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.
|Published (Last):||26 May 2010|
|PDF File Size:||18.92 Mb|
|ePub File Size:||14.86 Mb|
|Price:||Free* [*Free Regsitration Required]|
It is not indicated in patients with HS trait, whereas it is usually necessary in severe cases, albeit delayed if possible until the age of 6 years. This item has received.
Esferocitosis hereditaria: aspectos clínicos, bioquímicos y moleculares
The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations. 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.
HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection. Este hecho explica la discrepancia entre estos valores.
SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis Palabras clave: The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.
Genetic counseling is recommended in families with a history of HS. Etiology HS is caused by mutations in one of the following genes: Laparoscopic splenectomy is preferred if performed by experienced surgeons.
August – September Pages ee78 Pages Four HS categories have been identified: Treatment involves management of jaundice phototherapy and even exchange blood transfusion to prevent hyperbilirubinemic encephalopathy and RBC transfusions in case of severe, symptomatic anemia. 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: Subscriber If you already have your login data, please click here.
From Monday to Friday from 9 a. Si continua navegando, consideramos que acepta su uso. 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.
SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.
Prognosis The prognosis is variable and depends on the severity of the disease and any associated complications. For all other comments, please send your remarks via contact us. 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.
This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
A combined splenectomy and cholecystectomy may be beneficial in patients with gallstones. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. 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.
Continuing navigation will be considered as acceptance of this use.
There was a problem providing the content you requested
Folate supplement is recommended particularly after esferoctiosis events. For intermediate categories the indication is less clear, being useful in moderate cases before puberty.
The treatment of choice in HS is splenectomy, since this is the most effective method in the control of anemia, although red cell survival is still short and spherocytes do not disappear. The most used test for diagnosing HS is the osmotic fragility of the red cell. Esferocitosid usually results in disappearance of anemia and clear amelioration of hemolytic markers.
Defects in these proteins lead to a loss in RBC membrane cohesion and membrane surface area, resulting in erythrocyte sphering, decreased deformability and premature destruction in the spleen. The prognosis is variable and depends on the severity of the disease and any associated complications. HS is caused by mutations in one of the following genes: Diagnostic methods Diagnosis is based on clinical and family history, physical examination and laboratory test results. Bienvenido a siicsalud Contacto Inquietudes.
Other search option ewferocitosis Alphabetical list. The identity of hyperchromic RBC and spherocytes as well as their normal percentage have been previously established. Only comments seeking to improve the quality and accuracy of information on heredtiaria Orphanet website are accepted. Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English 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.
Monitoring of blood glucose and ferritin is recommended.
Differential diagnosis Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Esferkcitosis ovalocytosis, glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see these terms. Diagnosis is hersditaria on clinical and family history, physical examination and laboratory test results.
Are you a health professional able to prescribe or dispense drugs? Nine issues are published each year, including mostly originals, reviews and consensus documents. HS being a hemolytic defect, frequently increased iron overload was not unexpected.
Hereditary spherocytosis complicated with lower limb ulcers in a pregnant patient.
You can change the settings or obtain more information by clicking here. Clinical, biochemical and molecular aspects. Splenomegaly is frequently observed.
Rev Cubana Hematol Inmunol Hemoter [online]. 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.