We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
- Authors
Yosep Chong; Minyoung Kim; Eun Sil Koh; Seok Joon Shin; Ho-Shik Kim; Sungjin Chung
- Abstract
Background: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean family with predominant renal manifestations of the disease. Case presentation: A 24-year-old man who wanted to donate a kidney to his 28-year-old brother with end-stage renal disease of unknown cause was evaluated. The 24-year-old man underwent percutaneous renal biopsy because of an accidentally found proteinuria. Electron microscopy of his renal biopsy showed numerous electron-dense multilamellar inclusions in the epithelial cytoplasm, typical for Fabry disease. Clinical and laboratory evaluation including the assessment of GLA enzyme activity and direct DNA sequencing in four members of the family were performed. Renal biopsy findings in the two affected male patients were described. Re-evaluation of a renal biopsy specimen of his 28-year-old brother obtained when he was diagnosed with renal failure revealed a very focal area of suspicious multilamellated structures in the Bowman’s space. DNA sequencing on the young man, his brother, and his mother revealed a novel GLA gene mutation, c.263A > G (p.Tyr88Cys). The three all showed decreased α-galactosidase A activity. Conclusion: A novel GLA mutation, c.263A > G (p.Tyr88Cys), was found in a Korean family with predominant renal manifestations of Fabry disease.
- Subjects
SOUTH Korea; ALPHA-galactosidase; GENETIC mutation; ANGIOKERATOMA corporis diffusum; HEMODIALYSIS; KIDNEY diseases; BIOPSY; PROTEINURIA; PUBLIC health; GENETICS
- Publication
BMC Medical Genetics, 2016, Vol 17, p1
- ISSN
1471-2350
- Publication type
Case Study
- DOI
10.1186/s12881-016-0338-7