Abstract: SA-PO629

Fabry Disease Prevalence in Kidney Transplant Patients: A Multicenter Study

Session Information

Category: Genetic Diseases of the Kidney

  • 803 Genetic Epidemiology and Other Genetic Studies of Common Kidney Diseases

Authors

  • Yalin, S. F., Istanbul Univ., Istanbul, Turkey
  • Gulcicek, S., Istanbul T.R.Hosp., Istanbul, Turkey
  • Mese, M., Kartal T.R.Hosp., Istanbul, Turkey
  • Turkmen, K., Necmettin Erbakan Univ., Konya, Turkey
  • Arik, N., Ondokuz Mayis Univ., Samsun, Turkey
  • Bicik, Z, Kartal T.R.Hosp., Istanbul, Turkey
  • Ogutmen, M. B., Haydarpasa Numune Hosp., Istanbul, Turkey
  • Kocak, H., Akdeniz Univ., Antalya, Turkey
  • Caliskan, Y., Istanbul Univ., Istanbul, Turkey
  • Ecder, T., Istanbul Bilim Univ., Istanbul, Turkey
  • Seyahi, N., Istanbul Univ., Istanbul, Turkey
  • Eren, N, Kocaeli Univ., Kocaeli, Turkey
  • Sinangil, A., Istanbul Bilim Univ., Istanbul, Turkey
  • Ucar, A., Istanbul Univ., Istanbul, Turkey
  • Yilmaz, V. T., Akdeniz Univ., Antalya, Turkey
  • Can, O, Haydarpasa Numune Hosp., Istanbul, Turkey
  • Gurkan, A, Medicana C. Hosp., Istanbul, Turkey
  • TAYMEZ, D, Kocaeli S. Hosp., Kocaeli, Turkey
  • Ecder, S., Istanbul Medeniyet Univ., Istanbul, Turkey
Background

Higher prevalence of Fabry disease was reported in specific patient populations. To the best of knowledge, a formal prevalence study was not conducted in kidney transplant (TX) recipients. We aimed to investigate the prevalence of Fabry disease in transplant recipients.

Methods

We performed a multicenter cross-sectional study in transplant centers. We also screened dialysis (D) patients to have comparative data. All adult patients were screened regardless of primary disease. Blood was collected for the measurement of alpha-galactosidase enzyme activity in males and for the screening of genetic mutations in females. Additionally, a genetic screening was performed in males with low alpha-galactosidase enzyme activity.

Results

We screened 2206 TX and 1442 D patients for a total of 3648 cases (mean age 48,9±15,7; 63,1%male). Data regarding study population are shown in Table 1. In the whole population, a total of 12 unique mutation were detected in 23 patients (0,63% ) ( 15 with TX, 8 with D).

Conclusion

Our results have important implication regarding TX activity. First, in countries where living donation is common, donors are generally relatives of the patients. Therefore in those cases, screening for the genetic diseases that can lead to kidney failure is important. Second, recurrence can be prevented with timely initiation of enzyme replacement therapy and patients might have better survival.

 TxDialysisP
Age46,6±14,752,4±16,40,000
Male (%)68,954,10,000
Etiology Diabetes (%)7,731,30,000
Etiology Unknown (%)3824,40,000
Etiology Other (%)54,344,30,000
Patients with low α-gal (%)6,19,30,000
Patients with mutation (%)0,670,550,640