1.Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy.
He-jun LIU ; Ke-jiang CAO ; Cheng-rang LI ; Jian DAI ; Ji-zheng MA ; Yong-hong YONG ; Wei SUN
Chinese Journal of Cardiology 2006;34(2):143-147
OBJECTIVETo screen gene mutation in alpha-galactosidase A (alpha-Gal A) in a nonconsanguineous Chinese family with Fabry disease (FD) with clinical manifestations similar to hypertrophic cardiomyopathy (HCM).
METHODSMutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-377XL automated DNA sequencer. DNA analysis of alpha-Gal A gene and physical and clinical examinations were performed in a female proband and in her relatives (15 subjects in total).
RESULTSThree hemizygotes and 6 heterozygotes were diagnosed for FD by the alpha-Gal A gene analysis with a missense mutation in exon 5 of the alpha-Gal A sequence, leading to a TGG32TGA substitution, which may induce the absent of tryptophan's translation (corresponded to TGG) by the terminator codon TGA. Six patients in the family were revealed as HCM by echocardiography.
CONCLUSIONSPresent results show that it is important to differentiate FD from other causes of hypertrophy in patients with cardiac hypertrophy. Screening for alpha-Gal A gene mutations in patients with FD and in their relatives could help to identify all suspected cases within the families.
Adolescent ; Adult ; Cardiomyopathy, Hypertrophic ; diagnosis ; Child ; DNA Mutational Analysis ; Fabry Disease ; diagnosis ; genetics ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; alpha-Galactosidase ; genetics
2.A Case of Fabry's Disease with Congenital Agammaglobulinemia.
Ki Yeol LEE ; Su Young JEON ; Jin Woo HONG ; Sung Eun KIM ; Ki Hoon SONG ; Young Hun KIM ; Ki Ho KIM
Journal of Korean Medical Science 2011;26(7):966-970
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.
Adult
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Agammaglobulinemia/congenital/*genetics/pathology
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Chromosomes, Human, X
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Fabry Disease/diagnosis/*genetics
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Humans
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Kidney/pathology
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Male
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Microscopy, Electron
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Sequence Analysis, DNA
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Skin/pathology
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alpha-Galactosidase/genetics/metabolism
3.Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea.
Jeong Yup KIM ; Young Youl HYUN ; Ji Eun LEE ; Hye Ran YOON ; Gu Hwan KIM ; Han Wook YOO ; Seong Tae CHO ; No Won CHUN ; Byoung Chunn JEOUNG ; Hwa Jung KIM ; Keong Wook KIM ; Seong Nam KIM ; Yung A KIM ; Hyun Ah LEE ; Jong Young LEE ; Yung Chun LEE ; Hun Kwan LIM ; Keong Sik OH ; Seong Hwan SON ; Beong Hee YU ; Kyeong So WEE ; Eun Jong LEE ; Young Ki LEE ; Jung Woo NOH ; Seung Jung KIM ; Kyu Bok CHOI ; Suk Hee YU ; Heui Jung PYO ; Young Joo KWON
The Korean Journal of Internal Medicine 2010;25(4):415-421
BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS: A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. RESULTS: Twenty-nine patients had elevated serum GL3 levels. The alpha-GaL A activity was determined for the 26 patients with high GL3 levels. The mean alpha-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased alpha-GaL A activity. Among the group with high GL3 levels, 15 women had a alpha-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and alpha-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. CONCLUSIONS: Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.
Adult
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Aged
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Fabry Disease/blood/*diagnosis
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Female
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Humans
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Kidney Failure, Chronic/blood/*therapy
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Male
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Middle Aged
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*Renal Dialysis
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Trihexosylceramides/*blood
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alpha-Galactosidase/genetics/metabolism
4.Fabry disease previously diagnosed as Henoch-Schonlein purpura.
Ji Hyeong KIM ; Dong Hoon HAN ; Moo Yong PARK ; Soo Jeong CHOI ; Jin Kuk KIM ; Seung Duk HWANG ; So Young JIN
The Korean Journal of Internal Medicine 2015;30(6):925-927
No abstract available.
Biopsy
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DNA Mutational Analysis
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*Diagnostic Errors
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Enzyme Replacement Therapy
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Fabry Disease/complications/*diagnosis/enzymology/genetics
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Genetic Predisposition to Disease
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Glomerulonephritis, IGA/diagnosis/etiology
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Humans
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Male
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Middle Aged
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Mutation
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Phenotype
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Predictive Value of Tests
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Purpura, Schoenlein-Henoch/*diagnosis
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alpha-Galactosidase/genetics/therapeutic use