Author:
Hata Misa,Mori Takayasu,Hirose Yurika,Nishida Yuriko,Mandai Shintaro,Ando Fumiaki,Susa Koichiro,Iimori Soichiro,Naito Shotaro,Sohara Eisei,Rai Tatemitsu,Taguchi Towako,Tomii Shohei,Ohashi Kenichi,Uchida Shinichi
Abstract
AbstractFibronectin (FN) glomerulopathy (FNG), a rare autosomal hereditary renal disease, is characterized by proteinuria resulting from the massive accumulation of FN in the glomeruli. It typically affects individuals aged 10–50 years. In this report, we describe the case of a 57-year-old man who was diagnosed with FNG through genetic analysis and histological examination that revealed membranoproliferative glomerulonephritis. Despite treatment with prednisolone, the therapeutic response was unsatisfactory. Prednisolone was subsequently tapered and discontinued because the patient had pulmonary thromboembolism. Subsequent comprehensive genetic testing, which was initially not conducted because the patient’s parents did not have a history of kidney disease, identified a known disease-causing variant in the FN1 gene, indicating a de novo variant. FNG was further confirmed by positive staining of glomeruli with FN using an IST-4 antibody. Although corticosteroid therapy is commonly employed as the initial treatment for MPGN, its appropriateness depends on the underlying etiology. Thus, clinicians must be aware of potential rare genetic causes underlying MPGN.
Funder
Japan Society for the Promotion of Science
Publisher
Springer Science and Business Media LLC