Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria

Abstract

Summary The diagnosis of Anderson–Fabry disease is often delayed or even missed. As severe renal manifestations are a hallmark of alfa‐galactosidase A (AGAL) deficiency, we tested the hypothesis that Anderson–Fabry disease is under‐recognized among male kidney transplant recipients. This nation‐wide study in Austria enrolled 1306 patients (ca 65% of all kidney transplanted males) from 30 kidney centers. AGAL activity was determined from filter paper dried blood spots by a fluorescence assay. A positive screening test was defined by an AGAL activity below 1.5 nmol/h/ml. In patients with a positive blood spot‐screening test, AGAL activity was re‐examined in peripheral blood leukocytes. Genetic testing for mutations in the GLA gene was performed by sequencing to confirm the diagnosis of Anderson–Fabry disease. Two previously not recognized cases with Anderson–Fabry disease were identified. Our study is the first showing that a diagnosis of Anderson–Fabry disease can be missed even in patients who undergo kidney transplantation. Case‐finding strategies may be considered a useful tool for diagnosis of this rare disease that may be somewhat more prevalent among kidney transplant recipients compared with dialysis populations.

Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females

“…The FD prevalence estimated in the present study was 0.19% and after algorithm was considered, prevalence increased to 0.87%, was close to that previously reported [10-20]. Studies performed in Brazil by Marinho et al in 2007 reported an FD prevalence of 0.52% for the city of Natal in the state of Rio Grande do Norte and Vale et al found 0.57% in the state of Piauí [13, 14].…”

“…Even though more men were screened, there were more women with FD in the population. This is in contrast with previous reports that FD is more prevalent in men [8, 10-15]. We believe that women are not screened because the diagnostic test for women consists of a more expensive DNA analysis versus that in men, an enzyme measurement that is less expensive [4].…”

“…It is evident in published studies that women have been overlooked in FD screenings [10-15]. However, we found a higher FD prevalence in women.…”

“…Most studies reporting FD prevalence studied populations with CKD receiving dialysis treatment and screened only men in risk populations without the use of specific tools [10-15]. …”

Fabry Liga: Klinikinis Atvejis Ir Literatūros Apžvalga

“…vyrų). 2009 m. nacionalinė patikra Austrijoje pakartota ir nustatyti dar 2 anksčiau nediagnozuoti atvejai [15]. Prieš metus ir Lietuvoje pradėta dializuojamų pacientų patikra dializės centruose, laukiama tyrimo rezultatų.…”