Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.

ABSTRACT:

Introduction

Alport syndrome is an inherited kidney disease that leads to end-stage kidney disease (ESKD) due to pathogenic variants in COL4A3/4/5, which encode type IV collagen. Promptly identifying patients with Alport syndrome and starting treatment with a renin-angiotensin system inhibitor (RAS-I) is important for delaying progression to ESKD. In Japan, public urine screening is available for all children aged 3 years.

Methods

Patients genetically diagnosed with Alport syndrome at our department between August 2015 and May 2024, who were aged ≤ 18 years, were included in the study. We evaluated their clinical and genetic characteristics and identified the circumstances under which abnormal urine findings were first detected, with a focus on the role

SUBMITTER: Kitakado H 

PROVIDER: S-EPMC12712584 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature