| 词条 | Acatalasia |
| 释义 |
| name = Acatalasia | image = Peroxisome.jpg | caption = Basic structure of a peroxisome | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Acatalasia (also called acatalasemia, or Takahara's disease[1]{{rp|809}}) is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase.[2] Catalase breaks down hydrogen peroxide in cells into water and oxygen. Low levels of catalase can cause hydrogen peroxide to build up, causing damage to cells. PresentationThe disorder is relatively benign, although it causes an increased incidence of oral ulcers, and can under rare circumstances lead to gangrene.[3][2] Symptoms primary affect children.[5] GeneticAcatalasia is often the result of mutations in both copies of the CAT gene which codes for the enzyme catalase.[4] There are multiple types of mutation that can cause this condition. Inheriting a single CAT mutation results in hypocatalasia, in which catalase levels are reduced, but still at functional levels.[5] DiagnosisThis disorder is commonly diagnosed pouring hydrogen peroxide on the patient's blood sample. Instead of a very bubbling reaction, blood turns brown-colored, which means the patient suffers from acatalasia Management{{Empty section|date=April 2017}}EpidemiologyIn parts of Japan, this condition has been found in approximately 1.4% of people.[6] Researchers estimate that the condition occurs in 1 in 20,000 people in Hungary and Switzerland.[4] HistoryIn 1948, Dr. Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease.[7] He had examined a patient with an oral ulcer. He had spread hydrogen peroxide on the diseased part, but oxygen was not generated due to the lack of catalase. See also
References1. ^{{cite book |author1=James, William D. |author2=Berger, Timothy G. |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=|display-authors=etal}} 2. ^1 {{cite web|last1=Reference|first1=Genetics Home|title=acatalasemia|url=https://ghr.nlm.nih.gov/condition/acatalasemia|website=Genetics Home Reference|accessdate=7 November 2017|language=en}} 3. ^{{cite journal|last=Takahara|first=Shigeo|author2=Hamilton, H. B.|author3=Neel, J. V.|author4=Kobara, T. Y.|author5=Ogura, Y.|author6=Nishimura, E. T.|title=Hypocatalasemia: a new genetic carrier state|journal=Journal of Clinical Investigation|year=1960|volume=39|issue=4|doi=10.1172/JCI104075|url=http://www.jci.org/articles/view/104075|pages=610–619|pmid=13836629|pmc=293346}} 4. ^1 {{Cite web|title = Acatalasemia|url = http://ghr.nlm.nih.gov/condition/acatalasemia|website = Genetics Home Reference|accessdate = 2015-09-28}} 5. ^{{cite web |title=OMIM Entry - # 614097 - ACATALASEMIA |url=http://www.omim.org/entry/614097 |website=www.omim.org |language=en-us}} 6. ^1 {{cite web |last1=Bissonnette |first1=Bruno |last2=Luginbuehl |first2=Igor |last3=Marciniak |first3=Bruno |last4=Dalens |first4=Bernard J. |title=Acatalasia/Acatalasemia |url=https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517168 |website=Syndromes: Rapid Recognition and Perioperative Implications |publisher=The McGraw-Hill Companies |date=2006}} 7. ^Takahara, S.; Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948. External links{{Medical resources| DiseasesDB = 30598 | ICD10 = {{ICD10|E|80|3|e|70}} | ICD9 = {{ICD9|277.89}} | ICDO = | OMIM = 115500 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D020642 }}{{Peroxisomal disorders}} 3 : Peroxisomal disorders|Autosomal recessive disorders|Conditions of the mucous membranes |
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