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Abstract：
Dyskeratosis congenita (DC) is a rare-inherited bone marrow failure syndrome associated with multi-system disorder. To summarize the clinical features, epidemiology, and treatment of DC in mainland China, we retrospectively reviewed the medical records of two patients diagnosed with DC at our hospital and published reports on other DC patients in mainland China. The clinical features of 82 DC patients were summarized. The median age of onset was 5 years, but the median age at diagnosis was 16 years. Bone marrow failure occurred at a high rate of 44% and early, with a median onset age of 6 years (range 1-40 years). Only DKC1, TINF2, and TERT mutations were reported, which is a relatively simple signature. Aplastic anemia was treated mainly with low-dose androgens, glucocorticoids, or allogeneic hematopoietic stem cell transplantation, with an efficacy of 39% (14/36). In China, DC is relatively common in infants, with early age of onset but delayed diagnosis. Bone marrow failure occurred at a high rate and early. Improvement in the knowledge and awareness of DC combined with gene mutation tests will facilitate diagnosis and therapy in its early stages.
摘要：
先天性角化病（DC）是一种罕见的遗传性骨髓衰竭综合征，与多系统疾病有关。总结临床特点,流行病学,以及DC在中国大陆的治疗，我们回顾性回顾了在我院诊断为DC的2例患者的病历,并发表了中国大陆其他DC患者的报告.总结82例DC患者的临床特点。发病年龄中位数为5岁,但诊断时的中位年龄为16岁.骨髓衰竭发生率高达44％，而且很早就发生，中位发病年龄为6岁（范围1-40岁）。仅报道了DKC1、TINF2和TERT突变，这是一个相对简单的签名。再生障碍性贫血主要用低剂量雄激素治疗，糖皮质激素,或异基因造血干细胞移植，疗效为39%（14/36）。在中国,DC在婴儿中相对常见，发病年龄早，但诊断延迟。骨髓衰竭发生率高，发生率早。提高对DC的知识和认识，结合基因突变测试将有助于早期诊断和治疗。
