1. Cyclosporine A Treatment of Proteinuria in a New Case of MAFB-Associated Glomerulopathy without Extrarenal Involvement: A Case Report
- Author
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Tomoko Namba-Hamano, Yohei Doi, Ayako Takuwa, Atsuko Okazaki, Sachio Kajimoto, Yoshitaka Isaka, Jun-ya Kaimori, Yuta Asahina, Daisuke Motooka, Tatsuhiko Mori, Kaori Kobayashi, Tatsufumi Oka, Yusuke Sakaguchi, Takeshi Morimoto, and Akihiro Nakaya
- Subjects
medicine.medical_specialty ,Proteinuria ,Osteolysis ,business.industry ,Urology ,Treatment options ,urologic and male genital diseases ,medicine.disease ,female genital diseases and pregnancy complications ,Nephropathy ,Focal segmental glomerulosclerosis ,MAFB ,Glomerulopathy ,Medicine ,medicine.symptom ,business ,Normal eye movement - Abstract
The MAFB gene encodes an important basic leucine zipper transcription factor that functions in glomerular podocytes, macrophages, and osteoclasts. Recently, MAFB was identified as the gene that was responsible for causing nephropathy with focal segmental glomerulosclerosis (FSGS) with multicentric carpotarsal osteolysis (MCTO) or Duane retraction syndrome (DRS). Here, we describe a patient with nephropathy associated with FSGS who exhibited a novel stop-gain variant in the MAFB gene (NM_005461:c.590C>A (p.Ser197Ter)). The patient’s father exhibited proteinuria with FSGS with possible DRS, whereas the patient exhibited nephropathy with FSGS and nearly normal eye movement and hearing function, as well as intact bone structure in the extremities. Conventional oral steroids or immunosuppressive drugs have not demonstrated effectiveness for patients with nephropathy who exhibit pathogenic variants in MAFB, except for a patient with nephropathy with FSGS and MCTO who experienced attenuated proteinuria within the subnephrotic range in response to cyclosporine A (CyA) treatment for at least 4 years. Thus, we attempted administration of CyA in our patient. Unexpectedly, the patient demonstrated good and rapid responses to CyA, including a partial reduction in proteinuria from approximately 2.0 g/g Cr to proteinuria within the subnephrotic range (0.27 g/g Cr) after 13 months of observation. Our findings suggest that CyA may be a suitable treatment option for patients with nephropathy with FSGS who exhibit pathogenic MAFB variants.
- Published
- 2021