Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review

Table 2

Clinical and laboratory features of participants harboring the COL4A5 c.476G>T (p.Gly159Val) variant in pedigree 2.

Subjects

Gender

Age (years)

Urine test

Renal function

Extrarenal symptoms

Follow-up^b

Mutation status

MH

GH

Proteinuria

BUN

Scr

Age at ESRD

Hearing loss

Ocular lesions

BUN

Scr

Age at ESRD

II-8

F

46

N

N

N

5.9

70

N

N

N

NE

NE

N

NE

II-9

M

43

N

N

N

6.3

82

N

N

N

NE

NE

N

NE

II-11

M

42

N

N

N

6.1

75

N

N

N

6.1

76

N

Wild homozygous

II-12

F

41

Y

N

N

7.1

80

N

N

N

7.0

82

N

Heterozygous

III-10

M

16^a

Y

N

Y

7.1

87

N

N

N

12.9

309

N

Hemizygous

BUN: blood urea nitrogen (mmol/L); ESRD: end-stage renal disease; F: female; GH: gross hematuria; HD: hemodialysis; M: male; MH: microscopic hematuria; N: no; NE: not examined; Scr: serum creatinine (μmol/L), reference value, 46–103 μmol/L; Y: yes. ^aAge of onset of III-10 was one year old. ^bFollow-up results of six years after gene detection.