[Faculty of Health and Nutrition] Professor Kamori's paper published in the "American Journal of Kidney Disease" Articles in Press

A paper by Professor Atsuya Kamori of Faculty of Health and Nutrition has been published in the American Journal of Kidney Disease.

Journal name: American Journal of Kidney Disease
Paper title: Collagenofibrotic Glomerulopathy Associated With Homozygous STAB2 and
Heterozygous STAB1 Variants: A Case Report
Volume number: Articles in Press, January 16, 2026
DOI: https://doi.org/10.1053/j.ajkd.2025.10.016
Author: Junya Kaimori

[Contents of the paper]
This case report investigates the genetic causes of collagenofibrotic glomerulopathy (CG), a rare disorder characterized by the accumulation of type III collagen in the kidneys. A 47-year-old male patient (CG patient), born to normal parents, underwent extensive genetic testing using whole-exome sequencing. Results revealed two homozygous mutations in the STAB2 gene that disrupt its function, and one heterozygous mutation in the STAB1 gene. The proteins produced by these genes were absent in the glomeruli (where blood is filtered) of the kidney. This suggests that the disease may be related to a systemic mechanism rather than a problem with the kidney itself. The patient's mother and older brother were also examined and found to have STAB1 and STAB2 mutations, but were not affected by the disease. This suggests that the presence of both mutations in the STAB2 gene (homozygous truncating mutation) was important for the patient's development of CG. This study is the first evidence in the world that the STAB1 and STAB2 genes are involved in the development of CG and that CG is a hereditary disease. Further research is needed to determine the role that stabilin 1 (produced by STAB1) and stabilin 2 (produced by STAB2) play in this disease and what impact they have on the entire body.

(Source: Faculty of Health and Nutrition)