Diagnosis and treatment of dyskeratosis congenita in Chinese children
10.3760/cma.j.issn.2095-428X.2017.08.008
- VernacularTitle:中国儿童先天性角化不良的诊断与治疗
- Author:
Wei LI
;
Xiaotian XIE
- Keywords:
Dyskeratosis congenita;
Clinical feature;
Gene mutation;
Early diagnosis;
Methods for prevention and treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2017;32(8):591-594
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze and summarize the characteristics of Dyskeratosis congenita(DC)in Chinese children,so as to provide reference for early diagnosis and reasonable prevention and treatment of DC.Methods The data collected from 43 cases with DC in the domestic literature in recent 10 years,as well as the clinical data of 2 cases with DC treated at Tongji Hospital,Medical School,Tongji University,and a total of 45 cases with DC were analyzed and compared with those reported in the literatures of foreign countries.Results Based on the detailed data of 2 typical cases at Tongji Hospital,Medical School,Tongji University,and the data of 45 cases in China were summarized,so the major differences in the main characteristics of DC between Chinese Children and the foreigners were as follows:(1)Onset were earlier(mean age 4.5 years,median age of 3 years),but the diagnosis was delayed(mean age of 17.9 years,median age of 18 years).(2)The presence of skin pigmentation,nail lesions and mucosal leukoplakia,such as the proportion of the complete DC triad was higher(42/45 cases,93.3％).(3)There was an earlier onset of hematopoietic suppression(mean age 5.6 years).(4)Telomerase related gene mutation types were relatively minor,DKC1(7 cases)and TINF2(6 cases)were reported in recent years,and no other type of mutation was found.(5)Effective therapy of hematopoietic reconstitution was administered in 2 cases after allogeneic hematopoietic stem cell transplantation(allo-HSCT).The effective rates were about 70％(7/10 cases)in treating bone marrow failure with low dose androgen and low dose glucocorticoid.Conclusions DC is very common in infants in China,the clinical manifestations of triad are more typical,but the age of diagnosis was significantly delayed.Improving the understanding of DC and combination with the detection of related gene mutation may improve the early diagnosis rate and clinical efficacy with allo-HSCT or effective drug maintenance therapy,and also provide reference for propitious familial eugenics and prenatal examination.
