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| {{CMG}} {{AE}} [[User:Roghayeh Marandi|Roghayeh Marandi]][mailto:parastoo@aol.in] | | {{CMG}} {{AE}} [[User:Roghayeh Marandi|Roghayeh Marandi]][mailto:parastoo@aol.in] |
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| {{SK}} Erythrogenesis imperfecta; congenital pure red cell aplasia, hereditary pure red cell aplasia, familial pure red cell aplasia | | {{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 |
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| ==[[Diamond-Blackfan anemia overview|Overview]]== | | ==[[Diamond-Blackfan anemia overview|Overview]]== |
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| ==[[Diamond-Blackfan anemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]== | | ==[[Diamond-Blackfan anemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| ==Complications==
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| *Common complications of Diamond black-fan include:
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| *Physical abnormalities
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| *higher-than-average chance of developing myelodysplastic syndrome (MDS), acute myeloid leukemia (AML) bone cancer (osteosarcoma), colon cancer<ref name="pmid20012593">{{cite journal |vauthors=Luft F |title=The rise of a ribosomopathy and increased cancer risk |journal=J. Mol. Med. |volume=88 |issue=1 |pages=1–3 |date=January 2010 |pmid=20012593 |doi=10.1007/s00109-009-0570-0 |url=}}</ref>
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| *Eye problems such as [[cataracts]], [[glaucoma]], or [[strabismus]]
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| *[[kidney]] abnormalities
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| *[[hypospadias]]
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| *Secondary complications due to standard therapies( Corticosteroids treatment, Red cell transfusion, Bone marroe transplantation):
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| **Transfusion iron overload
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| ***Cirrhosis or fibrosis of the liver
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| ***Cardiac arrythmias
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| ***Diabetes
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| ***Reproductive organ failure
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| ***Growth stunting
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| ***Endocrine failure affecting the thyroid and adrenal
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| **Side effects of corticosteroids
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| ***[[Osteoporosis]]
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| ***Weight gain
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| ***Cushingoid appearance
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| ***Hypertension
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| ***[[Diabetes mellitus]]
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| ***Growth retardation
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| ***Pathologic bone fractures
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| ***[[Gastric ulcers]]
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| ***[[Cataracts]]
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| ***[[Glaucoma]]
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| ***Increased susceptibility to infection
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| **Stem cell transplantation
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| ***Graft vs. Host Disease (GVHD)
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| ***Rejection
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| ==Prognosis==
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| *Prognosis is relatively good,Overall actuarial survival is 75% at age 40 years, but complications related to treatment may alter the quality of life of the affected individuals. Severe complications as a result of treatment or the development of cancer may reduce life expectancy. <ref name="pmid31424886">{{cite journal |vauthors=Gadhiya K, Budh DP |title= |journal= |volume= |issue= |pages= |date= |pmid=31424886 |doi= |url=}}</ref>
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| *Hematopoietic stem cell transplant (HSCT) is the sole curative option, but carries significant morbidity and is generally restricted to those with a matched related donor.<ref name="pmid16041310">{{cite journal |vauthors=Roy V, Pérez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN |title=Bone marrow transplantation for diamond-blackfan anemia |journal=Biol. Blood Marrow Transplant. |volume=11 |issue=8 |pages=600–8 |date=August 2005 |pmid=16041310 |doi=10.1016/j.bbmt.2005.05.005 |url=}}</ref>
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| *Ultimately, 40% of case subjects remain dependent upon [[corticosteroids]] which increase the risk of [[heart disease]], [[osteoporosis]], and severe [[infections]]. <ref name="pmid20960466">{{cite journal |vauthors=Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I |title=The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update |journal=Hum. Mutat. |volume=31 |issue=12 |pages=1269–79 |date=December 2010 |pmid=20960466 |pmc=4485435 |doi=10.1002/humu.21383 |url=}}</ref>
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| *Another 40% become dependent upon red cell transfusions which require regular [[chelation]] to prevent [[iron overload]] and increases the risk of alloimmunization and transfusion reactions, and can cause severe co-morbidities.<ref name="pmid23016900">{{cite journal |vauthors=Horos R, von Lindern M |title=Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia |journal=Br. J. Haematol. |volume=159 |issue=5 |pages=514–27 |date=December 2012 |pmid=23016900 |doi=10.1111/bjh.12058 |url=}}</ref>
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| ==Diagnosis== | | ==Diagnosis== |
| [[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]] | | [[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]] |
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| ==Diagnosis==
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| *Diagnosing DBA is usually hard due to its partial phenotypes and the wide inconsistency of clinical expressions. the International Clinical Consensus Conference stated diagnostic and supporting criteria for the diagnosis of DBA.<ref name="pmid18671700">{{cite journal |vauthors=Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM |title=Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref>
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| *'''Diagnostic criteria'''
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| **Normochromic, often [[macrocytic anemia]] developing in the first year of life
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| **Profound [[reticulocytopenia]]
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| **Normocellular bone marrow with selective deficiency of [[erythroid]] precursors
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| **Normal or slightly reduced [[leukocyte]] count
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| **Normal or slightly increased [[platelet]] count
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| *'''Major supporting criteria'''
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| **Gene mutation described in ‘‘classical’’ DBA
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| **Positive family history
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| *'''Minor supporting criteria'''
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| **Elevated erythrocyte [[adenosine deaminase]] activity
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| **Congenital anomalies described in ‘‘classical’’ DBA
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| **Elevated HbF
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| **No evidence of another inherited bone marrow failure syndrome
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| __NOTOC__
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| <br />
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| {| class="wikitable"
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| |+
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| |'''Classical DBA'''
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| All diagnostic criteria are met
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| '''Probable DBA'''
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| 3 Diagnostic criteria + positive family history
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| OR
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| 2 Diagnostic criteria + 3 minor criteria
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| OR
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| 3 Minor criteria + positive family history
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| '''Non-classical DBA'''
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| DBA associated gene mutation without sufficient diagnostic criteria
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| |}
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| ==History and symptoms==
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| '''History'''
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| *DBA typically presents in infancy, most commonly with [[pallor]] and [[lethargy]], median age at presentation is 8 weeks. [[Hydrops fetalis]] in some cases have been seen.<ref name="pmid23349008">{{cite journal |vauthors=Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R |title=First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia |journal=Am. J. Hematol. |volume=88 |issue=2 |pages=160 |date=February 2013 |pmid=23349008 |doi=10.1002/ajh.23366 |url=}}</ref><ref name="pmid29599205">{{cite journal |vauthors=Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW |title=Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia |journal=Haematologica |volume=103 |issue=6 |pages=949–958 |date=June 2018 |pmid=29599205 |pmc=6058779 |doi=10.3324/haematol.2017.177980 |url=}}</ref>
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| '''Symptoms'''
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| *Symptoms of anemia include [[pallor]], [[irritability]], failure to thrive, sleepiness, poor appetite, and weakness<ref name="pmid30228860">{{cite journal |vauthors=Da Costa L, Narla A, Mohandas N |title=An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia |journal=F1000Res |volume=7 |issue= |pages= |date=2018 |pmid=30228860 |pmc=6117846 |doi=10.12688/f1000research.15542.1 |url=}}</ref>
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| *[[Growth retardation]] (in about 30% )
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| *Congenital malformations, in particular [[craniofacial]], [[upper-limb]], heart, and [[genitourinar]]y malformations:(~30%-50%):
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| ==Physical exam==
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| ===Appearance of the Patient===
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| *Pallor: primary hematologic feature is characterized by [[anemia]] (low [[red blood cell]] counts),usually develops during the [[neonatal]] period.
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| *'''Congenital malformations'''( observed in approximately 50% of affected individuals):
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| **'''Head and face''' (50%)
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| ***Microcephaly
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| ***hypertelorism
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| ***Epicanthus
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| ***Ptosis
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| ***Microtia
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| ***low-set ears
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| ***Broad, depressed nasal bridge
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| ***Cleft lip/palate
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| ***High arched palate
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| ***Micrognathia
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| ***low anterior hairline
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| **'''Eye'''
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| ***Congenital glaucoma
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| ***Congenital cataract
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| ***strabismus
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| **'''Neck'''
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| ***Webbing, short neck,
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| ***Klippel-Feil anomaly
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| ***Sprengel deformity
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| **'''Upper limb and hand including thumb''' (38%)
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| ***Absent radial artery
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| ***Flat thenar eminence
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| *** Triphalangeal, duplex, bifid, hypoplastic, or absent thumb
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| **'''Genitourinary''' (19%).
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| ***Absent kidney
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| ***horseshoe kidney
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| ***hypospadias
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| **'''Heart''' (15%)
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| **Ventricular septal defect
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| ***Atrial septal defect
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| ***coarctation of the aorta
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| **'''Growth'''
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| ***Low birth weight (in 25% of affected infants)
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| *** Growth retardation9in 30%.Growth retardation can be influenced by other factors including steroid treatment
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| Following Initial Diagnosis, patients should be evaluated by:
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| *a hematologist
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| *a clinical geneticist for congenital malformations and to obtain a detailed family history
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| * an ophthalmologist for glaucoma and cataract for individuals on steroid therapy
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| * an Orthopedic evaluation for individuals with clinical findings suggestive of Klippel-Feil anomaly or Sprengel deformity
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| *Orthopedic for individuals with upper-limb and/or thumb anomalies
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| *Ultrasound examination of the kidney and urinary tract
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| *a nephrologist and a urologist, as appropriate
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| *a cardiologist including echocardiography
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| *Developmental assessment
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| ==Laboratory findings==
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| '''Blood tests:'''
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| *Increased red-cell [[mean corpuscular volume]] ([[MCV]])
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| *[[Reticulocytopenia]]
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| *Elevated erythrocyte [[adenosine deaminase]] activity([[eADA]])
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| **DBA is associated with an increased ADA activity 30– 33%. ADA is a critical enzyme of the purine salvage pathway, which enables the deamination of adenosine in inosine and 2'-deoxyadenosine deamination in deoxyinosine. It is also increased in some leukemias, lymphomas, and immune system disorders.<ref name="pmid3348976">{{cite journal |vauthors=Glader BE, Backer K |title=Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases |journal=Br. J. Haematol. |volume=68 |issue=2 |pages=165–8 |date=February 1988 |pmid=3348976 |doi=10.1111/j.1365-2141.1988.tb06184.x |url=}}</ref> <ref name="pmid9834249">{{cite journal |vauthors=Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G |title=High adenosine deaminase level among healthy probands of Diamond Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. The DBA Working Group of Société d'Immunologie Pédiatrique (SHIP) |journal=Blood |volume=92 |issue=11 |pages=4422–7 |date=December 1998 |pmid=9834249 |doi= |url=}}</ref>
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| *Elevated [[hemoglobin F]] ([[HbF]]) concentration
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| '''Genetic tests'''
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| 1. A sequence analysis of RPS19 is performed first.
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| 2. If no pathogenic variant in RPS19 is found, perform sequence analysis of the remaining pathologic variants which are known to cause DBA or other gene mutations.<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref>
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| '''Bone marrow aspirate'''
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| *Normal marrow cellularity
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| *[[Erythroid]] [[hypoplasia]]
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| *Marked reduction in [[normoblasts]]
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| *Persistence of pronormoblasts on occasion
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| *Normal [[myeloid]] [[precursors]] and [[megakaryocytes]]<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref>
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| '''Other tests'''
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| *Additional blood tests or genetic tests such as [[exome sequencing]], [[genome sequencing]], and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders.
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| *Diagnosis of related-therapies complications:
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| **Monitoring Transfusional Iron Overload with serum [[ferritin]] and [[Iron]] level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:
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| ***Total T3
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| ***Total T4
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| ***TSH
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| ***T3 uptake (instead of free T4)
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| ***IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake)
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| ***NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure)
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| ***Antithyroid Abs (Antithyroglobulin and AntiThyroperoxidase)
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| ***Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons)
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| ***Vitamin D
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| ==Treatment== | | ==Treatment== |
| [[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]] | | [[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]] |
| *[[Red cell transfusions]]
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| **Transfusions are usually the mainstay of treatment for the first year of life for the anemia of DBA. Also, Red blood transfusions are used for those patients who do not respond to corticosteroid treatment
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| *[[Corticosteroid]] therapy
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| **after the first year patients are started on a course of treatment with corticosteroids and it remains the mainstay of treatment after the original report of their efficacy. 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> Treatment with corticosteroids can improve the anemia in 80% of patients, but individuals often become intolerant to long-term corticosteroid therapy and turn to regular red blood cell transfusions, which is the only available standard therapy for the anemia. <ref name="pmid30503522">{{cite journal |vauthors=Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT |title=The Genetic Landscape of Diamond-Blackfan Anemia |journal=Am. J. Hum. Genet. |volume=103 |issue=6 |pages=930–947 |date=December 2018 |pmid=30503522 |pmc=6288280 |doi=10.1016/j.ajhg.2018.10.027 |url=}}</ref>
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| **Chronic [[glucocorticoid]] therapy predisposes patients to iatrogenic Cushing syndrome and adrenal insufficiency.
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| **Chronic [[blood transfusions]] place patients at risk for the iron overload of the liver, heart, and endocrine organs. Growth failure, osteopenia, diabetes mellitus, and failure of the thyroid, parathyroids, adrenals, gonads, and pituitary gland, may be related to therapy.<ref name="pmid26496000">{{cite journal |vauthors=Lahoti A, Harris YT, Speiser PW, Atsidaftos E, Lipton JM, Vlachos A |title=Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR) |journal=Pediatr Blood Cancer |volume=63 |issue=2 |pages=306–12 |date=February 2016 |pmid=26496000 |pmc=4829065 |doi=10.1002/pbc.25780 |url=}}</ref>
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| *[[Bone marrow transplantation]] (BMT)
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| **It is the only curative treatment for the anemia of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. This can be done using an unaffected sibling or an unrelated donor.
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| '''[[Remission]]'''
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| *Periods of [[remission]] may occur, during which transfusions and steroid treatments are not required. Remission defined as an adequate [[Hemoglobin]] level without any treatment, lasting 6 months, independent of prior therapy. 72% of patients experience remission during the first decade of life. Some of them have more than one remission in their life. Relapses usually occur after a viral illness.
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| *Some patients who have such mild signs and symptoms do not require treatment.[https://doi.org/10.1182/blood.V112.11.3092.3092]
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| *Cancer treatment
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| '''Prevention of secondary complications'''
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| *Iron chelation
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| **usually started after ten to 12 transfusions (170-200 mL/kg of packed red blood cells), when serum ferritin concentration reaches 1,000-1,500 µg/L, or when the hepatic iron concentration reaches 6-7 mg/g of dry weight liver tissue
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| ***Deferasirox is recommended in individuals age two years or older.
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| ***Desferrioxamine
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| *Corticosteroids side effects:
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| **One of the critical side effects of corticosteroids is growth retardation. If growth is severely impaired, corticosteroids should be stopped.<ref name="pmid20301769">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Clinton C, Gazda HT |title= |journal= |volume= |issue= |pages= |date= |pmid=20301769 |doi= |url=}}</ref>
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| ==Further or investigational therapies==
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| *Investigations of several other agents showed these drugs appear to be largely ineffective and there is currently no evidence that any of these has a major role in the management of DBA <ref name="pmid18671700">{{cite journal |vauthors=Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM |title=Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |journal=Br. J. Haematol. |volume=142 |issue=6 |pages=859–76 |date=September 2008 |pmid=18671700 |pmc=2654478 |doi=10.1111/j.1365-2141.2008.07269.x |url=}}</ref>
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| **Intravenous [[immunoglobulin]]
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| **High dose erythropoietin
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| **[[Interleukin]]-3
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| **[[Androgens]]
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| **[[Metoclopramide]]
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| **[[Leucine]] and [[lenalidomide]]
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|
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| * Researchers still wants to know why steroids often work in DBA, find more [[mutations]], and address some questions about [[Diamond-Blackfan anemia]].<ref name="pmid30503522">{{cite journal |vauthors=Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT |title=The Genetic Landscape of Diamond-Blackfan Anemia |journal=Am. J. Hum. Genet. |volume=103 |issue=6 |pages=930–947 |date=December 2018 |pmid=30503522 |pmc=6288280 |doi=10.1016/j.ajhg.2018.10.027 |url=}}</ref>
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| ==Case Studies== | | ==Case Studies== |