1. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late‐onset Fabry mutation (IVS4 + 919G→A)
- Author
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Dau Ming Niu, Ju Hui Hsu, Huey Jane Ho, Pi Chang Lee, Hsiang-Yu Lin, Hsiao Chi Yu, Po Kang Lin, Shuan-Pei Lin, Cheng Hung Huang, Kah Wai Chong, Shih Jen Chen, Kang Hsiang Cheng, and Chuan Chi Chiang
- Subjects
Adult ,Male ,China ,medicine.medical_specialty ,Eye Diseases ,DNA Mutational Analysis ,Taiwan ,Diagnostic Techniques, Ophthalmological ,Urinalysis ,Left ventricular hypertrophy ,Gastroenterology ,Young Adult ,Asian People ,Internal medicine ,Genetics ,Albuminuria ,Humans ,Medicine ,Genetic Predisposition to Disease ,Cornea verticillata ,Genetics (clinical) ,Aged ,Aged, 80 and over ,Newborn screening ,business.industry ,Enzyme replacement therapy ,Clinical Enzyme Tests ,Middle Aged ,medicine.disease ,Fabry disease ,Surgery ,Phenotype ,Echocardiography ,alpha-Galactosidase ,Mutation ,Fabry Disease ,Female ,Hypertrophy, Left Ventricular ,Microalbuminuria ,medicine.symptom ,Age of onset ,business ,Biomarkers - Abstract
Newborn screening for Fabry disease in Taiwan Chinese has revealed a high incidence of the late-onset GLA mutation IVS4 + 919G→A (∼1 in 1,500–1,600 males). We studied 94 adults with this mutation [22 men, 72 women; mean age: men 57.8 ± 6.0 (range 42–68), women 39.1 ± 14.1 years (range 19–82)]. Plasma α-galactosidase A activity assay was 10.4 ± 11.2% of normal in the men and 48.6 ± 19.5% of normal in the women. Echocardiography in 90 of the adults revealed left ventricular hypertrophy (LVH) in 19 (21%), including 14 of 21 men (67%) and 5 of 69 women (7%). Microalbuminuria, based on the urine albumin-to-creatinine ratio measured on at least two occasions, was present in 17 of 86 subjects (20%) (men: 5/20, 25%; women 12/66, 18%). At least one ocular manifestation consistent with Fabry disease was present in 41 of 52 subjects (79%) who underwent ophthalmologic examination, including 8 (15%) with conjunctival vessel tortuosity, 15 (29%) with cornea verticillata, 10 (19%) with Fabry cataract, and 34 (65%) with retinal vessel tortuosity. Among subjects over 40 years of age, men were more likely than women to have LVH [14/21 (67%) vs 5/25 (20%), p < 0.001]. Cardiovascular, renal and ocular abnormalities are highly prevalent in adult Taiwan Chinese subjects with the Fabry mutation IVS4 + 919G→A. Our findings contribute to the limited understanding of the course of this late-onset disease variant and underscore the need for close follow up in such patients.
- Published
- 2010