The Role of the Genetic Counselor - Empowerment Series - 3/14/19
8:00-10:35
All right. Now into a real case example. So the patient we have for case one is a five year-old male, who was referred to our clinic by a pediatrician. His doctor noticed that his height was over the 99th percentile for his age group, so he was very tall, much taller than other children his age and he also had a significant pectus excavatum, so for anyone who might not be familiar with that term, this is actually just an indentation in the breast bone that can, can cause a concave appearance at the chest and we frequently see it in connective tissue disorders.
では、実際の症例の説明に入ります。症例①は小児科の先生から私達のクリニックに紹介された5歳男児です。男児の主治医は、彼の身長が同年齢の集団で、99パーセンタイルを超えていることがわかりました。つまり、男児は同じ年齢の子ども達よりもはるかに背が高いということです。また、この男児には重度の漏斗胸が認められました。漏斗胸とは胸骨が落ち込み、胸が凹んだように見える所見です。漏斗胸は結合組織疾患では頻繁にみられます。
So these two features together concerted to prompt the pediatricians concerned for possible Marfan syndrome, so he referred his patients to have an echo in an appointment with us at cardiovascular genetics clinic. Next next slide.
この2つの特徴が両方ともみられたことで、男児はマルファン症候群の疑いということになり、私達の心血管遺伝クリニックで心エコー検査を受けるために紹介されたのです。
So his echocardiogram, which is just an ultrasound of the heart, was completely normal, meaning his aortic dimensions were appropriately-sized for his age and there weren't any signs of mitral valve prolapse. Again for those who might not know enlargement or dilation of the aorta and prolapsing of the mitral valve in the heart are two signs that we frequently look for in our clinic as they're commonly-seen heart findings in connective tissue disorders.
男児の心エコー結果は全くの正常でした。大動脈の太さは年齢相応であり、僧帽弁逸脱の兆候も認められませんでした。ちなみに、大動脈拡張と僧帽弁逸脱は、結合組織疾患では一般的にみられる心臓所見であることから、私達のクリニックでは手がかりとして頻繁に注目されます。
So with a completely normal echocardiogram and two nonspecific physical features, I next needed to take a look at the rest of the family tree to start to search for more clues.
心エコー結果は全く問題がなく、2つの身体的特徴は決め手に欠けるものでしたので、次の段階として、家系図を調べることになりました。
And when I asked about the mother side of the family, her history was completely negative for any concerning findings or diagnosis but when I got to the father side of the history, my father, my suspicions started to peak for a possible connective tissue disorder. Now why is that? So just like our patient, the father has tall stature and pectus excavatum but he also has very long fingers, he's very nearsighted or has myopia, and he reports that his lung spontaneously collapsed when he was a teenager and when you start to think about all these findings happening in one person, this really begins to paint the picture of a connective tissue disorder, but still there's more information we need to get about the rest of the family.
男児の母方の家系は、マルファンに関連する所見については完全な陰性でしたが、父方の家系を見た時に結合組織疾患を強く疑いました。その理由ですが、男児の父親は背が高く、漏斗胸でした。それに加え、指が非常に長く、強度の近視で、10代の頃に自然気胸を起こしていたとのことです。これだけの所見が一人に重複していたことで、結合組織疾患の可能性が高まりました。しかし、残りの家族についての情報も必要です。
So the dad reports that he has two siblings and that his sister looks just like him, so she's very tall, she also has very long fingers but she's never had an echocardiogram and his father or our five-year-old patient's grandfather had also passed away unexpectedly at the age of 55 from what the family believes and was told was a heart attack but an autopsy was never performed to really concern or to confirm this exact diagnosis. So the family were, also reports that the grandfather looks just like the patient's father and his aunt. Next slide.
男児の父親にはきょうだいが2人おり、女のきょうだいは父親と似た外見、つまり背が非常に高く、指もとても長いというのです。ですが、その女性は心エコー検査を受けたことがないとのことでした。また、父親の父親、つまり男児の父方の祖父は55歳で心臓発作と思われる病気で突然亡くなりました。ところが、検視は行われておらず、正確な診断はわかりません。家族によると、男児の祖父は男児の父親やおばと似た外見だったということでした。
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。
