シンポジウム8：チャレンジ！ 遺伝性末梢神経疾患治療
遺伝性トランスサイレチンアミロイドーシス治療の現状と展望
2021 年 38 巻 3 号 p. 370-373
詳細
2021 年 38 巻 3 号 p. 370-373
Variant forms of transthyretin (TTR) cause hereditary transthyretin (ATTRv) amyloidosis. To date, more than 150 variants in the TTR gene have been reported. Genotype–phenotype correlations are seen in ATTRv amyloidosis. Diagnosis is sometimes delayed, especially in patients without a clear family history and typical clinical manifestations. Several therapeutic strategies, such as liver transplantation, stabilizers of TTR tetramers, and TTR gene silencing therapies, have been developed.
