BioMed Research International / 2021 / Article / Tab 2

Research Article

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.

SubjectsGenderAge (years)Urine testRenal functionExtrarenal symptomsFollow-upbMutation status
MHGHProteinuriaBUNScrAge at ESRDHearing lossOcular lesionsBUNScrAge at ESRD

II-8F46NNN5.970NNNNENENNE
II-9M43NNN6.382NNNNENENNE
II-11M42NNN6.175NNN6.176NWild homozygous
II-12F41YNN7.180NNN7.082NHeterozygous
III-10M16aYNY7.187NNN12.9309NHemizygous

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.