Inherited Bone Marrow Failure Syndromes in Children
The journal of pediatric academy (Online), cilt.4, sa.1, ss.1-5, 2023 (TRDizin)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 4 Sayı: 1
- Basım Tarihi: 2023
- Doi Numarası: 10.4274/jpea.2023.218
- Dergi Adı: The journal of pediatric academy (Online)
- Derginin Tarandığı İndeksler: TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.1-5
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Erciyes Üniversitesi Adresli: Evet
Özet
vInherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and malignancy. Extrahematopoietic presentations are observed often in addition to symptoms related to defective hematopoiesis (also known as bone marrow failure). The biology, clinical features, and management of the main syndromes such as Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia, Diamond-Blackfan anemia, and severe congenital neutropenia are briefly summarized in this review.