دورية أكاديمية
Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.
| العنوان: | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood. |
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| المؤلفون: | Uria-Oficialdegui ML; Pediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, Spain., Navarro S; Pediatric Division, Hospital Universitario SonEspases, Palma de Mallorca, Spain., Murillo-Sanjuan L; Pediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, Spain., Rodriguez-Vigil C; Pediatric Oncohaematology Unit, Paediatric Division, Hospital Universitario Miguel Servet, Zaragoza, Spain., Benitez-Carbante MI; Pediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, Spain., Blazquez-Goñi C; Hematology Division, Hospital Virgen del Rocío, Sevilla, Spain., Salinas JA; Pediatric Division, Hospital Universitario SonEspases, Palma de Mallorca, Spain., Diaz-de-Heredia C; Pediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, Spain. |
| المصدر: | Frontiers in pediatrics [Front Pediatr] 2023 Aug 01; Vol. 11, pp. 1182476. Date of Electronic Publication: 2023 Aug 01 (Print Publication: 2023). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Media SA, [2013]- |
| مستخلص: | Background: Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in childhood and followed up for a long period of time. Material and Methods: Multicenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020). Results: Fourteen patients were diagnosed with DC between the ages of 3 and 17 years (median, 8.5 years). They all had hematologic manifestations at diagnosis, and nine developed mucocutaneous manifestations during the first decade of life. Seven presented severe DC variants. All developed non-hematologic manifestations during follow-up. Mutations were identified in 12 patients. Thirteen progressed to bone marrow failure at a median age of 8 years [range, 3-18 years], and eight received a hematopoietic stem cell transplant. Median follow-up time was 9 years [range, 2-24 years]. Six patients died, the median age was 13 years [range, 6-24 years]. As of November 2022, eight patients were still alive, with a median age of 18 years [range, 6-32 years]. None of them have developed myeloblastic syndrome or cancer. Conclusions: DC was associated with high morbidity and mortality in our series. Hematologic manifestations appeared early and consistently. Non-hematologic manifestations developed progressively. No patient developed cancer possibly due to their young age. Due to the complexity of the disease multidisciplinary follow-up and adequate transition to adult care are essential. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (© 2023 Uria-Oficialdegui, Navarro, Murillo-Sanjuan, Rodriguez-Vigil, Benitez-Carbante, Blazquez-Goñi, Salinas and Diaz-de-Heredia.) |
| References: | Haematologica. 2018 Jan;103(1):30-39. (PMID: 29051281) Biol Blood Marrow Transplant. 2013 Aug;19(8):1238-43. (PMID: 23751955) PLoS One. 2014 Nov 19;9(11):e113747. (PMID: 25409313) Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. (PMID: 16247010) Br J Haematol. 2013 Sep;162(6):854-6. (PMID: 23782100) Blood. 2022 Aug 25;140(8):909-921. (PMID: 35776903) Br J Haematol. 2000 Sep;110(4):768-79. (PMID: 11054058) Expert Rev Hematol. 2022 Aug;15(8):685-696. (PMID: 35929966) Blood. 2022 Mar 24;139(12):1807-1819. (PMID: 34852175) Br J Haematol. 2007 Sep;138(6):815-7. (PMID: 17760812) Br J Haematol. 1999 Nov;107(2):335-9. (PMID: 10583221) Mutat Res. 2012 Feb 1;730(1-2):43-51. (PMID: 21745483) Acta Paediatr Scand. 1970 Mar;59(2):185-91. (PMID: 5442429) J Med Genet. 1992 Sep;29(9):673-5. (PMID: 1404302) Expert Rev Hematol. 2019 Dec;12(12):1037-1052. (PMID: 31478401) Expert Rev Hematol. 2013 Jun;6(3):327-37. (PMID: 23782086) Blood. 2006 Apr 1;107(7):2680-5. (PMID: 16332973) Pediatr Blood Cancer. 2021 Oct;68(10):e29177. (PMID: 34086408) J Blood Med. 2014 Aug 21;5:157-67. (PMID: 25170286) Nat Rev Genet. 2012 Oct;13(10):693-704. (PMID: 22965356) Nat Genet. 1998 May;19(1):32-8. (PMID: 9590285) Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. (PMID: 22160078) Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. (PMID: 36485133) Semin Hematol. 2013 Oct;50(4):333-47. (PMID: 24246701) Nat Genet. 2004 May;36(5):447-9. (PMID: 15098033) Nature. 1999 Dec 2;402(6761):551-5. (PMID: 10591218) Br J Haematol. 2014 May;165(3):349-57. (PMID: 24666134) Transl Res. 2013 Dec;162(6):353-63. (PMID: 23732052) Br J Haematol. 2018 Oct;183(1):110-118. (PMID: 29984823) |
| فهرسة مساهمة: | Keywords: aplastic anaemia; dyskeratosis congenita; hematopoeietic stem cell transplantation; inherent bone marrow failure; multisystem disease; telomeres |
| تواريخ الأحداث: | Date Created: 20230818 Latest Revision: 20230823 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC10427857 |
| DOI: | 10.3389/fped.2023.1182476 |
| PMID: | 37593443 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2296-2360 |
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| DOI: | 10.3389/fped.2023.1182476 |