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Congenital Dyserythropoietic Anemia Type 2

CDA 2


Presentation

  • We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed.[jcp.bmj.com]
  • When present, however, the antibodies will lyse HEMPAS red cells when incubated at 37C.[bbguy.org]
  • Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia. No Reference information available - sign in for access.[ingentaconnect.com]
  • We present a case of CDA II diagnosed in a 48-year-old woman who presented with longstanding anemia of unknown etiology.[link.springer.com]
  • These cases differ from those previously described in that Gaucher-like histiocytes were present in bone marrow aspirates from all affected children.[annals.org]
Ascitic Fluid
  • Since the patient also did not decrease her salt intake, large volume of paracentesis (approximately 8-10 L of ascitic fluid) had to be performed approximately every 10 d due to the development of refractory ascites.[wjgnet.com]
Splenomegaly
  • Moreover, reticulocytosis, which is not corresponding to the degree of anemia, with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B.[ingentaconnect.com]
  • Splenomegaly/gallstone detection; risk of iron overload. (A) Detection of splenomegaly and of gallstones. (B) Risk of iron overload dependent on age.[bloodjournal.org]
  • Other clinical features include splenomegaly resulting from sequestration of abnormal circulating erythrocytes and jaundice due to unconjugated hyperbilirubinemia.[link.springer.com]
  • Some with hepatomegaly, splenomegaly or hepatosplenomegaly.[autoinflammatory-search.org]
  • Acute hemolytic episodes sometimes occur in patients when splenomegaly develops in response to exogenous stimuli.[ommbid.mhmedical.com]
Severe Clinical Course
  • These patients display a severe clinical course and require regular transfusions. In none of them has any other B criterion been positive.[bloodjournal.org]
Regurgitation
  • A cardiac ultrasonographic examination showed concentric hypertrophy and impaired diastolic function of the left ventricle, left atrium dilatation, mitral valve regurgitation and right ventricle dilatation with tricuspid valve regurgitation and pulmonary[wjgnet.com]
Scleral Icterus
  • Our patient had scleral icterus at presentation, but no organomegaly was identified. Transfusion dependence is seen in approximately in 10% of CDA II patients during infancy and early childhood, but usually resolves with age.[link.springer.com]
Long Arm
  • It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q21-q25. Researchers continue to search for the specific gene associated with this form of the condition.[medigoo.com]
  • Linkage analysis by means of microsatellite markers localised on the long arm of chromosome 20 performed in these families demonstrated that the CDA-II locus was not linked to chromosome 20 (see also Table 1 ).[nature.com]
  • Genome-wide linkage analysis relegated genetic mutations to the long arm of chromosome 20 in a region referred as the CDAN 2 locus [ 10 ]; however, the majority of specific candidate genes within this region had been excluded [ 11 ].[link.springer.com]
  • It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition.[ghr.nlm.nih.gov]

Workup

  • These assays are routinely performed in the diagnostic workup of DAT-negative hemolytic anemia. It is unknown if flow cytometry with EMA and monoclonal antibodies against CD55 and CD59 can be used to identify samples from CDA III patients.[omicsonline.org]
  • In 2 exceptional cases, long-standing moderate anemia was investigated in the workup of an unrelated disorder, and the correct diagnosis was recognized at 62 and 78 years, respectively.[bloodjournal.org]
  • A convenient way to organize and think through the workup of an anemic infant would be: 1.[oncologynurseadvisor.com]
Enlargement of the Liver
  • Symptoms & Diagnosis The most common symptoms of CDA include: Fatigue Lack of energy Jaundice Pale skin (pallor) Enlarged spleen or liver Formation of gallstones Skeletal abnormalities, including missing fingers and toes CDA is diagnosed with: Blood tests[danafarberbostonchildrens.org]
  • Enlargement of the liver (hepatomegaly) also occurred. A third child also developed kidney cysts and pericardial effusions and experienced failure to thrive. RFT1-CDG – Eight individuals with this form of CDG have been identified.[rarediseases.org]

Treatment

  • Treatment: Usually, no special treatment is needed. The patient should be seen by a specialist of Pediatrics or Internal Medicine in suitable intervals, and also by an ophthalmologist since changes endangering the vision may develop.[medigoo.com]
  • An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis. [3] Treatment [ edit ] Treatment consists of frequent blood transfusions and chelation therapy.[en.wikipedia.org]
  • The indications for portosystemic shunting are therefore limited for the treatment of intractable ascites and portosystemic shunting should be performed only in patients with good liver function or when all other treatments fail[ 29, 32 ].[wjgnet.com]
  • Back to: « Congenital dyserythropoietic anemia Symptoms of Congenital dyserythropoietic anemia type 2 Treatments: Congenital dyserythropoietic anemia type 2 Genetics See also genetics of related diseases: Genetics of Congenital dyserythropoietic anemia[familydiagnosis.com]
  • In this way, CDA II can be very much like thalassemia, as treatment is similar.[thalassemiapatientsandfriends.com]

Prognosis

  • "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation" (PDF). Blood. 102 (13): 4576–81. doi : 10.1182/blood-2003-02-0613. PMID 12933587.[en.wikipedia.org]
  • Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E: Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term[karger.com]
  • Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B et al (2003) Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.[link.springer.com]
  • "Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation". Blood. 102 (13): 4576–4581. doi : 10.1182/blood-2003-02-0613. ISSN 0006-4971.[ipfs.io]
  • Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21. Review.[ghr.nlm.nih.gov]

Etiology

  • EM studies would be an important tool in diagnosis of Congenital dyserythropoietic anemia typeIII particularly during investigations of anemia of obscure etiology in aged person in which the diagnosis first seem to be improbable.[medigoo.com]
  • We report a case of CDA II diagnosed in a 48-year-old woman with a longstanding history of anemia of unknown etiology.[link.springer.com]
  • Etiology Etiology Blood Loss Destruction Production 3. Anemia Caused by Blood Loss Blood Loss Acute Overt Bleeding Chronic GIT Menstruation Repeated Pregnancy 4. Anemia Caused by Hemolysis Hemolytic Anemia Intrinsic Extrinsic 5.[slideshare.net]
  • Vitamin B 12 deficiency Folic acid deficiency Microcytic hypochromic Iron-deficiency anemia Hereditary defects Sickle cell anemia Thalassemia Other hemoglobinopathies Normocytic Acute blood loss Hemolysis BM failure Anemia of chronic disease Renal failure Etiology[medical-dictionary.thefreedictionary.com]
  • It may be acquired through: immune etiologies(Rh, ABO or other blood group incompatibility, maternal autoimmune, drugs) infectious etiologies(bacterial sepsis, rubella, CMV, disseminated herpes simplex virus, adenovirus, toxoplasmosis, malaria, syphilis[oncologynurseadvisor.com]

Epidemiology

  • "Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation" (PDF). Blood. 102 (13): 4576–81. doi : 10.1182/blood-2003-02-0613. PMID 12933587.[en.wikipedia.org]
  • Heimpel H: Congenital dyserythropoietic anemias: epidemiology, clinical significance and progress in understanding their pathogenesis. Ann Hematol 2004;83:613–621.[karger.com]
  • Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol . 2004; 83 :613-621. [ PubMed ] [ DOI ] 2.[wjgnet.com]
  • Heimpel H (2004) Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 83:613–621 CrossRef PubMed Google Scholar 4.[link.springer.com]
  • Results Epidemiology and inheritance Detailed information from patients seen in Ulm and/or obtained by correspondence is available for 48 cases from 43 families.[bloodjournal.org]
Sex distribution
Age distribution

Pathophysiology

  • – monitor response to monoclonal antibody therapy directed against C5 Therapy success associated with increased ratios of erythrocyte clones to granulocyte clones Background Epidemiology Incidence – Age – median onset is 30-40 years Sex – M:F, equal Pathophysiology[arupconsult.com]
  • It is a condition that represents the end result of a diverse array of different inherited or acquired pathophysiologic processes.[link.springer.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Next-generation sequencing (NGS) is a methodology that can interrogate large regions of genomic DNA in a single assay.[mayomedicallaboratories.com]
  • David Ron, MD - "Mechanisms that maintain protein folding homeostasis in the endoplasmic reticulum" Professor of Cellular Pathophysiology and Clinical Biochemistry, Cambridge Institute for Medical Research, University of Cambridge, England (UK) Short[tigem.it]
  • Ascites and hepatorenal syndrome in cirrhosis: pathophysiological basis of therapy and current management. J Hepatol . 2003; 38 Suppl 1 :S69-S89. [ PubMed ] [ DOI ] 22. Rösch J , Keller FS.[wjgnet.com]

Prevention

  • Therefore, early recognition of CDA II is important in preventing end-organ damage secondary to iron overload [ 29 ].[link.springer.com]
  • Contrary to our expectations, splenectomy did not prevent further iron loading, even in those cases where hemoglobin concentrations became nearly normal.[bloodjournal.org]
  • Furthermore, splenectomy does not prevent further iron loading, even in those patients with their hemoglobin concentrations becoming nearly normal as observed in our patient[ 4 ].[wjgnet.com]
  • This prevents the circulatory system from delivering enough oxygen to the organs and tissues.[healthline.com]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]

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