The Role of the Genetic Counselor - Empowerment Series - 3/14/19
10:37-11:56
All right so now that I've finished out drawing out the family tree for this family, what do I usually do next? The very first thing I usually do is review the family history with the family in order to kind of discuss and go over the red flags that I'm seeing that make me think there could be an undiagnosed connective tissue disorder.
ここまでで家系図は完成しました。通常、私が次の段階で行うことは、家族歴の見直しです。目的は、まだ診断の付いていない結合組織疾患が存在する可能性があり、それらを疑わせる情報を検討するためです。
So the red flags for this family include the constellation of signs and features and the patient's father and aunt as well as the sudden heart-related death in his grandfather. Next slide.
この家系の場合の気がかりな情報とは、判明した兆候や特徴、男児の父親とおば、そして、心疾患で突然死した、男児の祖父です。
From here I would recommend that genetic testing is appropriate for this family given the findings that we see in the family tree.
家系図から得られた情報を考慮すると、この家系では遺伝子検査が適切と考えられます。
And rather than testing the five-year-old patient, I would actually recommend that his father have the testing first as he has more specific features suggestive of a connective tissue disorder, which would make him a lot more likely to test positive than his son, who has very few features. And because of many of the signs and symptoms of various connective tissue disorders tend to overlap, I would recommend that we order a full panel of genes to be tested, so we can simultaneously test for all of the currently-known and well-understood causes of connective tissue disorders.
また、この5歳児の検査よりも、父親の検査を先に行うことを推奨します。なぜなら、父親のほうが結合組織疾患を示唆する特徴が多く、そうした特徴が少ない男児よりも、検査で陽性となる可能性がかなり高いためです。さらに、結合組織疾患では重複する兆候や症状が多い傾向にあるため、遺伝子のフルパネル検査を推奨します。この検査では、現在知られ、理解が進んでいる、結合組織疾患の原因遺伝子全てを同時に検査できます。
So panels like this typically have 20 to 25 genes that include conditions such as Marfan, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome as well as classical Ehlers-Danlos syndrome among others. Next slide.
今回のようなケースの場合、20～25種類の遺伝子のパネル検査を行うのが一般的です。その中には、マルファン症候群、ロイス・ディーツ症候群、血管型エーラス・ダンロス症候群、古典的なエーラス・ダンロス症候群の原因遺伝子が含まれます。
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。
