Abstract: PUB424
Saudi Children Have High Prevalence of Genetic Related Atypical Hemolytic Uremic Syndrome and Better Renal Recovery with Eculizumab Therapy
Session Information
Category: Genetic Diseases of the Kidney
- 803 Genetic Epidemiology and Other Genetic Studies of Common Kidney Diseases
Authors
- Bamhraz, Abdulaziz Ahmed, king Fahad medical city, Riyadh, Saudi Arabia
- Alanazi, Abdulkarim Saleh, king Fahad medical city, Riyadh, Saudi Arabia
- Rahim, Khawla A., king Fahad medical city, Riyadh, Saudi Arabia
Background
Atpical hemolytic uremic syndrome (aHUS) is ultra-rare disease, characterized by microangiopathy hemolytic anemia, thrombocytopenia and renal impairment. Genetic defects that determine uncontrolled activation of the alternative complement pathway have been well documented, it accounts for about 40%–60% of the cases. Recent studies demonstrate the effectiveness of Eculizumab in aHUS treatment. In Saudi Arabia, there is up to 56% of consanguinity marriage resulting in higher prevalence of genetic diseases. We are reporting the experience of a tertiary care center in Saudia for children with aHUS who were treated with plasma therapy and or Eculizumab, their outcome and genetic background.
Methods
This is a retrospective study, from January 2010 till May 2017 in a tertiary care center comparing children with aHUS who had received plasma therapy to those received Eculizumab therapy which was introduced at our center in 2014. We report our data in regard to demographic, clinical presentation, the length of hospital stay, need for dialysis, renal recovery and genetic mutations.
Results
21 Saudi children who have similar demographic background diagnosed with aHUS, 12 (57%) of them showed complete renal and hematologic recovery (67% in the Eculizumab group versus 33 % in plasma therapy group). Six cases (29 %) reached End Stage Renal Disease (ESRD), four patients (67 %) of these cases from the plasma therapy group; two patients (33%) from Eculizumab group reached ESRD, their genetic mutations were not related to complement dysregulation system. Two of the 21 cases (17%) developed disease recurrence while receiving plasma therapy but no recurrence developed after using Eculizumab. Hospitalization was reduced by 10.6 days in Eculizumab group. 11 (69%) of the 16 cases who underwent genetic testing have identified gene mutations.
Conclusion
In our 21 cases with aHUS, Eculizumab was superior to plasma therapy in inducing, maintaining remission, and associated with better renal recovery. Genetic mutations detected among our patients were higher than reported for this ultra-rare disease, most probably related to the high prevalence of consanguinity marriage.