BioMed Research International / 2021 / Article / Tab 4

Research Article

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

Table 4

Summary of clinical features among affected Chinese families, stratified according to gender, with COL4A5 deletion or missense mutations.

MaleFemale
Deletion mutationMissense mutationTotalDeletion mutationMissense mutationTotal

Microscopic hematuria100% (23/23)98.2% (54/55)98.7% (77/78)100% (16/16)97.6% (40/41)98.2% (56/57)
Gross hematuria42.9% (6/14)25.9% (7/27)31.7% (13/41)8.3% (1/12)19.2% (5/26)15.8% (6/38)
Proteinuria100% (23/23)92.9% (52/56)94.9% (75/79)62.5% (10/16)64.1% (25/39)63.6% (35/55)b
Impaired renal function52.0% (13/25)57.4% (31/54)55.7% (44/79)23.5% (4/17)18.9% (7/37)20.4% (11/54)c
ESRD36.0% (9/25)15.4% (8/52)a22.1% (17/77)11.8% (2/17)2.6% (1/38)5.5% (3/55)d
Age at ESRD
Hearing loss52.4% (11/21)36.0% (18/50)40.8% (29/71)26.7% (4/15)20.8% (5/24)23.1% (9/39)
Ocular lesions23.5% (4/17)15.8% (6/38)18.2% (10/55)20.0% (3/15)9.5% (2/21)13.9% (3/36)

The categorical variable was expressed as % (), where indicates the number of positive observations and indicates the total number of indicators observed. ESRD: end-stage renal disease. aCompared to the deletion mutation group, . b,c,dCompared to the male group, , , and , respectively. — indicates that the value is not applicable.