Incidence of Fabry disease in patients with chronic kidney disease in three Atlantic health centers during 2017-2018
PDF (Español)
XML (Español)


Fabry Disease
alpha-Galactosidase A
Lysosomal Storage Diseases
Chronic Renal Insuficiency
X Chromosome

How to Cite

Barros Camargo L, Santamaria Mancera LE, Quintero Marzol ID, Gómez Alba KJ, Medina Buelvas AM, Ramos Villegas Y. Incidence of Fabry disease in patients with chronic kidney disease in three Atlantic health centers during 2017-2018: Incidencia de la enfermedad de Fabry en pacientes con enfermedad renal crónica atendidos en tres centros de salud del departamento de Atlántico, Colombia. 2017-2018. Rev. Colomb. Nefrol. [Internet]. 2021 Aug. 18 [cited 2024 Jul. 25];8(3):e410. Available from:



Fabry's disease consists of a lysosomal defect linked to the X chromosome that produces the accumulation of glycosphingolipids in different tissues. The clinical manifestations depend on the age of presentation, and includes skin lesions, acroparesthesia, pain crisis, anhidrosis, corneal opacities and hearing loss, among others.


Calculate the incidence of Fabry disease in patients diagnosed with chronic kidney disease


An ambispective study was designed, including all patients diagnosed with chronic kidney disease under medical control in three renal prevention centers located in the department of Atlántico, and which also met the inclusion and exclusion criteria. Subsequently, the review of the medical records and the sampling were carried out.


A total of 471 patients with chronic kidney disease were identified, with an overall incidence of 21.23 cases per 1000 people. However, only 20% were confirmed by genetic tests.


The incidence of Fabry disease in the population studied is greater than that reported in other cohorts. In addition, it is more frequent in the female sex.
PDF (Español)
XML (Español)


Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003 Sep;64(3):801–7.

Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. 2004 Mar;337(2):319–35.

Vega-Vega O, Pérez-Gutiérrez A, Correa-Rotter R. Enfermedad de Fabry-Anderson. Estado actual del conocimiento. Rev Invest Clin. 2011;63(3):314–21.

Olivera-González S, Josa-Laorden C, Torralba-Cabeza MA. Fisiopatología de la enfermedad de Fabry. Rev Clínica Española. 2018 Jan;218(1):22–8.

Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, et al. Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy. Circulation. 2002 Mar 26;105(12):1407–11.

Arévalo-Gómez A, Rivera-García S, López-Muñiz A, Barriales-Villa R. Hipertrofia ventricular izquierda severa e insuficiencia renal terminal de etiología incierta: ¿enfermedad de Fabry? Rev Clínica Española. 2012 May;212(5):265–6.

Lopera Medina MM. La enfermedad renal crónica en Colombia: necesidades en salud y respuesta del Sistema General de Seguridad Social en Salud. Gerenc y Políticas Salud [Internet]. 2016 Jun 30;15(30). Available from:

Matias-Guiu JA, Yus M, Jorquera M, Porta-Etessam J. Hiperintensidad pulvinar en T1: ¿un signo patognomónico de enfermedad de Fabry? Neurología. 2014 Sep;29(7):442–3.

Andrade J, Waters PJ, Singh RS, Levin A, Toh B-C, Vallance HD, et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol. 2008 Jan;3(1):139–45.

Porsch DB, Nunes ACF, Milani V, Rossato LB, Mattos CB, Tsao M, et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail. 2008;30(9):825–30.

Kabalan SN, Abbas S, Tawil L. A search for Fabry disease among male end-stage renal disease patients in Lebanon and a review of the literature. J Med Liban. 2013;61(3):144–7.

Turkmen K, Guclu A, Sahin G, Kocyigit I, Demirtas L, Erdur FM, et al. The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study. Kidney Blood Press Res. 2016;41(6):1016–24.

Sayilar EI, Ayar Y, Yavuz M. Prevalence of Fabry disease among Turkish dialysis patients: Data from hemodialysis centers in Bursa province. Clin Nephrol. 2016 Mar;85(3):165–72.

Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, et al. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST). Clin Exp Nephrol. 2016 Apr;20(2):284–93.

Yenicerioglu Y, Akdam H, Dursun B, Alp A, Saglam Eyiler F, Akin D, et al. Screening Fabry’s disease in chronic kidney disease patients not on dialysis: a multicenter study. Ren Fail. 2017 Nov;39(1):104–11.

Lin C-J, Chien Y-H, Lai T-S, Shih H-M, Chen Y-C, Pan C-F, et al. Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center. Kidney Blood Press Res. 2018;43(5):1636–45.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.




Download data is not yet available.