Table 2 Clinical and laboratory data of 10 cases with nephrotic syndrome in Fabry disease patients
Ref | Year | Age | Sex | Urinary protein levels | Light microscopy | Electron microscopy | Alpha-galactosidase activity | Others |
|---|---|---|---|---|---|---|---|---|
Reyes Marin FA, et al. [5] | 1991 | 22 | M | 7-12 g /day | Numerous vacuolated epithelial cells in the glomerular wall | Laminated bodies with myelin-like configuration | Serum 0.18 nmol/h/ml (Reference range > 12.8 nmol/h/ml) | Family history (−) GLA gene mutation: unknown Renal symptoms alone |
Majima K, et al. [6] | 1992 | 36 | F | 2-4 g /day | Diffuse membranous glomerulonephritis, and vacuolization in epithelial cells Lupus nephritis(V) | Epithelial cell cytoplasm containing osmiophilic multilamellar lipoid bodies | Leukocyte 31.3 nmol/h/mg (Reference range 21.2~53.1 nmol/h/mg) Culture skin fibroblasts 3.1 nmol/h/mg (Reference range 18.3~29.5 nmol/h/mg) | Family history (−) GLA gene mutation: unknown SLE (+): facial erythema (+), arthritis (+), kidney damage (+), anti-DNA antibody (+), anti-nuclear antibody (+) Urine ceramide trihexoside (+) Immunofluorescence: IgG (+), IgM (+), C3(+), C1q(+) |
Thamboo TP, et al. [7] | 2004 | 30 | F | 10.8 g /day | Segmental vacuolar changes in the visceral epithelial cells | Myelin-like bodies within the podocytes and tubular epithelial cells | Serum enzyme activity is normal (data not shown) | Family history (−) GLA gene mutation: unknown Urine ceramide trihexoside (+) Immunofluorescence: negative Response to steroid: steroid-dependent Serum Cr level: 0.47 mg/dl |
Inagaki S, et al. [8] | 2005 | 15 | F | 4.0 g/day | Minor glomerular abnormalities | Numerous laminated bodies in glomerular epithelial cells | Culture skin fibroblasts 68.4 nmol/h/mg (Normal subjects: 49.2 nmol/h/mg) | Family history (−) GLA gene mutation: unknown Urine ceramide trihexoside (+) Immunofluorescence: staining of skin fibroblasts with anti- ceramide trihexoside antibody positive |
Chinen S, et al. [9] | 2005 | 16 | F | Nephrotic range | Focal segmental glomerulosclerosis | Numerous myeloid bodies in the glomerular epithelium | Leukocyte 36.1 nmol/mg P/h (Reference range: 49.8~116.4 nmol/mg P/h) | Family history (+): father, elder sister, younger sister GLA gene mutation: unknown Immunofluorescence: negative Response to steroid: complete remission Serum Cr level: 8.7 mg/dl (pre) 0.9 mg/dl (post steroid therapy) |
Fischer EG, et al. [10] | 2006 | 39 | M | 2-4 g/day | Vacuolization of the podocyte cytoplasm and variable glomerular sclerosis | Myelin-like bodies within the podocyte cytoplasm | No data | GLA gene mutation: unknown Immunofluorescence: negative |
73 | F | 3.6 g/day | Increased mesangial matrix with early nodule formation and peri-glomerular fibrosis | Myelin-like bodies within the podocyte cytoplasm | No data | GLA gene mutation: unknown Type II diabetes mellitus (+) Immunofluorescence: negative | ||
Zarate YA, et al. [11] | 2010 | 16 | M | 3.5 g/gCr | Prominent podocytes with a bubbly, clear, foamy cytoplasm | Abundant lamellated myelin-like inclusion in the podocyte cytoplasm Foot process fusion | Plasma 0.2 U/ml (Reference range: no information) Leukocyte 0.6 U/mg (Reference range: no information) | Family history (+) GLA gene mutation: W226X Immunofluorescence: negative Response to steroid: Complete remission Serum Cr level: 2.7 mg/dl (pre) 0.6 mg/dl (post steroid therapy) |
Trimarchi H, et al. [12] | 2013 | 37 | M | 6.8 g/day | Focal segmental glomerulosclerosis | Electron-dense laminated lipids in the cytoplasm of a podocyte | Serum or leukocyte 0.7 ng/ml (Reference range: no information) | GLA gene mutation: c.98A > G (D33G) Response to steroid: first therapy (Incomplete remission type I), second therapy (Incomplete remission type II) |
Fujisawa H, et al. | 2019 | 67 | M | 11.13 g/gCr | Segmental sclerosis, vacuolization, and foamy changes in podocytes | Abundant myelin-like inclusions in the podocyte cytoplasm | Leukocyte 1.0 nmol/h/mg protein (Reference range: 20–80 nmol/h/mg protein) | Family history (−) GLA gene mutation: M296I Urinary mulberry bodies (+) Plasma Lyso-GB3: 7.4 nmol/L (Reference range; 0.14–0.75 nmol/L) Immunofluorescence: negative Response to steroid: Complete remission Serum Cr level: 2.7 mg/dl (pre) 0.6 mg/dl (post steroid therapy) |