ESFEROCITOSIS HEREDITARIA PDF

January 7, 2020 By:

Esferocitosis hereditaria. Carolina Cózar Trastorno hemolítico familiar caracterizado por: anemia ictericia intermitente esplenomegalia. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora. Resumen. HERRERA GARCIA, Mayelín y ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects.

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Diagnosis is based on clinical and family history, physical examination and laboratory test results.

Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection. Management and treatment Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

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Esferocitosis hereditaria by Jazmin Cózar Madero on Prezi

The development of new esferocitodis allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations.

This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not routinely performed due to the usually mild disease course.

Hereditary spherocytosis HS is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy. Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results.

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Autosomal recessive inheritance and de novo mutations have also been reported, but are less common. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia esfeocitosis biliary calculi prompting a diagnosis of HS are in reality rare.

Molecular genetic testing is not routinely used to confirm diagnosis. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections. You can change the settings or obtain more information by clicking here.

Check this box if you wish to receive a copy of your message. Hdreditaria recomienda el monitoreo de glucemia y ferritina.

Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares

Folate supplement is recommended particularly after infectious events. From Monday to Friday from 9 a.

Previous article Next article. Subscriber If you already have your login data, please click here. Polish Academjy of Sciences? Patient and physician esferoctosis be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer.

Este hecho explica la discrepancia entre estos valores. Splenectomy usually results in disappearance of anemia herwditaria clear amelioration of hemolytic markers.

The high association of HS with both diabetes and iron overload suggest damage of the endocrine pancreas by the latter, as it is also seen in genetic hemochromatosis. Hereditary spherocytosis complicated with lower limb ulcers in a pregnant patient.

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SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Four HS categories have been identified: Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. This explains the discrepancy between these values. Print Send to a friend Export reference Mendeley Statistics. Thus it becomes possible to screen for both hereditary and secondary spherocytosis.

Nine issues are published each year, including mostly originals, reviews and consensus documents.

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To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Only comments written in English can be processed. For intermediate categories the indication is less clear, being useful in moderate cases before puberty. Health care resources for this disease Expert centres Diagnostic tests 35 Patient organisations 17 Orphan drug s 0. Summary and related texts. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Prenatal diagnosis for at-risk pregnancies is possible if disease-causing mutations have been identified in a family, but it is not routinely performed due to the usually mild disease course.

Red cell morphology, osmotic resistance, hypertonic cryohemolysis test, eosinmaleimide binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS.