Figure 2.

COL4A3, COL4A4, and COL4A5 mutations represent 30% of patients with a genetic cause of chronic kidney disease (CKD).¹⁴ Alport syndrome and autosomal dominant polycystic kidney disease (ADPKD) were the most prevalent monogenetic causes of CKD detected in a recent exome sequencing analysis of patients with CKD. Notably, 56 of the 91 patients (62%) identified by mutational screening as having Alport syndrome did not have a clinical diagnosis of Alport syndrome. Abbreviations: FSGS, focal segmental glomerulosclerosis; GN, glomerulonephritis; HTN, hypertension; NOS, not otherwise specified; PKD, polycystic kidney disease; TBMN, thin basement membrane nephropathy.