Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

Abstract

Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named “Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil”. Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo

“…This number reflects the X-linked inheritance pattern of Fabry disease and suggests that the incidence of Fabry disease in women can be estimated at 1/20.000, compared to the traditional incidence of 1/40,000 in men18. Similarly, a screening study in patients with chronic kidney disease on hemodialysis therapy in Brazil showed an incidence of 66.1% in women, very similar to data from the present study 21 .…”

Perfil genético e fenotípico da doença de Fabry na população do Vale do Paraíba e Zona Leste de São Paulo

“…Esse número reflete o padrão de herança ligado ao X da doença de Fabry e sugere que a incidência da doença de Fabry em mulheres pode ser estimada em 1/20.000, comparada à incidência tradicional de 1/40.000 em homens 18 . De maneira semelhante, um estudo de rastreio em pacientes com doença renal crônica em terapia de hemodiálise no Brasil demonstrou incidência de 66,1% em mulheres, muito semelhante aos dados do presente estudo 21 .…”