Clinical and pathological characteristics of Fabry disease combined with IgA nephropathy in Chinese patients .
OBJECTIVE
To improve diagnosis and treatment, we characterized Fabry disease combined with IgA nephropathy and its response to treatment clinically and pathologically in Chinese patients.


METHODS
Clinical and pathological characteristics of 6 Chinese patients with renal biopsy-proven Fabry disease combined with IgA nephropathy were retrospectively analyzed.


RESULTS
There were 4 males and 2 females in this study. All of the 6 patients presented with proteinuria. Microscopic hematuria was observed in case 4. Extrarenal symptoms included: acroparesthesia in case 1, 2, and 6, hypohidrosis in case 6 and angiokeratomas with hearing loss in case 3. By light microscopy, podocyte distension, with vacuolization, mesangial expansion, and interstitial lesions were found in all 6 cases; and focal segmental glomerulosclerosis was observed in 3 cases. Immunofluorescence microscopy showed deposition of IgA or predominant IgA with C3 in the mesangium. By electron microscopy, myelin figures and/or zebra bodies as well as electron-dense materials, were observed in the mesangium in the 6 cases. After admission and treatment with angiotensin converting enzyme inhibitors (ACEI) or angiotensin receptor blocker (ARB) together with immunosuppressant, glomerular filtration rate (GFR) decreased in 3 cases while it increased in the other 3 without statistical differences.


CONCLUSIONS
The clinical and pathological features of Fabry disease combined with IgA nephropathy are diverse. Therefore, it is important to combine family history, clinical manifestations, α-galactosidase A activity and pathological features, especially ultrastructural changes, to improve the diagnosis and treatment of the disease. .
Nannan
N
Yang
Xia
X
Wang
Feng
F
Xu
Caihong
C
Zeng
Jinquan
J
Wang
Zhihong
Z
Liu
D000328:Adult; D057911:Angiotensin Receptor Antagonists / Q000627:therapeutic use*; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use*; D044466:Asian People; D000795:Fabry Disease / Q000150:complications / Q000378:metabolism*; D005260:Female; D005919:Glomerular Filtration Rate; D005920:Glomerular Mesangium / Q000473:pathology / Q000648:ultrastructure; D005922:Glomerulonephritis, IGA / Q000150:complications / Q000188:drug therapy*; D005923:Glomerulosclerosis, Focal Segmental / Q000188:drug therapy; D006417:Hematuria / Q000209:etiology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D050199:Podocytes / Q000473:pathology / Q000648:ultrastructure; D011507:Proteinuria / Q000209:etiology; D012189:Retrospective Studies; D055815:Young Adult; D000519:alpha-Galactosidase / Q000378:metabolism*
D057911:Angiotensin Receptor Antagonists; D000806:Angiotensin-Converting Enzyme Inhibitors; D007166:Immunosuppressive Agents; D000519:alpha-Galactosidase