Severe Hyperferritinemia with Preserved Transferrin Saturation in Genetically Confirmed X-Linked Alport Syndrome: A Case Report

Background Alport syndrome is an X-linked inherited kidney disease caused by mutations in type IV collagen genes (COL4A3, COL4A4, and COL4A5) that affect the glomerular basement membrane and can lead to sensorineural hearing loss and eye abnormalities. This disease, which can cause hematuria, proteinuria, and in more severe cases chronic kidney disease, is characterized by bilateral and high-frequency sensorineural hearing loss, eye dysfunction, and in rare cases, aortic aneurysm; however, abnormalities in iron metabolism are not commonly described. Case Presentation: We report a case of persistent and marked hyperferritinemia in a patient with genetically confirmed Alport syndrome, without blood transfusion, significant inflammation, or hereditary hemochromatosis. In 2016, a patient whose etiology of proteinuria and hematuria was investigated showed no abnormalities in iron parameters in laboratory tests performed at that time, while as of 2021, serum ferritin levels were found to be > 1000 µg/L. Abdominal ultrasound and MRI scans revealed severe hepatosplenomegaly. Minimal increases in infection and inflammation markers did not explain this severely elevated ferritin level. Hemochromatosis gene mutations were tested in several different laboratories, and no mutations were detected. Conclusion This case suggests a possible dysregulation of iron metabolism in a patient diagnosed with Alport syndrome, beyond the inflammation associated with conventional chronic kidney disease. The interaction between collagen IV mutations and systemic inflammation and iron regulatory pathways may require more detailed investigation.