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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. Fabry disease, membranous nephropathy, alpha-galactosidase A, genetics
INTRODUCTION
Fabry disease is an X-linked inherited disorder caused by mutations of the α-galactosidase A encoded by the α-galactosidase A (GLA) gene. Deficient α-galactosidase A activity results in progressive globotriaosylceramide accumulation in the lysosomes of a variety of organs including the kidney. Fabry nephropathy manifests as proteinuria and kidney dysfunction, and half of the patients develop end-stage renal disease.1,2 A diagnosis of Fabry disease could be confirmed by the analysis of α-galactosidase A activity in the affected males. Females may have normal activity of the enzyme, and therefore, they should be identified through pathologic examination and genetic analysis.3
Fabry disease may coexist with various glomerular diseases, including immunoglobulin A nephropathy, crescentic glomerulonephritis, thin basement membranous nephropathy, lupus nephritis, and rheumatoid arthritis-associated renal diseases.4-10 However, concurrent Fabry disease and membranous nephropathy has not been previously reported. Here, we report a patient with combined hemizygous Fabry disease and stage 1 membranous nephropathy.
CASE REPORT
A 21-year-old man was referred with proteinuria in 2014. He denied any family history of genetic disorders or any special medication history. The initial physical examinations found no signs or symptoms of edema, neuralgia, rash, or gastrointestinal discomfort, and his blood pressure was 150/90 mm Hg. Fundus examination was normal. The patient's laboratory findings...