DIAMOND-BLACKFAN ANEMIA - 09/09/11

Doi : 10.1016/S0889-8588(05)70483-4

Oleg I. Krijanovski, MD ^{^{*
From the Division of Pediatric Hematology and Oncology, Dana-Farber Cancer Institute and Children's Hospital; and the Department of Pediatrics, Harvard Medical School, Boston, Massachusetts}}, Colin A. Sieff, MB, BCh ^{^{*
From the Division of Pediatric Hematology and Oncology, Dana-Farber Cancer Institute and Children's Hospital; and the Department of Pediatrics, Harvard Medical School, Boston, Massachusetts}}

Résumé

Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia^{32 Diamond L.K., Blackfan K.D. Hypoplastic anemia Am J Dis Child 1938 ; 56 : 464

Cliquez ici pour aller à la section Références, 66 Josephs H.W. Anaemia of infancy and early childhood Medicine 1936 ; 15 : 307 [cross-ref]

Cliquez ici pour aller à la section Références} that usually presents early in infancy. Retrospective studies in the United Kingdom and the Netherlands are consistent with an incidence of 4–5 per million live births,^{12 Ball S.E., McGuckin C.P., Jenkins G. , et al. Diamond-Blackfan anaemia in the UK: Analysis of 80 cases from a 20-year birth cohort Br J Haematol 1996 ; 94 : 645

Cliquez ici pour aller à la section Références, 24 Bresters D., Bruin M.C.A., van Dijken P.J. Congenitale hypoplastische anemie in Nederland (1963–1989) Tijdschrift voor Kindergeneeskunde 1991 ; 59 : 203

Cliquez ici pour aller à la section Références} with evidence of inheritance (dominant and recessive) in perhaps 12% to 25% of cases.^{3 Alter B.P., Young N.S. The bone marrow failure syndromes Hematology of Infancy and Childhood Philadelphia: WB Saunders (1993).
216

Cliquez ici pour aller à la section Références, 48 Glader B.E. Diagnosis and management of red cell aplasia in children Hematol Oncol Clin North Am 1987 ; 1 : 431

Cliquez ici pour aller à la section Références, 126 Vlachos A., Lipton J.M. Bone marrow failure in children Curr Opin Pediatr 1996 ; 8 : 33

Cliquez ici pour aller à la section Références} Congenital anomalies, in particular of the head and upper limbs, are present in about a quarter of reported patients. The disease is characterized by a moderate-to-severe macrocytic anemia, occasional neutropenia and/or thrombocytosis, and a normocellular bone marrow with erythroid hypoplasia. Although proerythroblasts may be present or even increased, normoblasts are usually markedly diminished or absent. The majority of patients (75%) respond to prednisone, and erythropoiesis can then be maintained in some cases with almost homeopathic doses of the drug. Nonresponders are usually transfusion-dependent, although responses to androgen have been observed.^{33 Diamond L.K., Wang W.C., Alter B.P. Congenital hypoplastic anemia Adv Pediatr 1976 ; 22 : 349

Cliquez ici pour aller à la section Références, 58 Hardisty R.M. Diamond-Blackfan anaemia Congenital Disorders of Erythropoiesis: Ciba Foundation Symposium 37 (New Series) Amsterdam: Elsevier/Excerpta Medica/North Holland (1976).
89

Cliquez ici pour aller à la section Références, 73 Lipton J.M., Nathan D.G. Aplastic and hypoplastic anemia Pediatr Clin North Am 1980 ; 27 : 217

Cliquez ici pour aller à la section Références, 110 Sieff C.A. Pure red cell aplasia Br J Haematol 1983 ; 54 : 331

Cliquez ici pour aller à la section Références}

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Plan

INHERITANCE

CLINICAL PRESENTATION

LABORATORY INVESTIGATION

DIAGNOSIS

PATHOGENESIS

A Mutant Hematopoietic Growth Factor or its Receptor?

An Abnormal Hematopoietic Transcription Factor?

Does the Response to Steroids Teach Us Anything?

Hematopoietic Growth Factors

Bone Marrow Transplantation

OUTCOME

Malignancy

CONCLUSION

Address reprint requests to Colin A. Sieff, MB, BCh, Department of Pediatric Oncology, Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115