A case of dyskeratosis congenita with obvious splenomegaly and hypoxemia as the first manifestations

doi:10.3760/cma.j.issn.1007-1245.2023.17.023

International Medicine and Health Guidance News ›› 2023, Vol. 29 ›› Issue (17): 2472-2475.DOI: 10.3760/cma.j.issn.1007-1245.2023.17.023

• Case Report • Previous Articles Next Articles

A case of dyskeratosis congenita with obvious splenomegaly and hypoxemia as the first manifestations

Liu Lijuan¹, Niu Qiong¹, Cheng Xianyong¹, Gao Yu², Liu Chengxia¹

¹Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou 256603, China; ²Department of Dermatology & STD, Binzhou Medical University Hospital, Binzhou 256603, China

Received:2022-12-31 Online:2023-09-01 Published:2023-09-21
Contact: Liu Chengxia, Email: byfyliulj@163.com

以明显脾大及低氧血症为首发表现的先天性角化不良1例

刘丽娟¹ 牛琼¹ 程宪永¹ 高昱² 刘成霞¹

¹滨州医学院附属医院消化内科，滨州　256603；²滨州医学院附属医院皮肤与性病科，滨州　256603

通讯作者: 刘成霞，Email：byfyliulj@163.com

Abstract

Abstract:

Dyskeratosis congenita is a rare genetic disease. This paper reported a case of adolescent with dyskeratosis congenita with obvious splenomegaly, portal hypertension, and hypoxemia as the first manifestations in Binzhou Medical University Hospital, and discussed the diagnostic thinking of dyskeratosis congenita and the doubts and difficulties of this case.

Key words:

Dyskeratosis congenita, Esophageal stenosis, Splenomegaly and hypersplenism, Portal hypertension

摘要：

先天性角化不良是临床上一种罕见的遗传性疾病。本文报道滨州医学院附属医院1例以明显脾肿大、门静脉高压、低氧血症为首发表现的先天性角化不良的青少年病例，并且就先天性角化不良的诊断思维及本病例的疑点、难点展开讨论。

关键词:

先天性角化不良, 食管狭窄, 脾肿大和脾功能亢进, 门静脉高压

Liu Lijuan, Niu Qiong, Cheng Xianyong, Gao Yu, Liu Chengxia.

A case of dyskeratosis congenita with obvious splenomegaly and hypoxemia as the first manifestations [J]. International Medicine and Health Guidance News, 2023, 29(17): 2472-2475.

刘丽娟牛琼程宪永高昱刘成霞.

以明显脾大及低氧血症为首发表现的先天性角化不良1例 [J]. 国际医药卫生导报, 2023, 29(17): 2472-2475.

References

[1] Iraji F, Jamshidi K, Pourazizi M, et al. Dyskeratosis congenita without oral involvement: a rare hereditary disease[J]. Oman Med J,2015,30(3):212-215.DOI:10.5001/omj.2015.44.
[2] Fukuhara A, Tanino Y, Ishii T, et al. Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation[J]. Eur Respir J,2013,42(6):1757-1759.DOI:10.1183/09031936. 00149113.
[3] Shin S, Suh DI, Ko JM, et al. Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita[J]. Pediatr Transplant,2021,25(2):e13802.DOI:10.1111/petr.13802.
[4] Sölder B, Weiss M, Jäger A, et al. Dyskeratosis congenita: multisystemic disorder with special consideration of immunologic aspects. A review of the literature[J]. Clin Pediatr (Phila),1998,37(9):521-530.DOI:10.1177/000992289803700901.
[5] Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres[J]. Biochim Biophys Acta,2009,1792(4):371-379.DOI:10.1016/j.bbadis.2009.01.010.
[6] Dokal I. Dyskeratosis congenita[J]. Hematology Am Soc Hematol Educ Program,2011,2011:480-486.DOI:10.1182/asheducation-2011.1.480.
[7] Mason PJ, Bessler M. The genetics of dyskeratosis congenita[J]. Cancer Genet,2011,204(12):635-645.DOI:10.1016/j.cancergen.2011.11.002.
[8] 黄茂欣,于建斌,刘莉娜,等. 常染色体隐性遗传先天性角化不良一例及TERT基因突变研究[J]. 中华皮肤科杂志,2020,53(11):875-879.DOI:10.35541/cjd.20200057.
[9] Nishio N, Kojima S. Recent progress in dyskeratosis congenita[J]. Int J Hematol,2010,92(3):419-424.DOI:10.1007/s12185-010-0695-5.
[10] 万扬,安文彬,张家源,等. 八例先天性角化不良伴骨髓衰竭患儿的临床特征及基因分析[J]. 中华血液学杂志,2016,37(3):216-220.DOI:10.3760/cma.j.issn.0253-2727.2016. 03.008.
[11] Ratnasamy V, Navaneethakrishnan S, Sirisena ND, et al. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report[J]. BMC Med Genet,2018,19(1):85.DOI:10.1186/s12881-018-0584-y.
[12] Du H, Guo Y, Ma D, et al. A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita[J]. Medicine (Baltimore),2018,97(19):e0724.DOI:10.1097/MD.0000000000010724.
[13] Otoshi R, Baba T, Shintani R, et al. Diverse pathological findings of interstitial lung disease in a patient with dyskeratosis congenita[J]. Intern Med,2021,60(8):1257-1263.DOI:10.2169/internalmedicine.5143-20.
[14] 张凯,李慧,路尧,等. 先天性角化不良合并肺间质纤维化一例[J]. 中华结核和呼吸杂志,2015,38(9):701-703.DOI:10.3760/cma.j.issn.1001-0939.2015.09.021.
[15] Alter BP, Giri N, Savage SA, et al. Cancer in dyskeratosis congenita[J]. Blood,2009,113(26):6549-6557.DOI:10.1182/blood-2008-12-192880.
[16] Alsabbagh MM. Dyskeratosis congenita: a literature review[J]. J Dtsch Dermatol Ges,2020,18(9):943-967.DOI:10.1111/ddg.14268.
[17] Blackburn EH, Epel ES, Lin J. Human telomere biology: a contributory and interactive factor in aging, disease risks, and protection[J]. Science,2015,350(6265):1193-1198.DOI:10.1126/science.aab3389.
[18] 黄珍,陈敏,李原,等. 一例先天性角化不良患儿的基因变异研究[J]. 中华医学遗传学杂志,2020,37(1):86-88.DOI:10.3760/cma.j.issn.1003-9406.2020.01.023.
[19] Dokal I, Vulliamy T, Mason P, et al. Clinical utility gene card for: dyskeratosis congenita - update 2015[J]. Eur J Hum Genet,2015,23(4).DOI:10.1038/ejhg.2014.170.
[20] De Cario R, Kura A, Suraci S, et al. Sanger validation of high-throughput sequencing in genetic diagnosis: still the best practice?[J].Front Genet,2020,11:592588.DOI:10.3389/fgene.2020.592588.
[21] Liu L, Li Y, Li S, et al. Comparison of next-generation sequencing systems[J]. J Biomed Biotechnol,2012:251364.DOI:10.1155/2012/251364.
[22] Marine RL, Magaña LC, Castro CJ, et al. Comparison of Illumina MiSeq and the Ion Torrent PGM and S5 platforms for whole-genome sequencing of picornaviruses and caliciviruses[J]. J Virol Methods,2020,280:113865.DOI:10.1016/j.jviromet.2020.113865.
[23] Agarwal S. Evaluation and management of hematopoietic failure in dyskeratosis congenita[J]. Hematol Oncol Clin North Am,2018,32(4):669-685.DOI:10.1016/j.hoc.2018. 04.003.

A case of dyskeratosis congenita with obvious splenomegaly and hypoxemia as the first manifestations

以明显脾大及低氧血症为首发表现的先天性角化不良1例

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