
Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study
Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch
Journal of Biomedical Research ›› 2017, Vol. 31 ›› Issue (1) : 17-24.
Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study
We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity. There were no definitive pathogenic mutations observed in the molecular study. However, four patients revealed a novel nucleotide variant at c.1 -10 C>T, which was identified as a benign variant following screening in the normal population. In conclusion, the α-GAL A assay utilizing dried-blood spots revealed a significant false positive rate. There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology.
Fabry disease / end-stage renal disease (ESRD) / Alpha-galactosidase A (α-GAL A)
Tab.1 The nucleotide sequences of the primers used for DNA sequencing of GLA in this study |
Primer names | Forward (5′ → 3′) | Reverse (5′ → 3′) |
---|---|---|
E1 | GGTTAGCGGAACGTCTTACG | ACCCAAACACATGGAAAAGC |
E2 | CCACACTATTACTGGGTTGGAA | GTTGGGATTACAGGCGTGAG |
E3 | CCCCCAATACCTGGTGAAGT | CCCCCAATACCTGGTGAAGT |
E4 | CAGACTGAACCCCATCTCAAA | TGGGAGAGATGGTAGGATGA |
E5 | TGGCCTACTTCTGAAGCAAA | AACCACTTTCCACAGCATCC |
E6 | GGATGCTGTGGAAAGTGGTT | GGGCCATCTGAGTTACTTGC |
E7 | CCAAACTAACAGGGCCACTT | CTCCCAAAGTGCTGGGATTA |
Fig.3 The novel nucleotide variant c.1 -10 C>T found in this study.A: a major C allele similar to one in the NCBI database, B: a male hemizygous T allele from a subject with a positive α-GAL A screening, and C: a female heterozygous C/T allele found in three subjects who screened positive in the biochemical assay. |
Tab.2 Summary of Fabry disease screening studies in chronic kidney disease patients in various countries |
Study countries | Gender | Types of assay | No. of patients with Fabry disease | Prevalence (%) | References |
---|---|---|---|---|---|
Japan | M and F | plasma | 2/722 | 0.28 | Utsumi et al., 2000 |
Japan | M | plasma, WBC, genetics | 6/514 | 1.17 | Nakao et al., 2003 |
Holland | M | plasma | 1/508 | 0.20 | Linthorst et al., 2003 |
Austria | M and F | DBS, WBS, genetics | 4/2480 | 0.16 | Kotanko et al., 2004 |
France | M and F | WBC, genetics | 1/106 | 0.94 | Bekri et al., 2005 |
Japan | M | plasma, genetics | 1/450 | 0.22 | Ichinose et al., 2005 |
Japan | M and F | plasma, WBC, genetics | 5/696 | 0.72 | Tanaka et al., 2005 |
Czech R. | M and F | DBS, WBC | 5/3370 | 0.15 | Merta et al., 2007 |
Lithuania | M | DBS | 0/536 | 0 | Maslauskiene et al., 2007 |
Canada | M | plasma, WBC | 0/499 | 0 | Andrade et al., 2008 |
Brazil | M | DBS, plasma | 2/558 | 0.36 | Porsch et al., 2008 |
Holland | M and F | plasma, genetics | 3/922 | 0.33 | Terryn et al., 2008 |
Spain | M and F | DBS, genetics | 5/911 | 0.55 | Gaspar et al., 2010 |
UK | M | DBS, plasma, WBC | 0/155 | 0 | Wallin et al., 2011 |
Japan | M and F | DBS, genetics | 3/933 | 0.32 | Nishino et al., 2012 |
Japan | M | serum, genetics | 2/1080 | 0.19 | Doi et al., 2012 |
Turkey | M | plasma, genetics | 2/808 | 0.25 | Kalkan Ucar et al., 2012 |
Japan | M | plasma, genetics | 3/1453 | 0.21 | Maruyama et al., 2013 |
Turkey | M and F | DBS, genetics | 2/1136 | 0.18 | Okur et al., 2013 |
Lebanon | M | plasma | 0/275 | 0 | Kabalan et al., 2013 |
Spain | M and F | DBS, genetics | 11/3650 | 0.30 | Hererra and Miranda, 2014 |
Thailand | M and F | DBS, genetics | 0/142 | 0 | Trachoo et al., 2017 (this study) |
M: male; F: female; DBS: dried blood spots; WBC: white blood cells. |
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