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Abstract: SA-PO423

Family Screening Among CKD Patients with Fabry Disease: A Very Important and Underrated Task

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Sodré, Luciana Senra de Souza, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil
  • Huaira, Rosalia Maria nunes henriques, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil
  • Colugnati, Fernando Antonio basile, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil
  • Coutinho, Marcelo Paula, Datagenno, Campos dos Goytacazes, Brazil
  • Fernandes, Natalia Maria da silva, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil

Introduction: Fabry disease is a chronic, progressive and multi-systemic hereditary condition, related to a Xq22 mutation in X chromosome, which results in deficiency of acid alpha-galactosidase, hence reduced capacity of globotriaosylceramide (Gb3) degradation. Gb3 accumulates in lysosomes throughout virtually every organ, thus carrying considerable morbidity and mortality.

Objective: Evaluate the prevalence of Fabry disease, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with Fabry disease during a previously conducted study, entitled “Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil – the Brazil Fabry Kidney project”.


Transversal study, interviewing the relatives of patients and performed blood tests for both Gb3 dosage and genetic testing.


Among 1214 interviewed relatives, 115 (9.47%) were given the diagnosis of Fabry disease, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological and cerebrovascular disease, and depression, in 0.9% of individuals. Intolerance to physical exercise and tiredness were observed in 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%.


Family screening of Fabry disease is highly indicated, since we found a prevalence of 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports.