Clinical features of dyskeratosis congenita in mainland China: case reports and literature review
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 hospit...
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| Published in | International journal of hematology Vol. 109; no. 3; pp. 328 - 335 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
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Tokyo
Springer Japan
01.03.2019
Springer Nature B.V |
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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. |
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| AbstractList | 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. 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. |
| Author | Qiao, Xiaohong Li, Wei Xie, Xiaotian Li, Fuxing |
| Author_xml | – sequence: 1 givenname: Fuxing orcidid: 0000-0001-6585-8452 surname: Li fullname: Li, Fuxing email: liming_dog@163.com organization: Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine – sequence: 2 givenname: Wei surname: Li fullname: Li, Wei organization: Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine – sequence: 3 givenname: Xiaohong surname: Qiao fullname: Qiao, Xiaohong organization: Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine – sequence: 4 givenname: Xiaotian surname: Xie fullname: Xie, Xiaotian email: xtxie@163.com organization: Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30604317$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1080_17474086_2019_1662720 crossref_primary_10_1016_j_tig_2019_07_004 crossref_primary_10_2478_bjmg_2021_0027 crossref_primary_10_1186_s12887_023_04324_3 crossref_primary_10_3389_fonc_2022_949435 crossref_primary_10_1080_16078454_2022_2120305 crossref_primary_10_2147_CCID_S371794 |
| Cites_doi | 10.1016/j.blre.2010.03.002 10.1111/j.1365-2141.2008.07516.x 10.1097/GIM.0b013e3181f415b5 10.1016/j.hoc.2009.01.003 10.1016/j.cancergen.2011.11.002 10.1046/j.1365-2141.2000.02109.x 10.1111/j.1399-3046.2007.00721.x 10.1111/bjh.12748 10.1016/j.hoc.2018.04.003 10.1111/bjh.13853 10.1002/pbc.22061 10.1097/MOH.0b013e3282fa7470 10.1002/ajh.24545 10.1038/ejhg.2011.90 10.1182/blood-2008-12-192880 10.1586/ehm.13.23 10.1046/j.1365-2141.1998.01103.x 10.1016/j.bbadis.2009.01.010 10.1007/s12308-011-0089-5 10.1111/j.1365-2141.2009.07598.x 10.1007/s12185-015-1861-6 10.1182/asheducation-2011.1.480 10.1007/s12185-010-0695-5 10.1136/bmj.2.6200.1305 10.2147/TACG.S58444 10.1097/MOH.0000000000000290 10.1542/peds.67.6.898 |
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| Keywords | Dyskeratosis congenita Clinical feature Bone marrow failure syndrome China Aplastic anemia |
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| Title | Clinical features of dyskeratosis congenita in mainland China: case reports and literature review |
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