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HI estudio de un caso de Esferocitosis Familiar. Congenita en el Servicio de Pediatn’a de nuestro. Hospital permitio pesquisar tres miembros afecta- dos en su. PDF | On Oct 1, , Roberto Figueroa S and others published Esferocitosis Familiar Congénita. El estudio realizado en Luxemburgo demuestra que la prevalencia de esferocitosis hereditaria es mucho más alta que la considerada hasta ahora.

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De esta forma es posible el rastreo rsferocitosis la esferocitosis hereditaria y de la esferocitosis secundaria. HS is caused by mutations in one of the following genes: Anemia Ictericia Esplenomegalia, aisladas o en conjunto.

Servicio esferocitosis hereditaria ayuda herdeitaria la revista. Send the link below via email or IM. The prognosis is variable and depends on the severity of the disease and any associated complications.

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Constrain to simple back and forward steps. Splenectomy usually results in disappearance of anemia and clear amelioration of hemolytic markers.

You just clipped esferocitosis hereditaria first slide! Diagnosis is based on clinical and family history, physical examination and laboratory test results. More Information Less Information. Splenomegaly is frequently observed. Universidad Complutense de Madrid.

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Commentary The authors believe exferocitosis neonatal spherocytosis esferocitosis hereditaria not esferocitosis hereditaria worse prognosis at follow up. Esferocitosis hereditaria Ictericia Esplenomegalia, aisladas o en conjunto. Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.

Glóbulos rojos con esferocitosis

No cholecystectomy was required so far. Age of onset and severity vary considerably depending on the degree of anemia and hemolysis. Patients and methods Retrospective study of 18 infants younger than two months diagnosed from to Delete comment or cancel. Only comments seeking to improve the quality and accuracy esferocifosis information on the Orphanet website are accepted.

By clicking or navigating the site, you agree to allow our collection of information through cookies. La mitad de los pacientes fueron diagnosticados en la primera semana de vida.

Orphanet: Esferocitosis hereditaria

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.

Send the link below via email or IM Copy. This website uses cookies to ensure you get the best experience on our website. Summary and related texts. August 26, Travel. Key words Hereditary spherocytosis. 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. The identity of hyperchromic RBC and spherocytes as well as their normal percentage have been previously efserocitosis.


Thank you for your feedback. Management and treatment Treatment esferocitosis hereditaria management of jaundice esferocitosis hereditaria and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia.


If you continue browsing the site, you agree to esferocitosiss use of cookies on this website. Thumbnails Document Outline Attachments. Aramburu Arriaga a M. Laparoscopic splenectomy is preferred if performed by experienced surgeons. Clinical symptoms such as jaundice, splenomegaly, anemia, aplasia and biliary calculi prompting a diagnosis of HS are in reality rare. Resultados La mitad de los pacientes fueron diagnosticados en la primera semana de vida.

See more popular or the latest prezis. Serum ferritin levels should be checked annually. Thus it becomes possible to screen for both hereditary and secondary spherocytosis.

Specialised Social Services Eurordis directory. 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. Pre and post-splenectomy vaccine prophylaxis and prophylactic antibiotics are recommended in order to prevent infections.

La esferocitosis leve por infecciones concurrentes que causan esplenomegalia puede agravarse, como la mononucleosis infecciosa.

Key words Hereditary spherocytosis.