Year: 2026
Type: article
Study design: Case Report
Abstract: -chains, leading to abnormalities of the glomerular basement membrane. However, IgAN is an autoimmune disorder characterized by glycosylation defects in IgA1, leading to dysfunction of glomerular filtration. Approximately 15% of IgAN cases exhibit familial clustering, and some may harbor gene mutations associated with AS. A 29-year-old woman with no family history of nephropathy presented with hematuria and proteinuria. The renal biopsy revealed foamy interstitial cells. Electron microscopy indicated a torn basement membrane, indicating a diagnosis of concurrent AS and mild mesangial proliferative IgAN. Genetic testing confirmed a mutation consistent with X-linked AS. Moreover, she exhibited high-frequency hearing loss in her left ear. Initial treatment included angiotensin receptor blockers and sodium-glucose co-transporter-2 inhibitors. Corticosteroids and mycophenolate mofetil were introduced prior to genetic testing, although their efficacy was limited. Despite the co-occurrence of multiple nephropathies, this case suggests the usefulness of renal biopsy and genetic testing for accurately diagnosing kidney disease, which can help initiate appropriate treatments early. The treatment regimen did not provide significant benefits in this patient with concurrent AS and IgAN. This emphasizes the need for targeted diagnostics and personalized therapeutic approaches.
Source: Frontiers in Medicine
Authors: Jing Sun, Fangfang Yu
Institution: Guizhou Provincial People's Hospital
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W7128991848