Response to androgen therapy in patients with dyskeratosis congenita.
Response to androgen therapy in patients with dyskeratosis congenita.
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DOI：
10.1111/bjh.12748
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发表时间：
2014-05
影响因子：
6.5
通讯作者：
Savage SA
中科院分区：
文献类型：
--
作者：
Khincha PP;Wentzensen IM;Giri N;Alter BP;Savage SA
先天性角化不良（DC）是一种遗传性骨髓衰竭综合征和端粒生物学紊乱，以指甲发育不良、网状皮肤色素沉着和口腔白斑为特征。雄激素是不能接受造血干细胞移植的DC患者骨髓衰竭的标准治疗选择，但没有关于这些患者使用雄激素的系统数据。在我们的观察性队列研究中，我们评估了16例DC患者雄激素治疗的血液学反应和副作用。未经治疗的DC患者作为对照。70%接受治疗的DC患者具有红细胞和/或血小板输注独立性的血液学应答。在雄激素治疗的患者中观察到预期的年龄相关的端粒长度下降。所有接受治疗的DC患者至少有一个显着的脂质异常。其他治疗相关结果包括甲状腺结合球蛋白显著降低、青春期前儿童生长加速和2例患者的脾紫癜。雄激素治疗和未治疗的患者肝酶升高，表明DC的潜在肝脏参与。这项研究表明，雄激素治疗可以有效地用于治疗DC骨髓衰竭，但副作用需要密切监测。
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and telomere biology disorder characterized by dysplastic nails, reticular skin pigmentation and oral leucoplakia. Androgens are a standard therapeutic option for bone marrow failure in those patients with DC who are unable to undergo haematopoietic stem cell transplantation, but there are no systematic data on its use in those patients. We evaluated haematological response and side effects of androgen therapy in 16 patients with DC in our observational cohort study. Untreated DC patients served as controls. Seventy percent of treated DC patients had a haematological response with red blood cell and/or platelet transfusion independence. The expected age-related decline in telomere length was noted in androgen-treated patients. All treated DC patients had at least one significant lipid abnormality. Additional treatment-related findings included a significant decrease in thyroid binding globulin, accelerated growth in pre-pubertal children and splenic peliosis in two patients. Liver enzymes were elevated in both androgen-treated and untreated patients, suggesting underlying liver involvement in DC. This study suggests that androgen therapy can be effectively used to treat bone marrow failure in DC, but that side effects need to be closely monitored.
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DOI：
10.1182/asheducation-2011.1.480
发表时间：
2011-12-01
期刊：
HEMATOLOGY-AMERICAN SOCIETY HEMATOLOGY EDUCATION PROGRAM
影响因子：
--
作者：
Dokal, Inderjeet
通讯作者：
Dokal, Inderjeet
影响因子：
3.6
作者：
Vulliamy, Tom;Dokal, Inderjeet
通讯作者：
Dokal, Inderjeet
DOI：
10.3324/haematol.2011.055269
发表时间：
2012-03-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
--
作者：
Alter, Blanche P.;Rosenberg, Philip S.;Savage, Sharon A.
通讯作者：
Savage, Sharon A.
影响因子：
20.3
作者：
ALLEN, DM;FINE, MH;DAMESHEK, W
通讯作者：
DAMESHEK, W
影响因子：
2.1
作者：
Al-Rahawan, MM;Giri, N;Alter, BP
通讯作者：
Alter, BP