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Updated: Jun 15, 2025

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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Published on: July 3, 2020

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X関連低リン酸性血症

Peter Kamenický1, Karine Briot2, Craig F Munns3

  • 1Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France; Centre de Référence des Maladies du Métabolisme du Calcium et du Phosphate, Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.

Lancet (London, England)
|August 24, 2024
PubMed
まとめ

PHEX遺伝子の欠陥による遺伝的疾患であるX関連低リン酸性血症は,過剰なFGF23による低リン酸レベルを引き起こす. FGF23をターゲットにすることで 結果が改善されますが 生涯のケアと遺伝子修復のような新しい治療法が必要です

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