[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.
Egyesült Arab Emírségek Orvosegyeteme, Gyermekgyógyászati Tanszék, Al Ain, Abu Dhabi.
T
T
Révész
G
G
Kardos
D
D
Schuler
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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