Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood
BackgroundDyskeratosis 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 childh...
| المؤلفون الرئيسيون: | , , , , , , , |
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| التنسيق: | مقال |
| اللغة: | English |
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Frontiers Media S.A.
2023-08-01
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| سلاسل: | Frontiers in Pediatrics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full |
| _version_ | 1827888917661089792 |
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| author | M. L. Uria-Oficialdegui S. Navarro L. Murillo-Sanjuan C. Rodriguez-Vigil M. I. Benitez-Carbante C. Blazquez-Goñi J. A. Salinas C. Diaz-de-Heredia |
| author_facet | M. L. Uria-Oficialdegui S. Navarro L. Murillo-Sanjuan C. Rodriguez-Vigil M. I. Benitez-Carbante C. Blazquez-Goñi J. A. Salinas C. Diaz-de-Heredia |
| author_sort | M. L. Uria-Oficialdegui |
| collection | DOAJ |
| description | BackgroundDyskeratosis 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 methodsMulticenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020).ResultsFourteen 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.ConclusionsDC 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. |
| first_indexed | 2024-03-12T20:40:39Z |
| format | Article |
| id | doaj.art-eeed63e4b51a41bebf82eaff5aca1b09 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-12T20:40:39Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-eeed63e4b51a41bebf82eaff5aca1b092023-08-01T10:51:38ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-08-011110.3389/fped.2023.11824761182476Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhoodM. L. Uria-Oficialdegui0S. Navarro1L. Murillo-Sanjuan2C. Rodriguez-Vigil3M. I. Benitez-Carbante4C. Blazquez-Goñi5J. A. Salinas6C. Diaz-de-Heredia7Pediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, SpainPediatric Division, Hospital Universitario SonEspases, Palma de Mallorca, SpainPediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, SpainPediatric Oncohaematology Unit, Paediatric Division, Hospital Universitario Miguel Servet, Zaragoza, SpainPediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, SpainHematology Division, Hospital Virgen del Rocío, Sevilla, SpainPediatric Division, Hospital Universitario SonEspases, Palma de Mallorca, SpainPediatric Hematology and Oncology Division, Hospital Universitari Vall d´Hebron, Barcelona, SpainBackgroundDyskeratosis 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 methodsMulticenter, retrospective, longitudinal study conducted in patients followed up to 24 years since being diagnosed in childhood (between 1998 and 2020).ResultsFourteen 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.ConclusionsDC 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.https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/fulldyskeratosis congenitatelomeresinherent bone marrow failuremultisystem diseaseaplastic anaemiahematopoeietic stem cell transplantation |
| spellingShingle | M. L. Uria-Oficialdegui S. Navarro L. Murillo-Sanjuan C. Rodriguez-Vigil M. I. Benitez-Carbante C. Blazquez-Goñi J. A. Salinas C. Diaz-de-Heredia Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood Frontiers in Pediatrics dyskeratosis congenita telomeres inherent bone marrow failure multisystem disease aplastic anaemia hematopoeietic stem cell transplantation |
| title | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| title_full | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| title_fullStr | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| title_full_unstemmed | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| title_short | Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| title_sort | dyskeratosis congenita natural history of the disease through the study of a cohort of patients diagnosed in childhood |
| topic | dyskeratosis congenita telomeres inherent bone marrow failure multisystem disease aplastic anaemia hematopoeietic stem cell transplantation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full |
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