Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina

Molecular Genetics and Metabolism Reports

Norberto Antongiovanni¹  Sebastián Jaurretche²  Fernando Perretta³ 

[1] Centro de Infusión y Estudio de Enfermedades Lisosomales del Instituto de Nefrología Clínica Pergamino, Argentina and GINEF (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Provincia de Buenos Aires, Argentina;Centro de Neurociencias los Manantiales, Grupo Gamma, GINEF (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Rosario, Provincia de Santa Fe, Argentina;Unidad de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Buenos Aires, Argentina;

关键词: Fabry disease;    Chronic kidney disease;    Cardiovascular events;    Neuropathy;   

DOI  :  10.1016/j.ymgmr.2017.05.007

来源: DOAJ

【 摘 要 】

Nephropathy is one of the major complications of Fabry Disease (FD) and mainly includes reduced glomerular filtration rate (GFR) and proteinuria. Despite the frequency, scarce information exists regarding the frequency of CKD as well as other related complications in FD patients in Argentina. The aim of the study was to measure the prevalence of CKD at diagnosis of FD as well as to describe other related conditions in a large cohort of patients with FD. Methods: a cross-sectional study performed in three FD centers of Argentina during January 2014 and January 2016. Information at diagnosis regarding patient demographics, disease characteristics, key laboratory values, and renal, cardiac, cerebrovascular diseases and other related complications were collected. Results: A total of 60 patients were included. The mean age at diagnosis was 25.5 ± 16 years. 42% of included patients presented CKD in which the disease was mild (GFR ≥60 and <90) in 60% (n = 15), moderate (GFR ≥30 and <60) in 16% (n = 4), severe (GFR ≥15 and <30) in 4% (n = 1) and failure (GFR <15) in 20% (n = 5). Arrhythmias were reported for 13.3% of patients. In 33.3% the echocardiographic evaluation demonstrated left ventricular hypertrophy and peripheral neuropathy in 63.3%. Conclusion: This study presents information regarding the prevalence of CKD in a large cohort of FD patients at the moment of diagnosis in Argentina. Future studies will help us to confirm these initial findings.

【 授权许可】

Unknown