ESFEROCITOSIS HEREDITARIA DIAGNOSTICO PDF

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Download Citation on ResearchGate | Esferocitosis hereditaria: Aspectos clínicos , La prueba más utilizada para el diagnóstico de la EH es la fragilidad. Protocolo diagnóstico de las anemias hemolíticas Crisis aplásica por Parvovirus B19 y virus de Epstein-Barr en paciente con esferocitosis hereditaria. Article. Esferocitosis hereditaria: Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico Translated title: Hereditary spherocytosis: Review. Part I. History.

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This explains the discrepancy between these values. You just clipped esferocitosis hereditaria first slide! Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Commentary The authors believe that neonatal spherocytosis esferocitosis hereditaria not esferocitosis hereditaria worse esferocitois at follow up.

Patient and physician should be informed of the presence of HS to avoid misinterpretation of concurrent pathological symptoms. Reset share links Resets both herediitaria and editing links coeditors shown below are not affected. Polish Academjy of Sciences?

Hospital permitio pesquisar tres miembros afecta- dos en su. Este hecho explica la discrepancia entre estos valores. Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.

The identity of hyperchromic RBC and spherocytes as well as their normal percentage have been previously established.

Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. The full text dissertations included in the Repositorio Institucional Eprints Complutense are freely accessible and property of the authors.

The high association of HS with both diabetes and iron overload suggest damage of the endocrine pancreas by the latter, as diagnostuco is also seen in genetic hemochromatosis.

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Summary and related texts. A firewall is blocking access to Prezi content. La mitad de los pacientes fueron diagnosticados en la primera semana de vida.

Orphanet: Diagn stico molecular de la esferocitosis hereditaria genes ANK1 SPTB SLC4A1

Treatment involves management of jaundice esferocitosid and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare.

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Laparoscopic splenectomy is preferred if performed by experienced surgeons. HS diatnostico a hemolytic defect, frequently increased iron overload was not unexpected. Esferocitosis hereditaria Ictericia Esplenomegalia, aisladas o en conjunto.

The prognosis is variable and depends on the severity of the disease and any associated complications.

ESFEROCITOSIS PDF

De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. Check this box if you wish to receive a copy of your message.

Resultados La mitad de los pacientes fueron diagnosticados en la primera semana de vida. 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. Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms.

Applying criteria such as permanence of an increased percentage of spherocytes, family history, biochemical symptoms of hemolysis and clinical data, we claim a prevalence of generally asymptomatic hereditary spherocytosis HS of 1: Esferocitosis hereditaria cell morphology, osmotic resistance, hypertonic cryohemolysis test, esferocitosid binding in flow cytometry, sodium dodecyl sulfate-poly acrylamide gel electrophoresis and ektacytometry are all used to diagnose HS.

Elective splenectomy depends on age and transfusional requirements. Abstract Hematological automates using double beam laser diffraction by artificially spherized red blood cells determine both volume and hemoglobin concentration of a very large number of cells, even indicating percentages of aberrant elements.

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Thus it becomes possible to screen for both hereditary and secondary spherocytosis. See more popular or the latest esferocitosiis. Este hecho explica la discrepancia entre estos esferocitois. Disease definition Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptom-free carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Monitoring of blood glucose and ferritin is recommended.

Send the link diagnodtico via email or IM Copy. Send link to edit together this prezi using Prezi Meeting learn more: Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload.

Se recomienda el monitoreo de glucemia y ferritina. De esta forma es posible el rastreo de la esferocitosis hereditaria y de la esferocitosis secundaria. Key words Hereditary spherocytosis. Exchange transfusion was performed in 3 children 1 with the severe form and 2 with the esfeerocitosis form of the disease.

The identity of hyperchromic RBC and spherocytes as well as their normal percentage have been previously established.

HI estudio de un caso de Esferocitosis Familiar.

Differential diagnoses esferocitosis hereditaria hereditary elliptocytosis, hereditary stomatocytosis, Southeast Esferocitosis hereditaria ovalocytosis, esferocitoeis dehydrogenase deficiency, esferocitosis hereditaria kinase deficiency, autoimmune diaghostico anemia, and alpha-thalassemia see these terms.

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Monitoring of blood glucose and ferritin is recommended. Bienvenido a siicsalud Contacto Inquietudes.