The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study

被引：11

作者：

Mallett, Andrew ^{[1
,2
,3
,4
,5
]}

Kearey, Phoebe Jane ^{[4
,5
]}

Cameron, Anne ^{[4
,5
,6
]}

Healy, Helen G. ^{[4
,5
,6
]}

Denaro, Charles ^{[4
,7
]}

Thomas, Mark ^{[8
]}

Lee, Vincent W. ^{[9
,10
]}

Stark, Samantha Louise ^{[11
]}

Fuller, Maria ^{[11
,12
]}

Wang, Zaimin ^{[4
,5
]}

Hoy, Wendy E. ^{[4
,5
]}

机构：

[1] Townsville Univ Hosp, Dept Renal Med, Townsville, Qld, Australia

[2] James Cook Univ, Coll Med & Dent, Townsville, Qld, Australia

[3] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia

[4] Univ Queensland, Fac Med, Brisbane, Qld, Australia

[5] Univ Queensland, CKD QLD & NHMRC CKD CRE, Brisbane, Qld, Australia

[6] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia

[7] Royal Brisbane & Womens Hosp, Dept Internal Med & Aged Care, Brisbane, Qld, Australia

[8] Royal Perth Hosp, Dept Nephrol, Perth, WA, Australia

[9] Westmead Hosp, Dept Renal Med, Sydney, NSW, Australia

[10] Univ Sydney, Sydney Med Sch, Fac Med & Hlth, Sydney, NSW, Australia

[11] SA Pathology, Genet & Mol Pathol Lab, Adelaide, SA, Australia

[12] Univ Adelaide, Adelaide Med Sch, Adelaide, SA, Australia

来源：

BMC NEPHROLOGY | 2022年 / 23卷 / 01期

关键词：

Fabry disease; Screening; Chronic kidney disease; QUALITY-OF-LIFE; ENZYME REPLACEMENT THERAPY; HEMODIALYSIS-PATIENTS; NATURAL-HISTORY; RENAL-DISEASE; DIALYSIS; FEMALES; MALES;

D O I：

10.1186/s12882-022-02805-8

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%. Methods: We undertook a cross-sectional study employing a cascade screening strategy for Fabry Disease amongst 3000 adult, male and female patients affected by CKD stage 1-5D/T at public, specialty renal practices within participating Queensland Hospital and Health Services from October 2017 to August 2019. A multi-tiered FD screening strategy, utilising a combination of dried blood spot (DBS) enzymatic testing, and if low, then lyso-GB3 testing and DNA sequencing, was used. Results: Mean (SD) age was 64.0 (15.8) years (n = 2992), and 57.9% were male. Eight participants withrew out of the 3000 who consented. Of 2992 screened, 6 (0.20%) received a diagnosis of FD, 2902 (96.99%) did not have FD, and 84 (2.81%) received inconclusive results. Of the patients diagnosed with FD, mean age was 48.5 years; 5 were male (0.29%) and 1 was female (0.08%); 4 were on kidney replacement therapy (2 dialysis and 2 transplant); 3 were new diagnoses. Conclusions: Estimated overall FD prevalence was 0.20%. Screening of the broader CKD population may be beneficial in identifying cases of FD.

引用

页数：7

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