Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in <i>COL4A3</i> and <i>COL4A4</i>.

ABSTRACT:

Background

A key goal in managing patients with heterozygous disease-causing COL4A3 and COL4A4 (COL4A3/4) variants, affecting individuals spanning a broad age range, is to slow the development of chronic kidney disease (CKD). Whether age of onset is associated with the risk of CKD has not been investigated.

Methods

In 294 patients (118 males) with heterozygous disease-causing COL4A3/4 variants in the Shanghai Registry of Alport Syndrome, we made the comparison of risk of CKD between those showing disease onset before 18 years old (early onset) or from 18 years and older (late onset). CKD were defined as onset of persistent albuminuria (albumin-to-creatinine ratio ≥30 mg/g) or CKD G2 (estimated glomerular filtration rate <90 ml/min/1.73 m²

SUBMITTER: Hu N 

PROVIDER: S-EPMC12498093 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature