Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

ABSTRACT:

Introduction

Recent genetic studies have shown that Alport syndrome (AS) is much more prevalent than clinically recognized, suggesting that atypical cases may phenocopy other kidney diseases. To date, pathomechanistic studies of AS have focused exclusively on the glomerular membrane, yet equally strong expression of collagen α(IV) chains is found along the distal renal tubule. We hypothesized that genetically determined abnormality of the tubular collagen IV (α345) molecule contributes to kidney failure and may drive atypical phenotypes.

Methods

Histology and primary tubular cells (PTCs) of 8 patients with AS were investigated alongside controls.

Results

Collagen α5 (IV) was detected within the tubular basement membrane (BM) (TBM) of the distal segments of renal tubul

SUBMITTER: Loderbauer L 

PROVIDER: S-EPMC12794056 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature