Abstract
BackgroundFabry 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 presentationA 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 multi-lamellar 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.ConclusionA novel GLA mutation, c.263A > G (p.Tyr88Cys), was found in a Korean family with predominant renal manifestations of Fabry disease.
Highlights
Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency
Fabry disease (FD, OMIM#301500) is a rare, progressive, X-linked, and multisystemic disorder characterized by α-galactosidase deficiency resulting from mutations in the α-galactosidase (GLA, OMIM*300644) gene at Xq22.1 [1, 2]
Patient 1 had an unremarkable medical history without medications. His assessment was overall satisfactory except a proteinuria of 871 mg/day that was discovered incidentally
Summary
Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. Conclusion: A novel GLA mutation, c.263A > G (p.Tyr88Cys), was found in a Korean family with predominant renal manifestations of Fabry disease. We identified a novel mutation, Tyr88Cys, in GLA in a Korean family with late-onset FD variant. Individual 4, the second son of patient 3, showed normal results for all laboratory findings, including renal function.
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