How is the orthopedist involved in diagnosing Marfan syndrome?
I'm very interested in how can you make the diagnosis of Marfan syndrome because knowing about it, then you can take better care of certain things like your heart and your eyes in a proactive sense.
マルファン症候群の診断方法について、私は非常に関心があります。というのは、それがわかっていれば、先を見越した心臓や眼などの治療が可能になるからです。
So, as an orthopedic surgeon, I try to teach people how to recognize people who might have Marfan syndrome without scaring everybody to say that they might have it, but I think you have to look at the blend of the tissue: the hand shape, the feet, the size and the width of the skeleton, the shapes of the bones and what they look like on X-ray.
私は整形外科医として、マルファン症候群が疑われる方の見分け方をお伝えしようとしているのですが、その際「あの人はマルファンかもしれない」などと言って皆さんを怖がらせることはしていません。見分けるには複合的に組織を見る必要があります。手や足の形状、骨格の大きさや幅、骨の形状、レントゲンでの見え方などです。
And basically we develop a threshold where a certain number of findings probably should be a key for referring to a geneticist or to a cardiologist so that you can make that diagnosis and we teach our residents and our trainees how to look for each of these characteristics and process them so that we can develop appropriate referral criteria.
大筋ではありますが、いくつかの所見が認められた場合に、遺伝学者や循環器専門医に紹介できるようにする基準を作成しています。そして、紹介にあたっての適切な基準を作成するため、研修医らにこれらの特徴の見つけ方や対処方法について教育を行っています。
I would look for scoliosis which you may not have been able to see because you can't see your own back and you probably would have noticed whether you had a pectus or not. I would look at your fingers and how elastic and long they are or not and I would look at your X-rays and see whether there are certain features of your hips and possibly your spinal vertebrae and then we would probably at that point if you had three or four those high yield features, we would refer you to either Dr. Dietz or genetic colleague or to a cardiologist to look for an echo.
私は皆さんでは確認できない側弯症を確認します。胸部の異常については御自身で確認できるでしょう。指に関しては柔軟性や長さ、レントゲンでは腰や脊椎を確認します。この時点で所見が3～4箇所あれば、ディーツ医師や遺伝学を専門とする同僚、あるいはエコー検査を行う心臓専門医に紹介します。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundationは、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.orgにアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
