{
    "abstract": "Mitochondrial diseases (MDs) are inherited metabolic disorders that affect multiple organ systems, including the kidneys. Variability in disease onset and phenotypic expression, combined with the absence of specific kidney pathological findings, pose significant challenges in diagnosing MD. Consequently, many undiagnosed cases of MD may exist among patients undergoing dialysis. No effective treatment for mitochondrial nephropathy has been established. We report the case of a 27-year-old female patient who presented with leg edema, nephrotic range proteinuria attributed to focal segmental glomerulosclerosis, and bilateral sensorineural hearing loss. Immunosuppressive therapy failed to achieve remission, resulting in progressive kidney function decline and eventual end-stage kidney disease. At hemodialysis initiation, worsening atypical cardiac function and hypertrophy prompted genetic testing, which identified an MT-TL1 m.3243 A\u00a0>\u00a0G mutation and confirmed the diagnosis of MD. After hemodialysis initiation, the patient experienced persistent fatigue and decreased physical activity levels despite dry weight management. Suspected stroke-like symptoms prompted the initiation of taurine supplementation, which significantly improved headache severity, cardiac function, and physical activity levels. This case highlights the therapeutic potential of taurine supplementation in patients with MD undergoing dialysis and the importance of maintaining clinical vigilance for MD across all stages of chronic kidney disease, even without characteristic renal pathological findings of mitochondrial nephropathy.",
    "authors": [
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.\nApheresis and Dialysis Center, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Ryuto",
            "initials": "R",
            "lastname": "Yoshida"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Ryunosuke",
            "initials": "R",
            "lastname": "Mitsuno"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Takashin",
            "initials": "T",
            "lastname": "Nakayama"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Tatsuhiko",
            "initials": "T",
            "lastname": "Azegami"
        },
        {
            "affiliation": "Department of Pathology, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Akinori",
            "initials": "A",
            "lastname": "Hashiguchi"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Takuto",
            "initials": "T",
            "lastname": "Torimitsu"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Norifumi",
            "initials": "N",
            "lastname": "Yoshimoto"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Akihito",
            "initials": "A",
            "lastname": "Hisikawa"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Aika",
            "initials": "A",
            "lastname": "Hagiwara"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Toshifumi",
            "initials": "T",
            "lastname": "Nakamura"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Shu",
            "initials": "S",
            "lastname": "Meguro"
        },
        {
            "affiliation": "Department of Neurology, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Masahiro",
            "initials": "M",
            "lastname": "Katsumata"
        },
        {
            "affiliation": "Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Jin",
            "initials": "J",
            "lastname": "Endo"
        },
        {
            "affiliation": "Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.",
            "firstname": "Tatsuo",
            "initials": "T",
            "lastname": "Matsunaga"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.\nDivision of Nephrology, Department of Internal Medicine, and The Center for Integrated Kidney Research and Advance (IKRA), Faculty of Medicine, Shimane University, Shimane, Japan.",
            "firstname": "Jun",
            "initials": "J",
            "lastname": "Yoshino"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.\nDivision of Nephrology, Department of Internal Medicine, and The Center for Integrated Kidney Research and Advance (IKRA), Faculty of Medicine, Shimane University, Shimane, Japan.",
            "firstname": "Takeshi",
            "initials": "T",
            "lastname": "Kanda"
        },
        {
            "affiliation": "Apheresis and Dialysis Center, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Kohkichi",
            "initials": "K",
            "lastname": "Morimoto"
        },
        {
            "affiliation": "Medical Education Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Toshiaki",
            "initials": "T",
            "lastname": "Monkawa"
        },
        {
            "affiliation": "Apheresis and Dialysis Center, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Tadashi",
            "initials": "T",
            "lastname": "Yoshida"
        },
        {
            "affiliation": "Department of Neurology, Keio University School of Medicine, Tokyo, Japan.",
            "firstname": "Jin",
            "initials": "J",
            "lastname": "Nakahara"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. yama1005@keio.jp.\nMedical Education Center, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. yama1005@keio.jp.",
            "firstname": "Shintaro",
            "initials": "S",
            "lastname": "Yamaguchi"
        },
        {
            "affiliation": "Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.",
            "firstname": "Kaori",
            "initials": "K",
            "lastname": "Hayashi"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025. The Author(s), under exclusive licence to Japanese Society of Nephrology.",
    "doi": "10.1007/s13730-025-00992-5\n10.1016/j.cell.2020.02.051\n10.3389/fgene.2022.951185\n10.1093/brain/awab353\n10.1097/PEP.0000000000000016\n10.1002/ana.24362\n10.1001/archotol.128.4.355\n10.1101/cshperspect.a021220\n10.15252/embr.201949612\n10.1093/ckj/sfac195\n10.1159/000514550\n10.1097/PAS.0b013e3181cb4ed3\n10.2169/internalmedicine.0656-22\n10.1016/j.heliyon.2023.e14923\n10.1249/01.MSS.0000078924.61453.FB\n10.1007/s00726-003-0002-3\n10.2169/internalmedicine.51.7529\n10.1016/j.jjcc.2011.01.007\n10.1016/S0272-6386(12)80293-9\n10.1093/ndt/17.3.528",
    "journal": "CEN case reports",
    "keywords": [
        "Focal segmental glomerulosclerosis",
        "Mitochondrial disease",
        "Taurine"
    ],
    "methods": null,
    "publication_date": "2025-04-16",
    "pubmed_id": "40237914\n32220313\n36276941\n34927673\n24356313\n25652200\n11926907\n24186072\n32073748\n36726431\n33752206\n20090504\n36823092\n37082626\n12900694\n15042451\n23257519\n21334852\n2063858\n11865115",
    "results": null,
    "title": "Taurine supplementation improves physical activity level in a hemodialysis patient with mitochondrial disease: a case report.",
    "xml": "<Element 'PubmedArticle' at 0x788502868270>"
}