever (FMF) is an autoinflammatory genetic disorder that results from a mutation in MEFV gene. FMF increases the risk of secondary amyloidosis (i.e., renal amyloidosis). Limited FMF research have studied populations with the ultimate hard outcome of renal amyloidosis, or End-Stage-Renal-Disease patients (ESRD). Our study aimed to assess the frequency rate of FMF gene variants in an ESRD cohort and correlate it with the general population.
Methods
The study was a prospective study of hemodialysis a jordanian cohort. Enrolled patients underwent laboratory screening for FMF by conducting Polymerase Chain Reaction and reverse hybridization. Patients with a positive FMF genetic screening were offered colonoscopy with multiple rectal biopsies. Amyloid staining were used to assess for pathological evidence of amyloidosis.
Genetic data for control subjects where obtained from GnomAD v4.0.0 database, those with Middle Eastern Ancestry were segregated and used as our control group.
Results
Our study demonstrated that our studied ESRD patients, when compared with healthy controls, carry a higher allele frequency rate of all FMF variants (30% Vs 11.1%). For patients with a positive FMF gene, two patients demonstrated symptoms of FMF. The remaining asymptomatic patients, one out of 5 patients who consented for colonscopy, had confirmed pathological evidence of amyloidoisis.
Conclusion
Among our Jordanian cohort, patients with ESRD carry higher allele frequency of FMF variants than healthy controls.
| Dialysis cohort n (%), n = 79 | Middle Eastern controls n (%), n = 6,602 | ||
| E148Q: | 10 (16.13) | 393 (6.5) | p < . 012 |
| M694V: | 3 (4.84) | 28 (0.46) | p <.001 |
| V726A: | 6 (9.68) | 75 (1.24) | p <.001 |
| P369S: | 2 (3.23) | 85 (1.4) | - |
| A744S: | 2 (3.23) | 91 (1.5) | - |
| Total FMF variant: | 24 (30) | 672 (11.1) | Chi2 = 34.1363 p p <.001 |