| 词条 | Hypobetalipoproteinemia |
| 释义 |
| name = Hypobetalipoproteinemia | synonyms = | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B,[1] below the 5th percentile.[2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol. Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a low cholesterol level may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. CausesOne form is thought to be caused by mutated apolipoprotein B.[3] Another form is associated with microsomal triglyceride transfer protein which causes abetalipoproteinemia. A third form, chylomicron retention disease (CRD), is associated with SARA2.[4] DiagnosisTypically in hypobetalipoproteinemia, plasma cholesterol levels will be around 80–120 mg/dL, LDL cholesterol will be around 50–80 mg/dL.{{Citation needed|date=May 2008}} TreatmentEarly high doses of vitamin E in infants and children has shown to be effective.[5] References1. ^{{cite journal |vauthors=Schonfeld G, Lin X, Yue P |title=Familial hypobetalipoproteinemia: genetics and metabolism |journal=Cell. Mol. Life Sci. |volume=62 |issue=12 |pages=1372–8 |date=June 2005 |pmid=15818469 |doi=10.1007/s00018-005-4473-0}} 2. ^{{cite journal |author=Schonfeld G |title=Familial hypobetalipoproteinemia: a review |journal=J. Lipid Res. |volume=44 |issue=5 |pages=878–83 |date=May 2003 |pmid=12639976 |doi=10.1194/jlr.R300002-JLR200 |url=http://www.jlr.org/cgi/pmidlookup?view=long&pmid=12639976}} 3. ^{{cite journal |author=Young SG |title=Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46) |journal=N. Engl. J. Med. |volume=320 |issue=24 |pages=1604–10 |date=June 1989 |pmid=2725600 |doi= 10.1056/NEJM198906153202407|url= |name-list-format=vanc|author2=Hubl ST |author3=Chappell DA |display-authors=3 |last4=Smith |first4=Richard S. |last5=Claiborne |first5=Frederica |last6=Snyder |first6=Steven M. |last7=Terdiman |first7=Joseph F.}} 4. ^{{cite journal |author=Tarugi P |title=Molecular diagnosis of hypobetalipoproteinemia: an ENID review |journal=Atherosclerosis |volume=195 |issue=2 |pages=e19–27 |date=December 2007 |pmid=17570373 |doi=10.1016/j.atherosclerosis.2007.05.003 |url=http://linkinghub.elsevier.com/retrieve/pii/S0021-9150(07)00328-0 |name-list-format=vanc|author2=Averna M |author3=Di Leo E |display-authors=3 |last4=Cefalu |first4=A |last5=Noto |first5=D |last6=Magnolo |first6=L |last7=Cattin |first7=L |last8=Bertolini |first8=S |last9=Calandra |first9=S}} 5. ^{{Cite journal |last=Zamel |first=Rola |last2=Khan |first2=Razi |last3=Pollex |first3=Rebecca L. |last4=Hegele |first4=Robert A. |date=2008-07-08 |title=Abetalipoproteinemia: two case reports and literature review |url=https://doi.org/10.1186/1750-1172-3-19 |journal=Orphanet Journal of Rare Diseases |volume=3 |pages=19 |doi=10.1186/1750-1172-3-19 |issn=1750-1172}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|E|78|6|e|78}} | ICD9 = {{ICD9|272.5}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 1117 | MeshID = D006995 }}{{Lipidemias}}{{blood-disease-stub}} 1 : Lipid metabolism disorders |
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