Table 1 Clinical characteristics and genotypes of individuals from a Chinese Family with COL4A5 mutation

COL4A5 Mutation Position

c.4298-8G > A (hemi)

c.4298-8G > A

(hemi)

c.4298-8G > A

(Het)

c.4298-8G > A(Het)

-

Sex

M

M

F

F

M

Age (yr)

13

11

31

72

76

Blood pressure (mmHg)

114/60

120/89

171/130

146/74

182/93

Occult blood

2+

3+

±

±

-

Red blood cells under microscope (0–3/HP)

2+

3+

5–10

-

-

Proteinuria

2+

4+

2+

2+

1+

Creatinine (59–104) µmol/L

259

103

205

76

128

urea (3.1-8) mmol/L

14.21

7.84

10.24

4.86

7.64

Uric acid (208–418) µmol/L

263

315

459

300

472

24 h urinary protein (< 150 mg)

5175

2838

560

ND

ND

uPCR (< 0.2) g/g

9.66

6.76

1.71

0.76

0.44

eGFR (90–120) mL/min/1.73 m²

31

96

27

68

35

Renal ultrasound

Enhanced echo of renal parenchyma

Enhanced echo of renal parenchyma

Enhanced echo of renal parenchyma

ND

ND

Renal pathology

FSGS(Glomerular sclerosis accounts for 59%)

FSGS(Glomerular sclerosis accounts for 32%)

proliferative sclerosing glomerulonephritis(Glomerular sclerosis accounts for 50%)

ND

ND

Ocular lesions

200 degree myopia

200 degree myopia

1000 degree myopia

N

myopia

Hearing loss

-

-

-

-

-