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Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
Joint Authors
Kowalewska, Jolanta
Vanga, Amaresh R.
Schrier Vergano, Samantha A.
McCune, Thomas R.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-09-19
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region.
We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure.
He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease.
An alpha-galactosidase level was found to be 21 nm/hr/mg (normal range 50–150 nm/hr/mg).
Genetic studies revealed a missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A > C, p.N228H) that had not been previously associated with Fabry disease.
The same variant was detected in two additional family members.
The pathologic findings, clinical features, and low alpha-galactosidase level suggest that the c.682 A > C variant is associated with Fabry disease.
American Psychological Association (APA)
Vanga, Amaresh R.& Schrier Vergano, Samantha A.& Kowalewska, Jolanta& McCune, Thomas R.. 2020. Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family. Case Reports in Nephrology،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148843
Modern Language Association (MLA)
Vanga, Amaresh R.…[et al.]. Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family. Case Reports in Nephrology No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1148843
American Medical Association (AMA)
Vanga, Amaresh R.& Schrier Vergano, Samantha A.& Kowalewska, Jolanta& McCune, Thomas R.. Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family. Case Reports in Nephrology. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1148843
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148843