Author/Authors :
Liu, Ying Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Xie, Hua Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Lin, Hongli Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Chen, Shuni Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Wang, Weidong Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Zhao, Guangben Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China , Zhang, Xu Department of Nephrology - the First Hospital of Dalian Medical University, Dalian, China
Abstract :
A 21-year-old man with no family history or characteristic symptoms
of Fabry disease presented with proteinuria. Histological and
immunofluorescent analysis of kidney tissue collected revealed
stage 1 membranous nephropathy. Electron microscopy of the
same tissue revealed a large number of myeloid bodies (zebra
bodies) in the glomerular epithelial cytoplasm and a mild irregular
thickening of basement membrane. A diagnosis of Fabry disease
was supported by the low α-galactosidase A activity detected in the
patient’s plasma, and confirmed by the detection of a pathogenic
homozygous mutation in the α-galactosidase A gene. Therefore,
the final diagnosis was of coexistent Fabry disease and stage 1
membranous nephropathy. This is the first case study reporting
the coexistence of Fabry disease and membranous nephropathy.
Our results emphasize the importance of electron microscopy in
Fabry disease diagnosis.
Keywords :
genetics , alpha-galactosidase A , membranous nephropathy , Fabry disease
