What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020)
39:36-42:15
Can siblings be very different in their LDS journey and does being male or female make a marked difference? This person has one person, a male in their family who's had multiple heart operations but the sister has a normal aorta later in life, so a little bit about is there a sex difference and about differences in one family in their LDS journey.
MacCarrick:
LDSはきょうだい間で大きな違いがあるのでしょうか？男女差ははっきりと現れますか？というご質問です。お兄さんは心臓手術を複数回受けているものの、妹さんは高齢でも大動脈は正常ということです。
So yes, absolutely you can see very dramatic variation even within a family even among individuals that are known to have the same Loeys-Dietz mutation. We've seen very striking examples of that where one family member has premature fusion of the skull and perhaps a cleft palate and club feet and the other family member has very few outward features but perhaps does have some degree of aortic enlargement.
Dietz:
同一家族内で、同じ遺伝子変異であっても、非常に大きな差がみられることがわかっています。あるご家族では、頭蓋骨の早期癒合や口蓋裂、内反足がみられる方もいれば、外見にはほとんど特徴が現れずに、ある程度の大動脈拡張がある方もいるといった極端な症例を経験しています。
You know, that can happen in both directions. I've seen brothers who are more severe than sisters. I've seen women or girls who are more severe than men or boys. You know, if you play the averages there's a suggestion that men may be somewhat more severely affected with many aortic aneurysm conditions but there's tremendous variation on that theme and it's, it certainly is not predictable.
Dietz:
男女差については、男性のきょうだいが女性のきょうだいよりも重篤な症状となる症例やその逆も経験しています。平均的に見れば、男性の方が大動脈瘤を多く発症するといえるかもしれませんが、これに関してもかなりの変動がありますので、予測ができないことは確かです。
You know, the, the time of increased risk in some conditions like vascular Ehlers-Danlos syndrome in boys is at around the time of sexual maturation when they're going through puberty. The time when women are at increased risk is, you know, around childbearing associated with pregnancy and perhaps breastfeeding, so each gender has their own challenges.
Dietz:
vEDSの場合、リスクが高まる時期は、男性は性的に成熟する思春期、女性は妊娠・出産および授乳の時期です。このように性別によって危険な時期は変わります。
We do feel strongly that every member of a family who is a first degree relative of someone diagnosed with Loeys-Dietz syndrome should be carefully screened. You can't trust outward features of Loeys-Dietz syndrome as being an absolute predictor, so, you know, people should maintain an index of suspicion for all at-risk family members and make sure that they get the appropriate medical tests and perhaps also DNA testing.
Dietz:
我々が強く感じていることは、LDS患者の一等親血縁者は誰もが、慎重な検査を受ける必要があるということです。LDSの外見的な特徴は絶対的な判断材料とはならないため、リスクのある家族のメンバーに関しては疑いを排除せず、遺伝子検査も含めた適切な検査を確実に受けてもらう必要があります。
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。
