Research Article
Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
Table 1
Clinical and laboratory features of participants harboring the
COL4A5 c.422_428del (p.Leu142Valfs
11) variant in pedigree 1.
| | Subjects | Gender | Age (years) | Urine test | Renal function | Extrarenal symptoms | Follow-upb | Mutation status | | MH | GH | Proteinuria | BUN | Scr | Age at ESRD | Hearing loss | Ocular lesions | BUN | Scr | Age at ESRD |
| | I-2 | F | 90 | Y | N | N | 4.6 | 51 | N | N | N | 4.5 | 52 | N | Heterozygous | | II-9 | M | 60 | N | N | N | 7.5 | 79 | N | N | N | 7.6 | 81 | N | Wild homozygous | | II-12 | F | 60 | Y | N | N | 4.5 | 52 | N | N | N | 4.9 | 60 | N | Heterozygous | | II-14 | F | 56 | N | N | N | 5.4 | 57 | N | N | N | 5.3 | 55 | N | Wild homozygous | | III-1 | M | 18a | — | — | | — | — | 18 | — | — | — | — | — | — | | III-2 | M | 21a | — | — | — | — | — | 21 | — | — | — | — | — | — | | III-3 | M | 33 | Y | N | Y | 19.8 | 516 | N | Y | Y | 36.8 | 1180 | 34 | Hemizygous | | III-4 | M | 31 | Y | N | Y | 49.9 | 1793 | 31 | Y | Y | 30.4 | 1075 | 31 | Hemizygous | | III-5 | M | 25a | — | — | — | — | — | 25 | N | — | — | — | — | — | | III-6 | F | 26 | Y | N | N | 5.7 | 61 | N | N | N | 5.1 | 52 | N | Heterozygous | | III-7 | M | 22 | N | N | N | 5.9 | 73 | N | N | N | 5.6 | 68 | N | Wild homozygous | | III-8 | M | 20 | N | N | N | 5.8 | 76 | N | N | N | 6.1 | 79 | N | Wild homozygous |
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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; Scr: serum creatinine (μmol/L), reference value, 46–103 μmol/L; Y: yes. aThe age of death. bFollow-up results one year after gene detection. — indicates that the value is not applicable.
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