Table 1.
Histopathologic findings in biopsies from patients with ACTN4 mutationsa
| Patient Data |
Glomerular Histopathology |
Histopathologic Features of Segmental Sclerosing Lesions |
Glomerular Immunofluorescence |
Tubulointerstitial and Vascular Histopathology |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ID No. | Age (yr) | Gender | SCr (mg/dl) | Urine Prot. (g/d) | Total Glom. | GS (% [n]) | SS (% [n]) | GH (% [n]) | Mes. Expan. | No. Examined | Perihilar Lesion | Tip Lesion | Cellular Lesion | Coll. Les. | Columbia Class. | Hyalin | Reabs. Gran. | Juxtamed. | IgA | IgG | IgM | C3 | C1q | Fibrinogen | Interstitial Fibrosis/Tubular Atrophy (%) | Tubular Distension/Cysts | Tubular Reabs. Gran. | Foam Cells | Interstitial Inflammation | Hyaline Casts | Vascular Sclerosis |
| FSX-233 | 23 | M | 16 | 0 | 6(1) | 13(2) | 1+ | 1 | 1/1 | 0/1 | 1 | 0 | Cellular | 0 | 0 | 1/1 | 0 | 0 | 0 | 0 | 0 | 15 | 1+ | 0 | 0 | 1+ | 0 | 0 | |||
| FSA-1622 | 26 | M | Proteinuria | 15 | 7(1) | 20(3) | 20(3) | 1+ | 3 | 1/1 | 1/1 | 0 | 0 | NOS | 1 | 2 | 2/3 | 1+ DSPM | 1+ DSPM | 1+ DSPM | 1+ DSPM | 1+ DSPM | 0 | 10 | 1+ | 0 | 0 | 1+ | 0 | 2+ | |
| FSX-17 | 33 | F | Normal | Proteinuria | 15 | 7(1) | 13(2) | 0 | 1+ | 2 | 2/2 | 0/2 | 0 | 0 | Perihilar | 2 | 1 | 1/2 | 2+ DGM | 0 | 0 | 0 | 2+ DGM | 30 | 0 | 0 | 0 | 2+ | 0 | 2+ | |
| FGCI-1111 | 20 | F | 8.9 | 39 | 8(3) | 16(6) | 8(3) | 1+ | 6 | 3/4 | 1/4 | 0 | 0 | Perihilar | 2 | 2 | 2/2 | 0 | 0 | 3+ FSPM | 3+ FSPM | 3+ FSPM | 1+ FSPM | 10 | 1+ | 1+ | 0 | 1+ | 1+ | 1+ | |
| FSXL-201 | 20 | M | 0.9 | 1.2 | 24 | 8(2) | 21(5) | 0 | 0 | 0b | 0 | 0 | 2+ FS | 2+ FS | 0 | 10 | 0 | 0 | 0 | 1+ | 0 | 0 | |||||||||
| FSX-18 | 29 | M | Normal | 2.5 | 39 | 12(5) | 3(1) | 0 | 0 | 1 | 1/1 | 0/1 | 0 | 0 | Perihilar | 1 | 0 | 0/0 | 1+ DSP | 0 | 0 | 0 | 1+ DSP | 10 | 0 | 0 | 0 | 1+ | 0 | 1+ | |
| FSA-192 | 32 | M | 3.2 | Proteinuria | 12 | 16(2) | 16(2) | 0 | 1+ | 0b | 30 | 0 | 0 | 0 | 1+ | 1+ | 0 | ||||||||||||||
| FSX-14 | 40 | M | Moderate | 52 | 19(10) | 2(1) | 2(1) | 1+ | 1 | 0/0 | 0/0 | 0 | 0 | NOS | 0 | 0 | 1/1 | 1+ DGM | 0 | 2+ FGPM | 2+ FGPM | 0 | 40 | 0 | 0 | 0 | 2+ | 1+ | 2+ | ||
| FSX-12 | 56 | F | Normal | Proteinuria | 25 | 20(5) | 8(2) | 0 | 1+ | 0b | 0 | 0 | 1+ FPM | 1+ FPM | 0 | 10 | 0 | 0 | 1+ | 1+ | 1+ | 2+ | |||||||||
| FSX-16 | 35 | F | Normal | 6.7 | 40 | 20(8) | 5(2) | 0 | 0 | 2 | 0/0 | 0/0 | 0 | 0 | NOS | 2 | 0 | 0/0 | 0 | 0 | 0 | 0 | 0 | 15 | 0 | 0 | 0 | 1+ | 0 | 1+ | |
| FGCI-111 | 29 | F | 4.8 | 6.6 | 40 | 53(21) | 15(6) | 20(8) | 2+ | 5 | 2/2 | 0/2 | 0 | 0 | NOS | 2 | 4 | 0/0 | 0 | 0 | 3+ FSPM | 3+ FSPM | 3+ FSPM | 0 | 50 | 2+ | 2+ | 0 | 2+ | 2+ | 0 |
| FGCI-1112 | 16 | F | Proteinuria | 19 | 74(14) | 16(3) | 10(2) | 2+ | 2 | 0/0 | 0/0 | 0 | 0 | NOS | 2 | 1 | 0/0 | 0 | 0 | 3+ DSPM | 3+ DSPM | 2+ FSPM | 3 + DSPM | 60 | 1+ | 2+ | 1+ | 2+ | 1+ | 0 | |
Patient data presented in order of increasing proportion of globally sclerosed glomeruli. SCr, serum creatinine concentration; Urine Prot., descriptive or quantitative assessment of urine protein at time of biopsy; Total Glom, total number of glomeruli in biopsy; GS, global sclerosis; SS, segmental sclerosis; GH, glomerular hypertrophy. Mesangial expansion (Mes. Expan.) graded on a scale of 0 (no involvement) to 4+ (severe involvement). Number of perihilar and tip lesions and lesions involving juxtamedullary glomeruli presented as fraction of number of glomeruli for which this could be determined on the basis of the presence of morphologic landmarks; other characteristics of segmentally sclerosing lesions expressed as total number exhibiting the described characteristic. Coll. Les., collapsing lesion. Columbia Class., Columbia FSGS classification system variant (see references1,2); Reabs. Gran., protein reabsorption granules in epithelial cells; Juxtamed., juxtamedullary glomeruli. Immunofluorescence findings derived from description in written pathology reports; findings graded on a scale of 0 (no involvement) to 4+ (severe involvement). Codes for immunofluorescence findings: D, diffuse; F, focal; G, global; S, segmental; P, peripheral capillary wall; M, mesangial. Interstitial fibrosis/tubular atrophy expressed as percentage of tissue involved; all other tubulointerstitial findings graded on a scale of 0 (no involvement) to 4+ (severe involvement). Missing entries indicate no data available.
No segmentally sclerosed glomeruli observed in specimen available for examination.