Incidence of Fabry disease in patients with chronic kidney disease in three Atlantic health centers during 2017-2018
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Keywords

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

How to Cite

1.
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: https://revistanefrologia.org/index.php/rcn/article/view/410

Abstract

Introduction:

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.

Objectives:

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

Methodology:

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.

Results:

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.

Conclusions:

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.

https://doi.org/10.22265/acnef.8.3.410
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References

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