Kehitysvammahuollon tietopankki
 | Anemia, pienikokoisuus, sydänvika ja kehitysvamma |
Iho on kalpea ja helposti ruhjoutuva. Pigmenttimuutokset, ylipigmentoituminen ja maitokahvin väriset läiskät ovat tavanomaisia. Pää voi olla pienikokoinen, samoin kuin leuka. Silmävärve, korvien epämuotoisuus ja kuurous ovat osa sairautta.
Munuaisepämuodostumat kuuluvat niinikään taudinkuvaan. Kaksoismunuainen, hevosenkenkämunuainen ja munuaisten puutuminen saattavat nekin kuulua oireisiin.
Fanconin anemiassa verihiukkasten vähentyminen ja retikuloottien sekä neuronisolujen kato ovat tyypillisiä piirteitä. Sairauden A-tyypissä geenvirheen alue (16q24.3) sijaitsee 16. kromosomissa. C-tyypissä perimäaineen virhe on 9. kromisomissa geenialueella 9q22.3 ja D-tyypissä taas 3. kromosomissa alueella 3p26-p22. E-tyypissä geenivirhe on paikannettu 6. kromosomiin (6p22-p21). Arvioidaan, että tautityyppejä tai taudin komplementtityyppejä olisi kaikkiaan kahdeksan. Niidenkin sisällä esiintyy vielä erilaisia variantteja (vastingeenimuunnelmia).
Fanconin anemia on yleisin Etelä-Afrikan valkoisen väestön piirissä (1/22.000 asukasta kohti) ja Ashkenazi-juutalaisväestön piirissä Israelissa (/30.000). Muualla esiintyvyys on luokkaa 1/360.000. Guido Fanconi kuvasi sairauden ensimmäisenä v. 1927. Sen jälkeen siitä on läydetty useita muunnelmia. Kaikille on ollut yhteistä peittyvä periytyvyys.
Lisätietoja:
Anemia, Fanconi, eMedicine
FANCONI ANEMIA; FA, OMIM
FANCONI ANEMIA,
COMPLEMENTATION GROUP A; FANCA, OMIM
FANCONI ANEMIA,
COMPLEMENTATION GROUP B; FANCB, OMIM
FANCONI ANEMIA,
COMPLEMENTATION GROUP C; FANCC, OMIM
FANCONI ANEMIA,
COMPLEMENTATION GROUP D; FANCD, OMIM
FANCONI ANEMIA,
COMPLEMENTATION GROUP E; FANCE, OMIM
Fanconi Anemia Research Fund Home Page
Fanconi Mutation Database
Fanconi Anemia,
Jewish Genetic Diseases, A Mazornet Guide
Fanconi Anemia, Family
Village
Fanconi anemia
Yahoo! Directory Fanconi Anemia
Images in
clinical medicine. Some features of Fanconi's anemia, Hagerman DA, Williams GP,
The New England Journal of Medicine 1993 Oct 14;329(16):1168
Fanconi anemia genes are
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Matthieu Lafrance, Isabelle Brodeur, Marie-Chantal Delisle and Madeleine
Carreau, Blood Disorders 2003, 3:1 doi:10.1186/1471-2326-3-1 - BioMed
Central BMC
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Two complementation groups of Fanconi's anemia differ in their phenotypic
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PubMed
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PubMed
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PubMed
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Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway,
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Evaluation of growth and hormonal status in patients referred to the
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Molecular and genealogical evidence for a founder effect in Fanconi anemia
families of the Afrikaner population of South Africa, Tipping AJ, Pearson T,
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Preimplantation diagnosis for Fanconi anemia combined with HLA matching,
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Cancer incidence in persons with Fanconi anemia, Rosenberg PS, Greene MH, Alter
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A 20-year perspective on the International Fanconi Anemia Registry (IFAR),
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Risk of head and neck squamous cell cancer and death in patients with Fanconi
anemia who did and did not receive transplants, Rosenberg PS, Socie G, Alter BP,
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Kari Viitapohja 29.3.2000, 18.3.200