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Updated: Apr 29, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
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繰り返し発生するソマティック変異が,コルチコトロピン独立のクッシング症候群の基礎となっている

Yusuke Sato1, Shigekatsu Maekawa2, Ryohei Ishii3

  • 1Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Department of Urology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Science (New York, N.Y.)
|May 24, 2014
PubMed
まとめ

PRKACA遺伝子 (L206R) の一般的な突然変異が,副腎腫瘍におけるコルチゾールの過剰産生を駆動し,キュッシング症候群を引き起こす. この発見は,この状態に対する新しい診断と治療のターゲットを提供します.

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