Diamond-Blackfan anemia: Difference between revisions

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	Diamond-Blackfan anemia;
ICD-10	D61.0
ICD-9	284.01
OMIM	105650
DiseasesDB	29062
MeSH	D029503

VisualWikitext

Latest revision as of 22:47, 25 September 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Roghayeh Marandi [2]

Synonyms and keywords: Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia, RP: Ribosomal proteins, RPS: small ribosomal subunit, RPL: large ribosomal subunit, DBA: Diamond-Blackfan anemia, SDS: Shwachman-Diamond syndrome, AML: Acute myeloid leukemia, MDS: Myelodysplastic syndrome, BMF: Bone marrow failure, CHH: Cartilage-hair hypoplasia, CAMT: Congenital amegakaryocytic thrombocytopenia, HbF: Hemoglobin F

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Diamond-Blackfan anemia from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

External Links

Diamond Blackfan Anemia Foundation (USA)

Template:Hematology

de:Diamond-Blackfan-Syndrom

Template:WikiDoc Sources

@@ Line 14: / Line 14: @@
 {{Diamond-Blackfan anemia}}
-{{CMG}}
-==Overview==
+{{CMG}} {{AE}} [[User:Roghayeh Marandi|Roghayeh Marandi]][mailto:parastoo@aol.in]
-==Clinical Features==
+{{SK}} Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia, RP: Ribosomal proteins, RPS: small ribosomal subunit, RPL: large ribosomal subunit, DBA: Diamond-Blackfan anemia, SDS: Shwachman-Diamond syndrome, AML: Acute myeloid leukemia, MDS: Myelodysplastic syndrome, BMF: Bone marrow failure, CHH: Cartilage-hair hypoplasia, CAMT: Congenital amegakaryocytic thrombocytopenia, HbF: Hemoglobin F
-Diamond-Blackfan anemia is characterized by [[anemia]] (low [[red blood cell]] counts) with decreased erythroid [[progenitors]] in the [[bone marrow]].  This usually develops during the [[neonatal]] period.  About 47% of affected individuals also have a variety of [[congenital]] abnormalities, including [[craniofacial]] malformations, thumb or upper limb abnormalities, cardiac defects, [[urogenital]] malformations, and [[cleft palate]].  Low birth weight and generalized growth retardation are sometimes observed.  DBA patients have a modest risk of developing [[leukemia]] and other malignancies.
-==Diagnosis==
+==[[Diamond-Blackfan anemia overview|Overview]]==
-A diagnosis of DBA is made on the basis of anemia, low [[reticulocyte]] (immature red blood cells) counts, and diminished erythroid precursors in bone marrow.  Features that support a diagnosis of DBA include the presence of congenital abnormalities, [[macrocytosis]], elevated [[fetal hemoglobin]], and elevated [[adenosine deaminase]] levels in red blood cells.  Most patients are diagnosed in the first two years of life.  However, some mildly affected individuals only receive attention after a more severely affected family member is identified.  About 20-25% of DBA patients may be identified with a [[genetic test]] for mutations in the [[RPS19]] gene.
+==[[Diamond-Blackfan anemia historical perspective|Historical Perspective]]==
-==History==
+==[[Diamond-Blackfan anemia pathophysiology|Pathophysiology]]==
-==Genetics==
+==[[Diamond-Blackfan anemia causes|Causes]]==
-==Molecular Basis of Disease==
+==[[Diamond-Blackfan anemia differential diagnosis|Differentiating Diamond-Blackfan anemia from other Diseases]]==
-The phenotype of DBA patients suggests a [[hematology|hematological]] [[stem cell]] defect specifically affecting the erythroid progenitor population.  This is difficult to reconcile with the known function of the single known DBA gene.  The RPS19 protein is involved in the production of [[ribosomes]].  As such, loss of RPS19 function would be predicted to affect [[translation (genetics)|translation]] and [[protein biosynthesis]] and have a much broader impact.  Disease features may be related to the nature of RPS19 [[mutations]].  The disease is characterized by dominant inheritance, and therefore arises due to a partial loss of RPS19 protein function.  It is possible that erythroid progenitors are acutely sensitized to this decreased function, while most other tissues are unaffected.
+==[[Diamond-Blackfan anemia epidemiology and demographics|Epidemiology and Demographics]]==
-==Clinical Management and Treatments==
+==[[Diamond-Blackfan anemia risk factors|Risk Factors]]==
-[[Corticosteroids]] can be used to treat anemia in DBA.  In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted.<ref>{{cite journal | author= Vlachos A, Klein GW, Lipton JM | title= The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. | journal= J. Pediatr. Hematol. Oncol. | year=2001 | pages=377-82 | volume=23 | issue=6  | id=PMID 11563775}}</ref>  Some patients remained responsive to steroids, while [[efficacy]] waned in others.  [[Blood transfusions]] can also be used to treat severe anemia in DBA.  Periods of [[remission]] may occur, during which transfusions and steroid treatments are not required.  [[Bone marrow transplantation]] (BMT) can cure hematological aspects of DBA.  This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage.  However, data from a large DBA patient registry indicated that [[adverse events]] in transfusion-dependent patients were more frequently caused by BMTs than iron overloading.
+==[[Diamond-Blackfan anemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-==References==
+==Diagnosis==
-{{Reflist|2}}
+[[Diamond-Blackfan anemia history and symptoms|History and Symptoms]] | [[Diamond-Blackfan anemia physical examination|Physical Examination]] | [[Diamond-Blackfan anemia laboratory findings|Laboratory Findings]] |  [[Diamond-Blackfan anemia electrocardiogram|Electrocardiogram]] | [[Diamond-Blackfan anemia chest x ray|Chest X Ray]] | [[Diamond-Blackfan anemia CT|CT]] | [[Diamond-Blackfan anemia MRI|MRI]] | [[Diamond-Blackfan anemia echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Diamond-Blackfan anemia other imaging findings|Other Imaging Findings]] | [[Diamond-Blackfan anemia other diagnostic studies|Other Diagnostic Studies]]
-==External links==
+==Treatment==
-* [http://www.diamondblackfan.org.uk/ Diamond Blackfan Anæmia Support Group UK]
+[[Diamond-Blackfan anemia medical therapy|Medical Therapy]] | [[Diamond-Blackfan anemia surgery|Surgery]] | [[Diamond-Blackfan anemia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Diamond-Blackfan anemia future or investigational therapies|Future or Investigational Therapies]]
+==Case Studies==
+[[Diamond-Blackfan anemia case study one|Case #1]]
+==External Links==
 * [http://dbafoundation.org/ Diamond Blackfan Anemia Foundation (USA)]
-* [http://www.diamondblackfan.org/ Diamond Blackfan Anæmia Support Group]
-* [http://www.dbar.org/ Diamond Blackfan Anemia Registry of North America (DBAR)]
-* [http://news.bbc.co.uk/1/hi/health/4972182.stm "Designer baby bid gets go-ahead" at BBC News on 4 May 2006]
-* [http://www.diamondblackfananemia.com/ Diamond Blackfan Anemia and You]
-<br>
 {{Hematology}}

Diamond-Blackfan anemia
ICD-10	D61.0
ICD-9	284.01
OMIM	105650
DiseasesDB	29062
MeSH	D029503