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Wilsonen eritasuna larruazalaren eritasuna da, dermatitis mota bat. Herentziaz transmititzen da, eta gibelaren zirrosiari dagozkion ezaugarriak ditu. Kobrearen metabolismoa murrizten da eta zeruloplasmina gutxiagotzen.[1]
Wilsonen eritasuna | |
---|---|
Kayser-Fleischerren eraztuna, Wilsonen eritasunaren ezaugarrietako bat | |
Deskribapena | |
Mota | gibel-gaixotasuna, metal metabolism disorder (en) , copper metabolism disease (en) , Buru-nahasmendu organikoa, rare hereditary metabolic disease with peripheral neuropathy (en) , metabolic disease with cataract (en) , metabolic disease with corneal opacity (en) , supranuclear oculomotor palsy (en) , dardara, rare genetic tremor disorder (en) , rare metabolic liver disease (en) , metal transport or utilization disorder with epilepsy (en) , rare genetic epilepsy (en) , neurometabolic disease (en) , rare disorder with dystonia and other neurologic or systemic manifestation (en) , nephropathy secondary to a storage or other metabolic disease (en) eritasuna |
Espezialitatea | endokrinologia |
Arrazoia(k) | Genetika |
Sintoma(k) | Edema, Ikterizia, nortasuneko aldaketak, blue nails (en) , face of the giant panda sign (en) Kayser–Fleischer ring (en) |
Asoziazio genetikoa | |
Honen izena darama | Samuel Alexander Kinnier Wilson (en) |
Tratamendua | |
Erabil daitezkeen botikak | triethylenetetramine (en) , D-penizilamina eta triethylenetetramine (en) |
Identifikatzaileak | |
GNS-10-MK | E83.0 |
GNS-9-MK | 275.1 |
GNS-10 | E83.0 |
GNS-9 | 275.1 |
OMIM | 277900 |
DiseasesDB | 14152 |
MedlinePlus | 000785 |
eMedicine | med/2413 neuro/570 ped/2441 |
MeSH | D006527D006527 |
GeneReviews | |
Disease Ontology ID | DOID:893 |
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