| 词条 | Atransferrinemia |
| 释义 |
| name = Atransferrinemia | synonyms = | image = autorecessive.svg | caption = Atransferrinemia has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are defective. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the TF gene[1] | risks = | diagnosis = TF level, Physical exam[1] | differential = | prevention = | treatment = Oral iron therapy[3] | medication = | prognosis = | frequency = | deaths = }}Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.[1][2] Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia was first described in 1961 and is extremely rare, with only ten documented cases worldwide.[3] SymptomsThe presentation of this disorder entails anemia, arthritis, hepatic anomalies, and recurrent infections are clinical signs of the disease.[4] Iron overload occurs mainly in the liver, heart, pancreas, thyroid, and kidney [5] GeneticsIn terms of genetics of atransferrinemia researchers have identified mutations in the TF gene as a probable cause of this genetic disorder in affected people.[1] Transferrin is a serum transport protein that transports iron to the reticuloendothelial system for utilization and erythropoiesis, since there is no transferrin in atransferrinemia, serum free iron cannot reach reticuloendothelial cells and there is microcytic anemia.[6][7][8] Also, this excess iron deposits itself in the heart, liver and joints, and causes damage. Ferritin, the storage form of iron gets secreted more into the bloodstream so as to bind with the excessive free iron and hence serum ferritin levels rise in this condition{{medical citation needed|date=February 2017}} DiagnosisThe diagnosis of atransferrinemia is done via the following means to ascertain if an individual has the condition:[1]
TypesThere are two forms of this condition that causes an absence of transferrin in the affected individual:[9]
TreatmentIn terms of treatment of atransferrinemia, iron supplements (oral iron therapy) are the preferred choice, one finds that RBC transfusions are very infrequently needed.[10] See also
References1. ^1 2 3 4 {{Cite web|url=http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=1195|title=Orphanet: Congenital atransferrinemia|last=RESERVED|first=INSERM US14 -- ALL RIGHTS|website=www.orpha.net|language=en|access-date=2017-02-20}} 2. ^{{cite web|title=OMIM Entry - # 209300 - ATRANSFERRINEMIA|url=https://omim.org/entry/209300|website=omim.org|accessdate=19 February 2017|language=en-us}} 3. ^{{cite web|title=Atransferrinemia|url=https://rarediseases.org/rare-diseases/atransferrinemia/|website=National Organization for Rare Disorders|accessdate=20 February 2017}} 4. ^{{Cite web|url=https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia|title=Atransferrinemia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-02-20}} 5. ^{{cite book|last1=Barton|first1=James C.|last2=Edwards|first2=Corwin Q.|title=Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment|date=2001|publisher=Cambridge University Press|location=212|isbn=9780521593809|url=https://books.google.com/?id=kE6mmwm5d8UC&pg=PA212&dq=Atransferrinemia+iron+overload+liver,+heart,+pancreas,+thyroid,+kidney+and+joints,#v=onepage&q=Atransferrinemia%20iron%20overload%20liver%2C%20heart%2C%20pancreas%2C%20thyroid%2C%20kidney%20and%20joints%2C&f=false|language=en}} 6. ^{{cite journal|last1=Bartnikas|first1=Thomas Benedict|title=Known and potential roles of transferrin in iron biology|journal=BioMetals|date=1 August 2012|volume=25|issue=4|pages=677–686|doi=10.1007/s10534-012-9520-3|pmc=3595092|language=en|pmid=22294463}} 7. ^{{Cite web|url=https://ghr.nlm.nih.gov/gene/TF#conditions|title=TF gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-02-20}} 8. ^{{cite web|title=OMIM Entry - * 190000 - TRANSFERRIN; TF|url=https://omim.org/entry/190000|website=omim.org|accessdate=20 February 2017|language=en-us}} 9. ^{{cite book|last1=Marks|first1=Vincent|last2=Mesko|first2=Dusan|title=Differential Diagnosis by Laboratory Medicine: A Quick Reference for Physicians|date=2002|publisher=Springer Science & Business Media|isbn=9783540430575|page=633|url=https://books.google.com/?id=29RC011RyacC&pg=PA633&dq=Atransferrinemia+diagnosis#v=onepage&q=Atransferrinemia%20diagnosis&f=false|accessdate=20 February 2017|language=en}} 10. ^1 {{cite book|last1=Hoffman|first1=Ronald|last2=Jr|first2=Edward J. Benz|last3=Silberstein|first3=Leslie E.|last4=Heslop|first4=Helen|last5=Weitz|first5=Jeffrey|last6=Anastasi|first6=John|title=Hematology: Diagnosis and Treatment|date=2012|publisher=Elsevier Health Sciences|isbn=978-1455740413|page=443|url=https://books.google.com/?id=M5fD7gZSDYMC&pg=PA442&dq=Atransferrinemia+diagnosis#v=onepage&q=Atransferrinemia%20diagnosis&f=false|language=en}} Further reading
External links{{Medical resources| DiseasesDB = 29538 | ICD10 = {{ICD10|E88.0}} | ICD9 = {{ICD9|273.8}} | ICDO = | OMIM = 209300 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C538259 }}{{Inborn errors of metal metabolism}} 6 : Inborn errors of metal metabolism|Iron metabolism|Autosomal recessive disorders|Congenital disorders|Rare diseases|Red blood cell disorders |
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