Table 5.
Pathological findings in MYH9 syndrome
| References | Age (years) | Sex | MYH9 mutation | SCr (mg/dL) | Proteinuria | Light microscopy | Electron microscopy |
|---|---|---|---|---|---|---|---|
| Epstein et al. [4] | 13 | F | R702C | 0.6 | 0.2 g/day | Segmental and global glomerulosclerosis, mesangial proliferation | Not performed |
| Clare et al. [17] | 15 | M | ND | 1.2 | 14 g/day | Endocapillary proliferation, mesangial expansion, adhesions to Bowman's capsule, and moderate interstitial fibrosis | GBM thickening, lamellation |
| Peterson et al. [5] | 23 | M | ND | ESRD | + | Preserved glomeruli with increased mesangial cell number and matrix | GBM thickening, focal areas of attenuation; focal podocyte foot process effacement |
| Túri et al. [18] | 14 | M | ND | 0.8 | 1.6 g/day | Segmental glomerulosclerosis and diffuse mesangial proliferation | Focal GBM thickening and splitting, foot process effacement |
| Iyori et al. [19] | 14 | F | ND | NS | + | Mild tubular atrophy | Mesangial interposition, GBM splitting |
| Moxey-Mims et al. [20] | 7 | M | ND | 0.6 | 1.6 g/day | Mild mesangial expansion | Mesangial cell proliferation and matrix expansion, GBM with variable thickening and basket-weave splitting |
| Naito et al. [21] | 16 | F | ND | NS | + | Normal | GBM thickening and reticulation of the lamina densa |
| Naito et al. [21] | 12 | F | ND | Normal | 2 g/day | Mesangial proliferation | Partial splitting of GBM lamina densa |
| Naito et al. [21] | 15 | M | ND | NS | 4+ | Segmental glomerulosclerosis | GBM thinning |
| Ghiggeri et al. [22] | 49 | M | D1424H | 5 | + | Glomerulosclerosis | Non-specific |
| Ghiggeri et al. [22] | 24 | F | D1424H | NS | + | Normal | Focal segmental foot process effacement |
| Alhindawi et al. [23] | 10 | M | ND | eGFR 65 mL/min/1.73 m2 | + | Segmental and global glomerulosclerosis | Not performed |
| Yap et al. [24] | 17 | M | R702H | 2.3 | 4.5 g/day | Global glomerulosclerosis | Not performed |
| Sekine et al. [12] | 9 | F | R702C | 0.4 | 1+ | Mild mesangial cell proliferation and expansion | Mesangial cell proliferation and matrix expansion, focal foot process effacement, focal GBM thickening |
| Han et al. [13] | 28 | M | D1424N | 0.8 | + | FSGS | Not performed |
| Han et al. [13] | 22 | M | S96L | 3 | + | FSGS | Focal GBM thickening |
| Han et al. [13] | 1.2 | M | S96L | 0.3 | + | Mild mesangial expansion | Focal GBM thickening |
| Hao et al. [25] | 58 | M | E1841K | 1.3 | 1.56 g/day | FSGS, IgM deposits | Not performed |
| Sun et al. [26] | 43 | M | E1945X | Abnormal | NS | FSGS, mesangial hyperplasia, matrix proliferation | Foot process fusion, microvillus hyperplasia |
| Min et al. [27] | 11 | F | C2104 | Normal | + | Diffuse proliferative mesangial glomerulonephritis | Not performed |
| Min et al. [27] | 13 | M | C287T | NS | + | Diffuse proliferative mesangial glomerulonephritis | Not performed |
| Oh et al. [28] | 14 | F | E1841K | 0.7 | 0.96 g/day | 4 glomeruli with global sclerosis out of 21, others normal | Foot process effacement |
| Present study | 18 | M | R718W | 1.3 | >3 g/day | FSGS, intimal fibrosis of arteries, arteriolar hyalinosis | Not performed |
Pathological features of all the reported kidney biopsies, in our knowledge, of patients with an MYH9-RD diagnosis. Partly based on the review from Kopp [16]. Predicted change in the mature protein based on genetic assessment of the mutations.
M, male; F, female; NS, not stated.