Review
Copyright ©The Author(s) 2022.
World J Diabetes. Jul 15, 2022; 13(7): 498-520
Published online Jul 15, 2022. doi: 10.4239/wjd.v13.i7.498
Table 3 Type IV collagen-related kidney disease

Gene/location
Protein
Mutation
Risk of progression to end-stage kidney disease
X-linked Alport syndromeCOL4A5/X chromosomeα5 chain of type IV collagenHemizygous (males) or heterozygous (females) mutationsHemizygous: 100%; Heterozygous: 25%
Autosomal recessive Alport syndromeCOL4A4 or COL4A3/2q36-37α4 and α3 chains of type IV collagenBiallelic (homozygous or compound heterozygous) mutations100%
Autosomal dominant Alport syndromeCOL4A4 or/COL4A32q36-37α4 and α3 chains of type IV collagenHeterozygous mutations in the α4 or α3 chains20% in patients with risk factors for progression
Digenic Alport syndromeTwo of the COL4A3-5 genesTwo of the α3-5 chains