Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Abstract

Background: Advancements in genetic analysis have revealed a higher prevalence of hereditary kidney disease than expected. This study focuses on the enrollment and analysis of patients with chronic kidney disease (CKD) and a family history of CKD to identify disease-causing variants. Additionally, by incorporating data from childhood urine tests, the study examines the utility of these screenings in early disease detection.

Methods: An observational study utilizing genetic data and clinical assessments from patients with familial CKD. A total of 85 patients with familial CKD, diagnosed by clinicians and confirmed through genetic testing from 2014 to 2020, were included. Patients with cystic kidney diseases were excluded. The presence of COL4As (COL4A3, COL4A4, COL4A5) gene variants and other genetic variants associated with kidney disease was examined using a comprehensive gene panel.

Results: Of the patients, 41.2% had disease-causing variants in COL4As variants. The median age at manifestation onset was significantly lower in the COL4As group compared to patients with other disease-causing variants or those with no identified disease-causing variants. Early manifestations of microscopic hematuria were notably prevalent, indicating potential early markers for genetic kidney diseases.

Conclusions: The findings underscore the importance of family history in diagnosing genetic kidney diseases and suggest that early genetic testing, coupled with regular monitoring of urinary abnormalities, could significantly improve disease management and outcomes. Further research is necessary to explore comprehensive genetic screening and its integration into routine clinical practice.