Development of new diagnostic methods for diverse autonomic dysfunction in transthyretin (TTR) related amyloidosis

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  • Ando Yukio
    Department of Amyloidosis Research, Nagasaki International University

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  • ATTRvアミロイドーシスの多彩な自律神経障害と新たな検査法の確立

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<p>Transthyretin related hereditary amyloidosis (ATTRv amyloidosis) is caused by a genetic mutation in TTR gene and a systemic amyloidosis with organ dysfunction induced by amyloid deposition in peripheral nerves, cardiac tissues, gastrointestinal tracts, kidney, ocular tissues and autonomic nervous system. In many cases, small fiber neuropathy, orthostatic hypotension, sweating disorder, abnormal gastrointestinal movement, and erectile dysfunction are found from the early stage of the disease. Recently, since TTR tetrameric stabilizers, and gene silencing therapy have been developed for ATTRv, early diagnosis is very important. We have developed various examination methods for autonomic dysfunction at the early stage of ATTRv amyloidosis patients.</p>

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