Gaucher cuta - a hereditary cuta na sia metabolism

Hereditary cututtuka metabolism sukan hade da inborn kurakurai na enzyme kira. Shi ne ba togiya da Gaucher cuta.

Gaucher cuta - a nakasar hereditary cuta, wanda ake dangantawa da illa sia metabolism. A sakamakon wannan Pathology ne ya lura jari a wasu kasusuwa da kuma gabobin da takamaiman mai adibas.

A cikin jikin mutum akwai dubban daban-daban aiki abubuwa, da ake kira enzymes, ko, kamar yadda muka saba wa ji enzymes. Daya daga cikin wadannan abubuwa - glyukotseribrozidaza, a sakamakon wani irin mai (glucocerebroside) ta inganta cikin tsakiyan nonon mata na kwayoyin. Gaucher cuta - wani sosai rare cuta da aka gani a kawai 'yan dubu mutane a dukan duniya. A daidai wannan rashin lafiya a marasa lafiya glyukotseribrozidazy sosai kadan. A sakamakon enzyme kasawa a cikin jikin tara Gaucher Kwayoyin, wanda ake tattara nerasschiplennye kitsen kwayoyin.

Masana sun fissile Gaucher cuta ta 3 iri:

Type 1 ne ya fi kowa nau'i na cutar. Babban halayyar da iri-iri, wani ɓangare na hereditary rayuwa cuta - rasa neyronopatii. Domin mafi yawan mutane, yana daukan kadan ko ba cututtuka. Amma shi ne ya kamata a lura da cewa wasu marasa lafiya na iya samun wani ƙwarai da gaske ko rai-barazanar bayyanar cututtuka. Kana bukatar kuma ka san cewa cikin juyayi tsarin da kwakwalwa ba ya canzawa.

Type 2 auku kasa akai-akai fiye da na farko da irin, amma yana da wani mafi tsanani cututtuka, wanda tasowa a cikin shekarar farko na rayuwa, da kuma kaiwa zuwa wani pronounced neurological cuta (m neyronopatiya), kazalika da sauran cututtuka. Mafi yawa daga cikin marasa lafiya ba za su rayu har zuwa shekaru biyu.

Type 3 ne ma quite rare, amma ba kasa da na biyu da irin. Ga shi kuma an halin da bayyanar neurological bayyanar cututtuka, amma suka ba su saboda haka bayyana, kamar yadda a karo na biyu da irin Gaucher cuta (na kullum neyronopatiya). A farko bayyanar cututtuka za a iya lura a cikin shimfiɗar jariri, amma marasa lafiya za su iya rayuwa ga tsufa.

Babban bayyanar cututtuka

Gaucher ta cuta, kamar yadda aka ambata a sama take kaiwa zuwa da cewa a cikin kayan ciki, da kuma sau da yawa a cikin hanta, bargo da kuma seleznke tara Gaucher Kwayoyin. Wannan take kaiwa zuwa gaskiya cewa hukumomi suna kara a size, zai fara anemia, kazalika da yawa wasu cututtuka bayyana. Biyu da na uku irin cuta halin da raunuka na juyayi tsarin da kwakwalwa musamman.

Gaucher cuta, wani photo na wanda aka gabatar a wannan labarin ba jima'i-nasaba. A symptomatology na iya faruwa a kowane zamani, amma shi ne ya kamata a lura da cewa na biyu da na uku irin sun fi na kowa a cikin yara. Kamar yadda wannan cuta ne da Bã zaman kanta da tseren ba, amma, bisa ga statistics, mafi sau da yawa fallasa su da wannan cuta Ashkenazi Yahudawa.

Yana da daraja ambaton cewa wannan shi ne wani hereditary cuta ne mai hadarin gaske. Saboda haka, idan ka iyali tarihi na hereditary fermentopathy wannan, to, kana bukatar ganin wani gwani wanda zai iya taimaka ƙayyade ko wannan cuta kana da.