b*********d
发帖数: 2105 | 1 【 以下文字转载自 Medicine 讨论区 】
发信人: brotherband (亲亲我的招妹～), 信区: Medicine
标 题: 问一下Blau Synodrome的treatment
发信站: BBS 未名空间站 (Wed Jan 9 21:00:05 2013, 美东)
国内的亲戚家小孩，两个女孩，都有这个病。老大6岁还是7岁了，已经下病危通知单几
次了。
我知道的症状就是从小就没法站和走，全身性关节炎。我看网上说的还有眼睛肿，视力
丧失，皮肤病等症状。现在就是用很多激素类药物控制着。
小孩的爸爸妈妈都挺正常的。小孩爸爸曾经因为严重烧伤用过很多激素类药物。然后才
怀孕生子的。不知道这个有没有影响DNA的蛋白表达？
请问知道这个病的，有没有什么特效药？美国有什么OTC的药可以帮忙减轻或者控制症
状的吗？
另有就是，他们还能再要小孩吗？
叩谢！ | y******a
发帖数: 590 | 2 确诊是Blau syndrome么？NOD2 mutation 查过了？
【在 b*********d 的大作中提到】
: 【 以下文字转载自 Medicine 讨论区 】
: 发信人: brotherband (亲亲我的招妹～), 信区: Medicine
: 标 题: 问一下Blau Synodrome的treatment
: 发信站: BBS 未名空间站 (Wed Jan 9 21:00:05 2013, 美东)
: 国内的亲戚家小孩，两个女孩，都有这个病。老大6岁还是7岁了，已经下病危通知单几
: 次了。
: 我知道的症状就是从小就没法站和走，全身性关节炎。我看网上说的还有眼睛肿，视力
: 丧失，皮肤病等症状。现在就是用很多激素类药物控制着。
: 小孩的爸爸妈妈都挺正常的。小孩爸爸曾经因为严重烧伤用过很多激素类药物。然后才
: 怀孕生子的。不知道这个有没有影响DNA的蛋白表达？
| b*********d
发帖数: 2105 | 3 They just go to Beijing to take the blood test (gene test?). So far the
symptoms I knew look very like Blau syndrome (doctor's diagnose from some
hospital in Beijing).
It looks to me not a life threatening disease from simple google. I don't
know why the little girl was almost dead for several times...
Do you know how to treat this syndrome? Thanks!
【在 y******a 的大作中提到】
: 确诊是Blau syndrome么？NOD2 mutation 查过了？
| y******a
发帖数: 590 | 4 it's unlikely to be Blau. Blau is caused by an autosomal dominant mutation
of NOD2 gene. if both parents are healthy, the affected kid most likely has
a de novo mutation of the gene. it would be very unlikely for two kids
have same de novo mutation. Blau patients usually have arthritis, uveitis
and granulomatous dermatitis. So, skin biopsy, ophthalmology consult and
genetic test are important for diagnosis. do they have rash and skin biopsy
?
If it's confirmed that they have Blau, oral steroid can be used;
Methotrexate and anti-TNF can be added on as steroid sparing agents. I saw
two patients last year, one responded well to this regiman, the other not.
I know doctors who use Anakinra, but not sure about response. Good luck,
and let me know if you have Qs. | b*********d
发帖数: 2105 | 5 非常感谢！回头我再仔细问问病情！
mutation
has
uveitis
biopsy
saw
【在 y******a 的大作中提到】
: it's unlikely to be Blau. Blau is caused by an autosomal dominant mutation
: of NOD2 gene. if both parents are healthy, the affected kid most likely has
: a de novo mutation of the gene. it would be very unlikely for two kids
: have same de novo mutation. Blau patients usually have arthritis, uveitis
: and granulomatous dermatitis. So, skin biopsy, ophthalmology consult and
: genetic test are important for diagnosis. do they have rash and skin biopsy
: ?
: If it's confirmed that they have Blau, oral steroid can be used;
: Methotrexate and anti-TNF can be added on as steroid sparing agents. I saw
: two patients last year, one responded well to this regiman, the other not.
|
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