Hemizygous Fabry disease associated with IgA nephropathy: a case report.
We present a 22-year-old male patient who showed both classical Fabry disease and IgA nephropathy. He had proteinuria (1.5 g/day), hypohidrosis and neuralgia with fever. Serum creatinine and blood urea nitrogen were 0.9 mg/dL and 11.4 mg/dL, respectively. Renal biopsy showed strikingly vacuolated podocytes and tubular epithelium cells. Myelin-like bodies were detected in podocytes, mesangial cells, endothelial cells and tubular epithelium cells by electron microscopy. On immunofluorescence microscopy, IgA and C3 deposits were detected in mesangial areas. From these results and a markedly low level of alpha-galactosidase A activity, this patient was diagnosed as having classical Fabry disease and IgA nephropathy.
Shimohata
Homare
H
Department of Nephrology, Tokyo Medical University, Ibaraki Medical Center, Ibaraki, Japan.
Yoh
Keigyou
K
Takada
Kenji
K
Tanaka
Hiroaki
H
Usui
Joichi
J
Hirayama
Kouichi
K
Kobayashi
Masaki
M
Yamagata
Kunihiro
K
D000328:Adult; D001706:Biopsy; D003176:Complement C3 / Q000378:metabolism; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D005920:Glomerular Mesangium / Q000378:metabolism / Q000473:pathology; D005922:Glomerulonephritis, IGA / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007070:Immunoglobulin A / Q000378:metabolism; D008297:Male; D000519:alpha-Galactosidase / Q000378:metabolism
D003176:Complement C3; D007070:Immunoglobulin A; D000519:alpha-Galactosidase