Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages

被引：0

作者：

Choua Martin

Neumann Pablo

Quieto Pedro

Rozenfeld Paula

机构：

[1] AADELFA,Servicio de Nefrología

[2] Ipensa,Departamento de Ciencias Biológicas

[3] Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP),undefined

[4] UNLP,undefined

[5] CONICET,undefined

[6] asociado CIC PBA,undefined

[7] Facultad de Ciencias Exactas,undefined

来源：

Journal of Nephrology | 2022年 / 35卷

关键词：

Fabry disease; High risk screening; Alpha galactosidase A; Chronic kidney disease;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

We report three patients diagnosed with Fabry disease through a screening study which included individuals suffering from chronic kidney disease (CKD) at any stage. The study recruited 1740 male patients, and three Fabry patients were diagnosed, resulting in a frequency of 0.17%. The analysis by CKD stage group revealed frequencies of 3.03%, 0.77% and 0.17%, in CKD1, CKD3 and CKD5, respectively. Pedigree analysis was carried out for these families, with a high ratio index: pedigree (1:16). This study underlines the importance of considering Fabry disease in the differential diagnosis at every stage of CKD, including the early ones, and stresses the possibility of finding patients with late onset phenotypes.

引用

页码：2437 / 2440

页数：3

共 14 条

[1]

Eng CM(1994)Fabry disease: twenty-three mutations including sense and antisense CPG alterations and identification of a deletional hot-spot in the α-galactosidase A gene Hum Mol Genet 3 1795-1799

[2]

Arends M(2017)Characterization of classical and nonclassical fabry disease: a multicenter study J Am Soc Nephrol 28 1631-1641

[3]

Marchesoni CL(2010)Misdiagnosis in Fabry disease J Pediatr 156 828-831

[4]

Donehy D(2018)Fabry Disease: prevalence of affected males and heterozygotes with pathogenic J Med Genet 55 261-268

[5]

Capuano I(2019) mutations identified by screening renal, cardiac and stroke clinics, 1995–2017 J Nephrol 33 569-581

[6]

Van Der Tol L(2014)Identifying Fabry patients in dialysis population: prevalence of J Med Genet 51 1-9

[7]

Rozenfeld PA(2006) mutations by renal clinic screening, 1995–2019 Clin Genet 69 344-348

[8]

Tarabuso A(2020)A systematic review on screening for fabry disease: Prevalence of individuals with genetic variants of unknown significance Am J Med Sci 360 641-649

[9]

Ebner R(2020)A successful approach for the detection of Fabry patients in Argentina Drug Des Devel Ther 14 2149-2158

[10]

Ramallo G(2019)When and how to diagnose Fabry disease in clinical pratice Mol Genet Genom Med undefined undefined-undefined

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