P**********s
发帖数: 352 | 1 我一個在中國的朋友兩歲的女兒最近證實有第十三因子缺乏症， 是一種罕有的先天性
基因遺傳病，從二十世紀六十年代至今全球才發現200多個病例。這種病一般在兒童時
期發現，病患从2岁开始全身长期淤青，一个小伤口就会出血不止，身体稍微跳动一下
，就如遭强烈撞击，体内就会出血。
今年五月，朋友的女兒因不小心跌倒導致腦內出血，及時做了一次腦部手術。目前這種
病在中國非常罕見，暫時沒有完善的治療手段。我朋友現在非常擔心，她想知道在美國
是否有醫生是這方面的權威，或者有比較好的治療手段。 | a*******p
发帖数: 1955 | | F*P
发帖数: 3204 | 3 Fresh frozen plasma and cryoprecipitate[edit]
Fresh frozen plasma and cryoprecipitate are the mainstay of therapy for
Factor XIII deficiency, but carries risk related to transfusion.
Factor XIII concentrates[edit]
Two commercially-produced factor XIII concentrates are currently available
in Europe, one is manufactured by Bio Products Laboratory (BPL) and is only
available in the United Kingdom, and the other called Fibrogammin-P and is
produced by Beringwerke of Germany. FXIII concentrate is only available
under IND or through clinical trial in the United States.[3]
Recombinant Factor XIII[edit]
Recombinant Factor XIII (rFXIII) is the only prospective drug alternative to
receiving blood transfusions, the traditional treatment for Factor XIII
deficiency. Novo Nordisk’s rFXIII is not currently a marketed drug but just
recently finished phase III clinical trials in Spring 2010.[2] Although it
is a recombinant protein, rFXIII subunit A is identical in structure and
function to the A subunit of factor XIII naturally produced in the body by
healthy individuals.[4] These patients need exogenous subunit A of factor
XIII since they have a mutation which prevents production of the A subunit.
However, since the B-subunit is located on a separate chromosome, factor
XIII deficient patients actually produce the B-subunit normally. When these
two subunits interact in the plasma, the enzyme is activated and can act
within the clotting cascade.[1] rFXIII acts by inhibiting fibrinolysis
factors which enzymatically cleave the fibrin matrix, leading to the
ultimate formation of clots.
rFXIII is synthetically bio-engineered through a yeast expression system and
administered intravenously. In clinical trials, the drug was administered
once every four weeks or administered on-demand in order to treat bleeding
episodes.[5] The introduction of rFXIII as a treatment for factor XIII
deficiency eliminates the risk of pathogenic infection present in plasma-
based treatments. rFXIII treatment would also not be dependent on blood
donations consequently increasing availability and product quality. One of
the biggest fears in developing rFXIII was that the body would mount an
immune-response to the protein; however, several safety and pharmokinetics
studies have reported no immunogenic response to rFXIII or associated yeast
products.[1] | P**********s
发帖数: 352 | 4
only
Is it from an article on a website? If so, could you link it to me? Than you
so much!
【在 F*P 的大作中提到】
: Fresh frozen plasma and cryoprecipitate[edit]
: Fresh frozen plasma and cryoprecipitate are the mainstay of therapy for
: Factor XIII deficiency, but carries risk related to transfusion.
: Factor XIII concentrates[edit]
: Two commercially-produced factor XIII concentrates are currently available
: in Europe, one is manufactured by Bio Products Laboratory (BPL) and is only
: available in the United Kingdom, and the other called Fibrogammin-P and is
: produced by Beringwerke of Germany. FXIII concentrate is only available
: under IND or through clinical trial in the United States.[3]
: Recombinant Factor XIII[edit]
| s*****g
发帖数: 2140 | 5 wiki
Factor XIII deficiency
you
【在 P**********s 的大作中提到】
:
: only
: Is it from an article on a website? If so, could you link it to me? Than you
: so much!
| P**********s
发帖数: 352 | | g*b
发帖数: 17 | 7 Sorry to hear this … Please find some information on current therapeutic
modalities and possible referral centers for Factor XIII deficiency.
1) Current standard therapies
Factor XIII levels only need to be elevated slightly to prevent or stop the
associated bleeding symptoms, and its deficiency can be treated by factor
XIII concentrates. Please note that such products are created from the
plasma of thousands of different blood donors, thus viral inactivation
process is critical.
Factor XIII deficiency has been previously treated with fresh frozen plasma
(FFP) or cryoprecipitates, and FFP is still used if factor XIII concentrates
are unavailable. Cryoprecipitates are no longer recommended because of the
risk of infection. Please note that there is also a risk of an allergic
reaction with FFP or cryoprecipitates as they are blood products from
different human donors.
Preventive (prophylactic) therapy with FXIII concentrate is recommended
every 3-4 weeks in an attempt to prevent or minimize the bleeding symptoms.
Prophylactic therapy has been used to prevent mostly bleeding into the brain
, and such decision needs to be based on careful consultation with the
patient's medical team.
The FDA approved Corifact (FXIII Concentrate, administered intravenously) in
2011 for the routine prophylactic treatment of congenital factor XIII
deficiency. Please be aware that Corifact has been associated with adverse
side effects such as blood clots in certain cases. More information on
Corifact can be found at:
CSL Behring
North American Headquarters
P.O. Box 61501
1020 First Avenue
King of Prussia, PA 19406
Phone: 610.878.4000
Fax: 610.878.4009
Website: http://www.corifact.com/
2) Investigational therapies
Genetically engineered (recombinant) form of factor XIII is under
investigation. Initial studies have shown effectiveness in preventing
bleeding episodes potentially associated with factor XIII deficiency.
Because it is artificially created in a lab, recombinant factor XIII does
not contain human blood and has thus no risk of blood-borne pathogens. This
drug has not yet received approval from the FDA.
For more information on current clinical trials, please check out www.
clinicaltrials.gov.
For information on clinical trials being conducted at the National
institutes of Health Clinical Center in Bethesda, MD, please contact the NIH
Patient Recruitment Office:
Phone: (800) 411-1222
Email: p**[email protected]
You may also want to try:
National Institutes of Health/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Phone301-592-8573
Email: n*******[email protected]
Home page: http://www.nhlbi.nih.gov/
Once the patient gets enrolled in an NIH clinical trial (research protocol),
the entire course of examinations, treatments, follow-up visits, travel ,
lodging, and boarding of the patient and his/her legal guardian(s) (e.g.
parents) will be free.
3) Other institutions:
Canadian Hemophilia Society
400-1255 University Street
Montreal
Quebec, H3B 3B6 Canada
Phone #: 514-848-0503
800 #: 800-668-2686
e-mail: c*[email protected]
Home page: http://www.hemophilia.ca
Children's Cancer & Blood Foundation
333 East 38th Street, Suite 830
New York, NY 10016-2745
Phone #: 212-297-4336
e-mail: i**[email protected]
Home page: http://www.childrenscbf.org/
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: N/A
Home page: http://rarediseases.info.nih.gov/GARD/
Hemophilia Federation of America
210 7th St. SE
Suite 200B
Washington, DC 20003 USA
Phone #: 202-675-6984
800 #: 800-230-9797
e-mail: i**[email protected]
Home page: http://www.hemophiliafed.org
Irish Haemophilia Society
First Floor
Cathedral Court
New Street
Dublin, 7 Ireland
Phone #: 353-016-579900
800 #: N/A
e-mail: i**[email protected]
Home page: http://www.haemophilia.ie/
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: g*****[email protected]
Home page: http://www.madisonsfoundation.org
National Hemophilia Foundation
116 West 32nd Street, 11th Floor
New York, NY 10001 USA
Phone #: 212-328-3700
800 #: 800-424-2634
e-mail: h***[email protected]
Home page: http://www.hemophilia.org
World Federation of Hemophilia
1425 René Lévesque Blvd. W. Suite 1010
Montreal
Quebec, H3G 1T7 Canada
Phone #: 514-875-7944
e-mail: w*[email protected]
Home page: http://www.wfh.org/index.asp?lang=EN
Hope this helps … | P**********s
发帖数: 352 | 8
the
plasma
concentrates
Thank you so much!
【在 g*b 的大作中提到】
: Sorry to hear this … Please find some information on current therapeutic
: modalities and possible referral centers for Factor XIII deficiency.
: 1) Current standard therapies
: Factor XIII levels only need to be elevated slightly to prevent or stop the
: associated bleeding symptoms, and its deficiency can be treated by factor
: XIII concentrates. Please note that such products are created from the
: plasma of thousands of different blood donors, thus viral inactivation
: process is critical.
: Factor XIII deficiency has been previously treated with fresh frozen plasma
: (FFP) or cryoprecipitates, and FFP is still used if factor XIII concentrates
|
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