Table 1 Clinical features of three patients
From: CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children
Patient | One | Two | Three |
|---|---|---|---|
Age at onset (years) | 10.7 | 5 | 6.5 |
Age at diagnosis (years) | 11 | 6 | 8 |
Gender | Male | Female | Male |
Edema | No | No | No |
Megaloblastic anemia | No | No | No |
proteinuria | 2+ | 2+ | 2+ |
Urine protein/creatinine (ug/mg) | 354 | 536 | 462 |
Urine β2-microglobulin | < 0.1 mg/L | < 0.1 mg/L | 0.56 mg/L |
Urinary protein electrophoresis | 93.3% albumin | 89.3% albumin | 90% albumin |
Hemoglobin(g/L) | 115 | 116 | 130 |
Serum albumin | 42.5 | 42.4 | 42.5 |
Egfr (ml/min/1.73m2) | 132 | 165 | 168 |
LM | |||
Mesangial cell proliferation | Mild | Mild | Mild |
Segmental sclerosis (proportion) | 2/24 | 1/40 | 1/55 |
Interstitial fibrosis | Yes | Yes | Yes |
Crescent (number) | 1 | 1 | 0 |
IF | No deposits | No deposits | No deposits |
EM | |||
Effacement of foot processes | Yes | Yes | Yes |
Podocyte microvillation | Yes | Yes | Yes |
Gene mutation | |||
Allele 1 | c.9287 T > C, p. L3096P (Exon59) | c.9287 T > C, p. L3096P(Exon59) | c.10233G > A, p.W3411*(Exon64) |
Allele 2 | c.122 + 1G > A (Intron1) | c.7906C > T, p.R2636* (Exon51) | c.10233G > A p.W3411*(Exon64) |