[Rare congenital forms of bone marrow deficiency].
Cases of rare congenital forms of aplastic anaemia are presented. Fanconi anaemia is most frequently diagnosed, while reticular dysgenesis, amegakaryocytic thrombocytopenia and dyskeratosis congenita occur exceptionally rarely. A presumably new entity of congenital aplastic anaemia called "RAC" syndrome (retinopathy--aplastic anaemia--central nervous system abnormalities) is presented too. A short summary of the pathomechanism of congenital aplastic anaemias and present therapeutic attempts, including the possible therapeutic use of the newly discovered stem cell factor are described.
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Egyesült Arab Emírségek Orvosegyeteme, Gyermekgyógyászati Tanszék, Al Ain, Abu Dhabi.
Kardos
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Schuler
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D001927:Brain Diseases / Q000150:complications / Q000151:congenital; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000150:complications* / Q000628:therapy; D016298:Hematopoietic Cell Growth Factors / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D012160:Retina / Q000000981:diagnostic imaging / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed
D016298:Hematopoietic Cell Growth Factors
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