Fanconi anemia - learning from children
Fanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogen...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2011-06-01
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| Series: | Pediatric Reports |
| Online Access: | https://www.pagepress.org/journals/index.php/pr/article/view/2825 |
| _version_ | 1818600845015515136 |
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| author | Johanna Svahn Carlo Dufour |
| author_facet | Johanna Svahn Carlo Dufour |
| author_sort | Johanna Svahn |
| collection | DOAJ |
| description | Fanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) can appear before aplastic anemia. Squamous cell carcinoma (SCC) of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA. |
| first_indexed | 2024-12-16T12:41:57Z |
| format | Article |
| id | doaj.art-09bc0dc97c1547a0a0428bfa830c6616 |
| institution | Directory Open Access Journal |
| issn | 2036-749X 2036-7503 |
| language | English |
| last_indexed | 2024-12-16T12:41:57Z |
| publishDate | 2011-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pediatric Reports |
| spelling | doaj.art-09bc0dc97c1547a0a0428bfa830c66162022-12-21T22:31:24ZengMDPI AGPediatric Reports2036-749X2036-75032011-06-01e8e810.4081/pr.2011.s2.e82825Fanconi anemia - learning from childrenJohanna Svahn0Carlo DufourPAGEPress Office, PaviaFanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) can appear before aplastic anemia. Squamous cell carcinoma (SCC) of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA.https://www.pagepress.org/journals/index.php/pr/article/view/2825 |
| spellingShingle | Johanna Svahn Carlo Dufour Fanconi anemia - learning from children Pediatric Reports |
| title | Fanconi anemia - learning from children |
| title_full | Fanconi anemia - learning from children |
| title_fullStr | Fanconi anemia - learning from children |
| title_full_unstemmed | Fanconi anemia - learning from children |
| title_short | Fanconi anemia - learning from children |
| title_sort | fanconi anemia learning from children |
| url | https://www.pagepress.org/journals/index.php/pr/article/view/2825 |
| work_keys_str_mv | AT johannasvahn fanconianemialearningfromchildren AT carlodufour fanconianemialearningfromchildren |