|
|---|
|
|
|
|
|
|
w*****s
发帖数: 230 | 1 【 以下文字转载自 Biology 讨论区 】
发信人: wwwjobs (minimouse), 信区: Biology
标 题: 请看看附件图片文字，建议我们能做什么呢？
发信站: BBS 未名空间站 (Thu Jan 16 12:24:03 2014, 美东)
附件是主治大夫的reasoning(email回复，红字)， 他的水平我们还是很佩服的，因为
他已开始猜了个病就和我们宝宝症状非常一致，可惜后来发现不是；而且他不是代谢病
专家。
问题是坚持宝宝不吃长链脂肪酸的奶粉后，他奇迹般地改善了；完全出乎医生们的预料
。我感觉医生列的是常见的代谢病，而我们感觉宝宝吃长链脂肪酸似乎是慢性中毒，大
概需要一个月左右才能体现出来。因为过程很慢，我们怀疑很多方法查不出来。
我们最大的问题是如果是这种病怎么查？不能确认的话他一辈子吃饭都受影响，基本也
就很难出门时间长一点了。尤其是他的肝已经在要换的边缘。医生们现在改口说他的病
程都是偶然，可我们不能同意。为什么每次都是长链吃一段时间就得病，尤其是这次停
了鸡蛋后马上改善。。
谢谢大家。 （下面是文字，可惜设置不成红色）
Q: Our biggest concern is the reason of his liver damage.
A: The biopsy shows severe fibrotic changes and tells us that this is not a
liver that will recover. The pa
tern is of a developmental nature with the
liver and the injury probably started before BB was born. The genes that
determine liver development in utero are only gradually being discovered and
the mechanisms of fetal liver injury are not well understood yet. But we
can say that the pa
tern of injury is not what one sees with infec
tion,
autoimmune injury, vascular
insufficiency, toxic effect or metabolic disease.
Q: Without the reason, the damage in his body may not be limited to his
liver only (spleen is s
ll big while liver data are improving), and there
might be other things happening while he is waiti
ng.
A: There is no evidence of any other organ system in his body being
primarily affected, this does not mean that if his liver functi
on worsens
again that other organs may not be secondarily affected. Kidneys, heart and
lungs func
tion can all be compromised by advanced liver disease of any
cause. This is why he needs a liver transplant, but presently there is no
evidence of other organ involvement.
Q: "Fat in Stool" is s
ll observed everyday at home, could this be a serious
problem?
A: All pati
ents with advanced liver disease have fat in their stool,
because bile is required for fat digesti
on in the intesti
ne and will
chronic liver disease bile flow is compromised. This is also the reason that
we are supplementi
ng fat soluble vitamins -source CF (contains vitamins A,
D, E & K) and extra vitamin D (cholecalciferol) and vitamin E. The fat in
the stool is not harmful in itself it just means that he his not absorbing
it from his formula.
Q: His blood test is con
tinuously improving slowly while taking his
medicine and Preges
timil, which is given to babies with metabolic diseases.
A: The formula (Pregesti
mil) and medicines are not given to children with
metabolic diseases unless they have problems with bile flow or fat
malabsorpti
on. There are no metabolic diseases that are improved with what
he is taking.
Q: We didn't see many metabolic testi
ngs in the lab list, how can we be
certain that it's not related to metabolic things?
A:
Blood gases show no acidosis
Ammonia levels not progressively increasing and without protein restric
tion
this rules out a defect of the urea cycle
Normal electrolytes rules out defect of steroid hormone metabolism
Alpha1 an
trypsin deficiency rule out
Defects of fa
y acid metabolism ruled out by acylcarniti
ne profile
Defects of peroxisomal metabolism ruled out by normal urinary bile acid
levels and liver biopsy
Defects of mitochondrial functi
on and energy genera
on ruled out by normal
lactate and pyruvate levels and liver biopsy, no
acidosis and normal acylcarniti
ne profile
Defects of aminoacid and organic acid metabolism rule out by acylcarni
tine
profile and plasma amino acid profile
Niemann-Pick type C rule out with normal acid lipase level
Defects of glycosyla
on pathways ruled out by transferrin testi
ng
Cholesterol, triglycerides, HDL and LDL do not indicate any defect of lipid
and lipoprotein metabolism
What other types of metabolic disease are they worried about ?
Q: Maybe he is not a common case, some symptoms are not so apparent on him?
We checked his pictures, jaundice is never apparent on him un
til several
days before being accepted in ER on Apr 9.
A: There are no common cases in infant liver diseases.
Q: Before the biopsy, Dr. DDD told us that the biopsy could either telling
us the damage source or poin
ting to the right directi
on for further tes
tings. We just wonder what testi
ngs are we going to do and when.
A: See answer to first questi
on above in regard to what the biopsy told us.
There are no more tests to do, he has cirrhosis secondary to a presumed
defect in fetal or embryonic development of the liver – some such as ARPKD
and Alagille (and no he does not have either of these conditi
ons) we know
the defec
tive gene but for most we do not.
The important thing to concentrate on now is keeping BB as well as possible
so that he is ready to undergo transplant when a suitable
organ becomes available. | w*****s
发帖数: 230 | 2 自己顶一下
医生认为已经查够了，他不是代谢病，病人父母在无理取闹，赖在医生头上了。
而我们认为孩子的代谢病很罕见，你怎么能查一些基本的就否定所有的代谢病。况且在
父母一再要求下换了MCT奶粉，孩子的病情好转而不是如医生预期的恶化。
我们发这个贴就是想让内行们帮我们看看有什么还可以做的检查没有做，我们一定争取
。靠我们现在的医生是不可能了，人家见我们都难受。 | A*******s
发帖数: 9638 | 3 首先声明不是专家。
理论上，每一个疾病都有病因，但不是每一个病都能够明确诊断，事实上不知道的
远比知道的多。应该承认你们的问题已经很专业，你们医生的回答也非常职业，确实值
得你们佩服。代谢病，遗传病基本上说的是一回事，如果这个基因或者那个酶的检查商
业上没有，检查结果就是阴性. 进一步检查也就无从谈起。 举几个例子，Cerebellar
Ataxia的基因检测已经很多了，但很多病人的检测是阴性，这不改变这些病人是基因
变异引起小脑病变的事实， 同样的，hemiplegic migraine的基因也可以查，但大多数
病人都是阴性，这个阴性结果不改变他们有migraine和偏瘫的事实。
非常同情你们的孩子，也非常同情你们的儿科专家。 从有限的材料看，肝移植恐怕是
唯一的解决办法。
★ 发自iPhone App: ChineseWeb 8.2.2
【在 w*****s 的大作中提到】
: 自己顶一下
: 医生认为已经查够了，他不是代谢病，病人父母在无理取闹，赖在医生头上了。
: 而我们认为孩子的代谢病很罕见，你怎么能查一些基本的就否定所有的代谢病。况且在
: 父母一再要求下换了MCT奶粉，孩子的病情好转而不是如医生预期的恶化。
: 我们发这个贴就是想让内行们帮我们看看有什么还可以做的检查没有做，我们一定争取
: 。靠我们现在的医生是不可能了，人家见我们都难受。
|
|
|
|
|
|
|
|
