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ELIPTOCITOSIS HEREDITARIA PDF

,, en niños fundamentos “plano” (isoeléctrico) Electromiograma Electroshock Eliptocitosis hereditaria Embarazo La ovalocitosis hereditaria es una afección poco común que se transmite de Es una forma de eliptocitosis hereditaria. Ovalocitosis de tipo hereditario. enwiki Hereditary elliptocytosis; eswiki Eliptocitosis hereditaria; fawiki الیپتوسیتوز; frwiki Elliptocytose héréditaire; itwiki Ellissocitosi ereditaria; shwiki.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

HE can present at any age and the clinical picture is heterogeneous.

Most have hereditadia HE, which is mainly asymptomatic or which can present with mild hemolytic anemia as well as jaundice, splenomegaly and gallstones. Hydrops fetalis see this term may be seen in rare cases.

A neonatal poikilocytic HE variant may be severe during the first year of life but afterwards from 4 months-2 years hemolysis declines and the phenotype becomes that of common HE.

Transient poikilocytosis may also occur during infections or pregnancy, leading to hemolytic anemia in previously asymptomatic patients. The HPP variant is characterized by severe, transfusion-dependent hemolytic anemia with onset in infancy and that can also manifest with neonatal jaundice.

Complications that can occur hwreditaria to severe anemia include growth retardation, frontal bossing, marked splenomegaly and early gallbladder disease. Aplastic crisis, brought on by a Parvovirus B19 infection, may occur in some cases. HE is caused by abnormalities of proteins involved in the eliptocitodis cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.

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File:Hereditary elliptocytosis.jpg

The genes involved in HE are: Heterozygous mutations usually result in common HE. HPP is also due to the presence of one alpha-spectrin mutation in trans to elkptocitosis low-expression alpha-spectrin allele alpha-LELY. The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, hereditsria, stomatocytes and fragmented cells on peripheral blood smears.

The mean corpuscular volume in HPP is of fL and marked poikilocytosis and red cell fragmentation is present. Genetic mutation analysis can identify causal mutations, confirming diagnosis.

Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Since HE is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.

All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible. In most cases treatment is not necessary. In the most severe variants, folic acid, red cell transfusion and splenectomy after the age of 5 may be required. Patients should be monitored during events known to precipitate hemolysis. Other search option s Alphabetical list.

Summary and related texts. Check this box if you wish to receive a copy of your message. Disease eliptocitosiis Hereditary elliptocytosis HE is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

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Clinical description HE can present at any age and elipgocitosis clinical picture is heterogeneous. Etiology HE is caused by abnormalities of proteins involved in the red cell membrane horizontal skeletal network including the spectrin dimer-dimer interaction or the spectrin-actin-protein 4.

Diagnostic methods The laboratory hallmark of HE is the presence of elliptocytes sometimes also ovalocytes, spherocytes, stomatocytes and fragmented cells on peripheral blood smears.

Differential diagnosis Differential diagnoses include other acquired causes of elliptocytic or fragmented red cells i. Antenatal diagnosis Since Dliptocitosis is very rarely life threatening, antenatal diagnosis is not necessary, except for HPP cases, where screening for low expression polymorphism i.

Genetic counseling All HE variants, apart from HPP inherited autosomal recessivelyfollow an autosomal dominant pattern of inheritance and genetic counseling is possible.

Management and treatment In most cases treatment is not necessary. Prognosis In the majority of cases HE is not life threatening and has no effect on life expectancy. Detailed information Professionals Summary information Suomipdf Polskipdf.

Ovalocitosis hereditaria by Vanessa Aristizabal on Prezi

Health care resources for this disease Expert centres Diagnostic tests 14 Patient organisations 16 Orphan drug s 0. Specialised Social Services Eurordis directory.

The documents contained in this web site are presented for information purposes only.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be hereditagia as a basis for diagnosis or treatment.

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