View source for Fanconi's anemia

'''Fanconi anemia''' is a genetic disease with predominantly hematological symptoms.

{{Cave|Neplést s [[Fanconiho syndrom]]em, což je jiné onemocnění.}}'''Don't get confused with [[Fanconi's syndrome]] , which is another disease.'''

* Etiologically, [[Mutation|mutations]] in one of the group of [[Gene|genes]] (FANCA, FANCB, -C, -D1, -D2, -E, -F, -G, -J, -L, -M, -N, -O, -P) . The products of these [[Protein coding and non-coding sequences of DNA|proteins]] are involved in [[DNA repair]] .
* Significant chromosome instability, probably associated with numerous structural aberrations, which probably contributes to the higher incidence of [[Leukemias, Student classification|leukemias]] in affected individuals, is probably also important.
* The disease is [[Autosomal recessive inheritance in pedigree and experiment, examples of traits in man|autosomal recessively]] inherited or X-linked.

===Clinical Manifestations===

* It usually manifests around the age of 7, sometimes right after birth. The form with minimal physical manifestations, usually diagnosed around the age of 30, is called Estren-Dameshek.
* [[pancytopenia]] , more often as a primary capture of partial (thrombo- or leukopenia) before the development of complete bone marrow failure. Over time, cytopenia deepens. Macrocytic erythropoiesis in hypocellular, dysplastic, fat-altered bone marrow, sometimes developed MDS or AML can be detected.
* '''growth disorders ,'''
* '''developmental anomalies of the upper limb or thumb'''
* '''mental disorders ,'''
* '''typical dysmorphic facial features - wide nasal root, epicants, micrognathia'''
* '''hypogonadism in men'''
* '''[[deafness]]''' 
* '''brown skin pigmentation ,'''
* eye and '''kidney [[hypoplasia]]'''
* '''tendency to malignant transformation''' - the most common are [[Leukemias, Student classification|leukemia]] or [[myelodysplastic syndrome]] , in adulthood then solid tumors, especially of the head and neck.

===Diagnostics===

* In peripheral blood [[leukopenia]] with [[thrombocytopenia]] , [[anemia]] is normocytic or slightly macrocytic.
* The bone marrow is initially hyperplastic with dysplasia in erythropoiesis, proliferation of [[plasma cells]] and [[Mast cell|mast cells]] .
* As the disease progresses, severe marrow hypoplasia occurs.
* Elevated fetal hemoglobin and cytogenetic abnormalities are typical features.
* Chromosome fragility assay with diepoxybutane (DEB) or Mitomycin C (MMC) performed on peripheral cells. blood.

===Treatment===

* Allogeneic bone marrow transplantation from an HLA-related donor (LD regime Cyclophosphamide + radiotherapy) is the only curative modality, umbilical cord blood cell transplants have also been successfully performed. Until then, androgens in combination with corticoids (balancing the anabolic effect of androgens with the catabolic effect of corticoids) and G-CSF substitution (in chronic application, however, Risk of leukemic clone stimulation and / or stem cell capacity depletion can be used temporarily with benefit).

==Links==
===Related Articles===

* [[Chromosomal instability|Chromosomal instability syndromes]]
* [[Tumors with familial occurrence|Hereditary tumor syndromes]]
** [[Neurofibromatosis]]
** [[Wilms' tumor]]

===Source===

* ŠÍPEK, Antonín. ''Genetic diseases''  [online]. Last revision June 8, 2007, [cited. April 17, 2010]. < http://www.genetika-biologie.cz/hereditarni-nadorove-syndromy >.

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===Reference Litrature===

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*

* KLEIBL, Zdeněk and Jan NOVOTNÝ. ''Hereditary tumor syndromes. ''1st edition. Prague: Triton, 2003. 31 pp.  <nowiki>ISBN 80-7254-357-1</nowiki> .

* PENKA, Miroslav. ''Hematology. I, Neoncological hematology. ''1st edition. Prague: Grada, 2001.  <nowiki>ISBN 80-247-0023-9</nowiki> .

* Griffin P Rodgers, Neal S. Young: The Bethesda Handbook of Clinical Hematology, Third Edition by Lippincott, Williams and Wilkins, 2013, ISBN 987-1-4511-8270-5

[[Category:Hematology]]
[[Category:Pathophysiology]]
[[Category:Oncology]]