Table 1.
LMNA mutations associated with pathologic findings of focal segmental glomerulosclerosis.
| N | Literature, year of publication | LMNA mutation | Sex | Age at diagnosis of kidney disease (years) | Clinical features | Kidney parameters at the time of biopsy | Remarks | ||
|---|---|---|---|---|---|---|---|---|---|
| Progeroid features | Lipodystrophy | Others | |||||||
| 1 | Rankin et al. (40), 2008 | c.1930C > T (p.Arg644Cys) | F | 32 | N/D | FPLD, Dunnigan variety | DM, HTN, dyslipidemia | N/D | |
| 2 | Thong et al. (41), 2013 | c.1045C > T (p.Arg349Trp) | F | 35 | N/D | FPLD, Non-Dunnigan | HTN, AR, paroxysmal atrial fibrillation | UPR 595 mg/mmol, sALB 27 g/L, eGFR 33 ml/min/1.73 m2, sCr 1.7 mg/dl | |
| 3 | Thong et al. (41), 2013 | c.1045C > T (p.Arg349Trp) | F | 27 | N/D | FPLD, Non-Dunnigan | HTN, mild MR, trivial AR, bilateral hearing loss | UPR 3.67 g/24 h, sALB 35 g/LL, eGFR 141 ml/min/1.73 m2, sCr 0.52 mg/dl | |
| 4 | Thong et al. (41), 2013 | c.1045C > T (p.Arg349Trp) | M | 35 | N/D | FPLD, Non-Dunnigan | Cardiomyopathy, dyslipidemia, erectile dysfunction, Rt. Hearing loss | UPR 123 mg/mmol, sALB 38 g/L, eGFR 115 ml/min/1.73 m2, sCr 0.77 mg/dl | |
| 5 | Thong et al. (41), 2013 | c.1045C > T (p.Arg349Trp) | F | 40 | N/D | FPLD, Non-Dunnigan | DM, HTN, cardiomyopathy, 1st degree heart block, bilateral hearing loss | UPR 121 mg/mmol, sALB 41 g/L, eGFR 73 ml/min/1.73 m2, sCr 0.7 mg/dl | |
| 6 | Hussain et al. (24), 2018 | c.29C > T (p.Thr10Ile) | F | 33 | N/D | Generalized lipodystrophy | DM, dyslipidemia, AR, MR, TR, heart failure, left ventricular hypertrophy, atherosclerosis, primary amenorrhea, steatohepatitis, | UPR >2 g/day | |
| 7 | Fountas et al. (37), 2017 | c.1045C > T (p.Arg349Trp) | F | 27 | N/D | FPLD, Non-Dunnigan | DM, dyslipidemia, myopathy, hepatic steatosis | UPR 2.2 g/24 h, sALB 4.2 g/dl, eGFR 118 ml/min/1.73 m2, sCr 0.67 mg/dl | USG normal, ACEi improved kidney function, proteinuria (sCr 0.68 mg/dl, 117 ml/min/1.73 m2, UPR 1.1 g/24hr) |
| 8 | Magno et al. (26), 2020 | c.1045C > T (p.Arg349Trp) | M | 34 | beaked nose, prominent eyes, partial alopecia, skin atrophy, thin lips, small mandible | FPLD, Non-Dunnigan | HTN, dyslipidemia, moderate MR, TR, neuroendocrine tumor, sensorineural hearing loss, hepatic steatosis, | UPR 9 g/24 h, eGFR 30 ml/min/1.73 m2, sCr 7 mg/dl | HD, KT |
| 9 | Hussain et al. (23), 2020 | c.1045C > T (p.Arg349Trp) | F | 38 | Pointed nose, thin lips | FPLD, Non-Dunnigan | DM, HTN, dyslipidemia, cardiomyopathy, mild AR, MR, TR | UPR 4.5 g/24 h | dialysis |
N/D, not described; DM, diabetes mellitus; HTN, hypertension; AR, aortic regurgitation; MR, mitral regurgitation; TR, tricuspid regurgitation; UPR, urine protein; sALB, serum albumin; eGFR, estimated GFR; sCr, serum creatinine; HD, hemodialysis; KT, kidney transplantation; USG, ultrasonography.