Ra'ayin Rashin Halittar Halitta wanda Mafi Saurin Ya shafi Maza
Mucopolysaccharidosis type II (MPS II), wanda aka fi sani da Hunter ciwo, shi ne cuta wanda ya gaji wanda zai haifar da raguwa daga iduronate-2-sulfatase (I2S). I2S yana cikin ɓarnawar ƙwayoyin carbohydrates masu yawa da ake kira mucopolysaccharides. Ba tare da isasshen I2S ba, ƙananan mucopolysaccharides sun rushe a cikin gabobin jiki da kyallen jikin mutum kuma sun zama mai guba.
Ciwo na Hunter wani cuta ne na X, wanda ke nufin cewa ana daukar shi akan X chromosome daga mahaifiyarta ga 'ya'yanta. Saboda yadda cutar ta Hunter ta gaji, yanayin yafi kowa a cikin maza-duk da cewa mata, a cikin mawuyacin hali, zasu iya gaji yanayin. Ciwo na Hunter zai iya faruwa a kowace kabila. An yi la'akari da yanayin da ya fi girma a tsakanin mutanen Yahudawa da suke zaune a Isra'ila. Yanayin ya faru a cikin 1 zuwa 100 zuwa 1 a cikin maza 150,000.
Akwai nau'i biyu na Hunter-farkon-farkon da marigayi.
Early-Startset MPS II
Hanyar mummunan cututtuka na Hunter, da farko, an gano shi a cikin yara masu shekaru 18 zuwa 36. Rayuwa na rayuwa ga wannan nau'i na iya bambanta, tare da wasu yara masu rai har zuwa na biyu da na shekaru talatin na rayuwa. Kwayar cututtuka na farko-farkon cutar na iya hada da:
- manyan siffofin fuska da gajere
- ƙara hanta da kuma yalwatawa
- ci gaba da zurfin tunanin mutum
- Ƙunƙarar launi na hauren giwa a gefen sama da bangarorin ƙananan hannu da cinya
- skeletal canje-canje, haɗin gwiwa, wuyan gajeren wuyansa, m kirji, da kuma babban kai
- ci gaba mai duhu
- ƙananan retinitis pigmentosa da rashin gani
Wadannan bayyanar cututtuka sunyi kama da wadanda ke fama da cutar Hurler . Duk da haka, ciwowar Hurler bayyanar cututtuka ya ci gaba da sauri kuma ya fi muni fiye da irin ciwowar Hunter da farko.
Kwanan baya MPS II
Irin wannan ciwo na Hunter ya fi muni fiye da farkon-farkon kuma baza a iya gano shi ba har sai da girma. Mutanen da ke dauke da irin wannan cuta suna da tsawon rai kuma zasu rayu cikin 70s. Abubuwan siffofi na jiki suna kama da waɗanda suke tare da MPS II mai tsanani; duk da haka, mutane da marigayi MPS II suna da masaniya na al'ada kuma basu da matsalar matsaloli mai tsanani irin nau'in.
Sanin asali
Don ciwo mai tsanani na Hunter, bayyanar yaron da aka hada da sauran alamomi kamar karaɗa hanta da kuma yalwa da launin fata na launin hauren giya (dauke da alama ga ciwo) zai iya nuna cewa yaro yana da mucopolysaccharidosis. Mawuyacin rashin ciwo mai tsanani yana da wuya a gane, kuma ana iya ganewa yayin kallon dangin mahaifiyar yaro da ciwon Hunter.
A kowane nau'in, za'a iya tabbatar da ganewar asali ta gwajin jini don raunin I2S. Nazarin ilimin enzyme ko gwajin kwayoyin don canje-canje a cikin sashin sulhu na sulfatase zai iya gane asalin yanayin. Mucopolysaccharides na iya kasancewa a cikin fitsari. Rikodin X-rayuka na iya bayyana sifofin canji na halin Hunter.
Biyan MPS II
A halin yanzu, babu magani don ciwon Hunter.
Ana kula da kula da lafiyar don kawar da bayyanar cututtuka na MPS II. Jiyya tare da Elaprase (idursulfase) ya maye gurbin I2S cikin jiki kuma yana taimakawa wajen rage bayyanar cututtuka da zafi. Ƙungiyar na numfashi na iya zama wanda aka katse, saboda haka kulawa da kulawa mai mahimmanci yana da mahimmanci. Jiki na jiki da kuma motsa jiki kullum suna da muhimmanci. Mutane da yawa masu sana'a suna cikin kulawa da mutum da ciwon Hunter. Mai ba da shawara mai ba da shawara zai iya ba da shawara ga dangi da dangi game da hadarin da ke fama da ciwo.
Sources:
MPS II (Hunter ciwo) MPS da cututtuka da suka shafi. Ƙungiyar Ƙungiyar ta MPS.
Ma'anar Gidajen Genetics. Mucopolysaccharidosis type II.