Sölder B, Weiss M, Jäger A, Belohradsky B H
Dr. v. Haunersches Kinderspital, Klinikum Innenstadt, Ludwig-Maximilians-Universität.
Klin Padiatr. 1996 Nov-Dec;208(6):344-9. doi: 10.1055/s-2008-1046495.
Dyskeratosis congenita (DC) is a rare, predominantly X-linked multisystemic disorder. It shows a wide spectrum of clinical manifestations and typically presents with dermatological symptoms within the first decade. This review of the literature points out the importance of haematological and immunological changes defining course and prognosis of disease. Pancytopenia, humoral and cellular disorders of immune function may lead to severe infections, which present the main cause of death. The pathogenesis of DC is still unclear, no causative therapy is available. Recent reports suggest a beneficial effect of haemato-poietic growth factors (G-CSF, GM-CSF) in patients with DC and neutropenia.
先天性角化不良（DC）是一种罕见的、主要为X连锁的多系统疾病。它表现出广泛的临床表现，通常在第一个十年内出现皮肤症状。这篇文献综述指出了血液学和免疫学变化对疾病进程和预后的重要性。全血细胞减少、免疫功能的体液和细胞紊乱可能导致严重感染，这是主要的死亡原因。DC的发病机制仍不清楚，尚无因果性治疗方法。最近的报告表明，造血生长因子（G-CSF、GM-CSF）对患有DC和中性粒细胞减少症的患者有有益作用。
