Fabry cuta: cututtuka, magani, photos

Cutar da ake sa da rashin wani muhimmin enzyme alpha-galactosidase A ake kira Fabry cuta, bayan da masanin kimiyyar da hannu a cikin binciken da kuma bude shi. A karo na farko a maye gurbi a cikin gene da aka bayyana a cikin shekarar 1989 a Ingila.

Karkashin al'ada yanayi, wannan enzyme ne yanzu a kusan dukkanin Kwayoyin na jiki da kuma aka hannu a cikin aiki da lipids. Mutane da suka gaji da m gene, akwai wani buildup na m abubuwa a cikin lysosomes. Daga qarshe, cuta kai wa ga halaka da jijiyoyin bugun gini bango Kwayoyin da kyallen takarda. Fabry cuta - a rare kwayoyin cuta, kuma aka sani da suna "lysosomal ajiya cututtuka".

cututtuka

Cutar, a cewar likita kallo, ya fara bayyana a cikin manya da yara, a pre-da mafarki.

Symptomatology da cuta ne kamar haka:

• Burning da soreness tasowa a cikin extremities, aggravated ta jiki exertion da lamba tare da zafi. Pain ne sau da yawa tare da wani feverish jihohi.
• Rauni. Sau da yawa sosai, wadannan cututtuka suna tare da low yanayi, juyayi, ji na tashin hankali. Marasa lafiya ji da yanayi na tabarbarewar da rashin amincewa a nasu damar iya yin komai, wanda ƙwarai rage ingancin rayuwa.
• Rage sweating.
• Gajiya ƙafafunsa da hannuwanku. Man, tare da ci gaban da cuta, ba zai iya gudanar da wani ko da ya fi talakawa ayyuka kamar yadda fuskantar m gajiya. Guda biyu tare da m majiyai irin cututtuka kai ga kammala gazawan.
• Proteinuria. Malaise, tare da wani ƙara gina jiki tukar tumbi a cikin fitsari. Sau da yawa wani alama sa ba daidai ba ganewar asali.
• Ilimi rashes a gindi, makwancin gwaiwa, lebe, yatsunsu.
• Autonomic cuta.

Aƙalla daya bisa uku na yara a lokaci guda tare da sama da bayyanar cututtuka ci gaba hadin gwiwa ciwo. Child abubuwan girma tsoka zafi, karu a wahayin, rashin zuciya da jijiyoyin jini motsa jiki. Kamar yadda ci gaban enzyme karanci an kiyaye koda cuta, hawan jini. Duk da haka yara da irin wannan ganewar asali ne sosai rare, saboda haka yana da muhimmanci a duk siffofin don aikawa zuwa sana'a cibiyoyin ga jini gwaje-gwaje a kayyade matakin.

Wanda gada da cuta?

Mutane da yawa mamaki yadda Fabry cutar bayyana kanta, abin da yake da shi? A cewar nazarin, likitoci sun zo da wadannan karshe:

• Da cutar zai iya ci gaba a cikin wani mutum, ko da jinsi.
• A gene sa da ci gaba da cutar da aka sarrafa a cikin X-chromosome. Maza suna da daya kawai X-chromosome, kuma idan ta ƙunshi shafa gene, da dama na bunkasa bayyanar cututtuka ne sosai high. Wani mutum ba zai iya aika da da cutar da 'ya'ya maza, amma duk da' ya'yansa mata gãdõn wannan lahani.
• Mãtan suna da biyu X-chromosomes, don haka yiwuwar yada cutar ga yara na ko dai yin jima'i ne 50/50%.
• Alamun sau da yawa faruwa a lokacin kuruciya da kuma samartaka, kazalika da matasa.
• The m gene da aka samu a daya daga cikin 12 000 live haihuwar, cewa shi ne rare.

ganewar asali da cutar

Daidai da ganewar asali ne sau da yawa wuya saboda cuta ne m, kuma ya nuna dukan kewayon asibiti bayyanar cututtuka. Marasa lafiya da ake zargin Fabry cuta ana tuhumarmu da kwararru a daban-daban na asibiti yankunan.

Practical kwarewa ya nuna cewa tsakanin na farko da bayyanar cututtuka da kuma karshe ganewar asali a kan talakawan yana daukan game da shekaru 12. Yana da muhimmanci sosai ga tabbatar da cuta a farkon yiwu don samun dace da magani.

Jinya kamata zargin gaban wannan kayyade rauni, idan wani mutum ya sami wani hade da fiye da biyu cututtuka. A jariri na Fabry cuta (a hoto na shafa chromosome aka nuna a kasa), kusan ba ya faruwa, don haka da ganewar asali za a iya wuya.

Ganewar asali da cutar a maza

Wadannan abubuwan da ake gudanar for maza:

• Pedigree analysis, asalinsu itace. Ganin hereditary yanayi na rauni, babban darajar a ganewar asali na wani tarin iyali tarihi. Amma iyali daya da cutar za ta iya zama da shari'ã.
• A binciken a kan da abun ciki na enzyme galactosidase a jini.
• DNA analysis - yana da za'ayi a cikin hali na shubuha sakamakon biochemical bincike. DNA za a iya dauka daga wani nazarin halittu abu.

Fabry cuta: ganewar asali raunuka a mata

Wadannan ayyuka suna da za'ayi ga mace jinsi:

• Pedigree analysis.
• DNA analysis.
• Da abun ciki na enzyme a cikin jini ba da farko nuna alama da cutar, wanda aka sa ta kunnawa da asymmetric X-chromosome. Yana iya zama a cikin al'ada iyaka, ko idan wata mace ne ba rashin lafiya.

prenatal ganewar asali

Binciken da za'ayi da aunawa da matakin na enzyme a fetal kyallen takarda. Wannan shi ne zama dole idan uwar shan wahala daga kwayoyin cuta, ko akwai tuhuma da cewa baby amshe Fabry cuta. Bayyanar cututtuka da cutar ne kusan ba ya nan bayan haihuwa da kuma bayyana kansu daga baya a rayuwa.

m rikitarwa

Idan haƙuri ba a zartar da ganewar asali, da kuma cutar da ba za a iya warke, a mafi yawan lokuta, ci gaba da wadannan matsalolin:

• M na koda gazawar. Man ne kullum rasa furotin a cikin fitsari, watau tasowa proteinuria.
• Canza siffar da kuma zuciya. Lokacin da sauraron gano insufficiency na zuciya bawuloli, spasmodic ƙanƙancewa.
• Hargitsa na jini ya kwarara a cikin kwakwalwa. A haƙuri abubuwan m dizziness, wani tsanani wahala na samun wani bugun jini.

magani

Mutane da ake zargi na da ciwon Fabry cuta da aka aiko zuwa na musamman cibiyoyin, inda akwai kwarewa a lura da lysosomal ajiya cututtuka. A wadannan cibiyoyin tabbatar da kasancewar Pathology da kuma aiwatar dace far.

Up har 2000s, ainihin warkewa manufa aka nufin shawo kan mummunan yanayi tasowa a cikin ci gaban da cutar. A lokacin, a daban-daban m ake amfani da su taimaka kashe ba kawai bayyanar cututtuka cewa sa Fabry cuta. Jiyya kunshi enzyme maye far. Marasa lafiya prescribers na alpha, beta-galactosidase.

Fabry cuta (cututtuka da kuma bincike da aka yarda su tsayar da daidai ganewar asali) shi ne batun nan da nan magani. An za'ayi da allura, da mãsu haƙuri na'am da kowane mako biyu. Wannan hanya za a iya aiwatar da taimakon wani mai renonsa a asibitin ko a gida, idan da mutum yake da kyau jure jiko. Jiyya damar zuwa normalize metabolism, gusar da komawa da cututtuka, da hana ci gaban cuta.

Babban magani amfani ga canzawa an dauke "Replagal." A bayani da aka dakatar a cikin vials na 5 ml. Yana nufin yana da kyau tolerability, a rare lokuta da ya faru na gefen effects: itching, ciwon mara, da zazzaɓi.

Idan cutar da cewa yana sa ciwo mai tsanani, marasa lafiya na iya bugu da žari sanya anticonvulsants, analgesics, ba-steroidal anti-mai kumburi wakili.

Kwararru da yawa imani da cewa daidai ganewar asali da kuma lura da Fabry cuta ne iya canza halitta Hakika na cutar. Tasiri amfani da canzawa magani iya dakatar da ci-gaba.

awon monitoring

A kan bango na Hakika wajibi ne a gudanar da wani gwada yawa tabbatar da dalilin tseramidtrigeksozida. A wani cin nasara magani, ta maida hankali rage-rage. A wasu asibiti karatu, cika nuna alama ne matakin na sphingosine globotriaozil.

Injections ba nada a lokacin daukar ciki da kuma lactation, idan mace ba ba sauran cututtuka da matsayi mai hatsari ga rayuwa.

sakamakon

Fabry cuta - mai tsanani kwayoyin cuta tare da zafi, worsening da ingancin rayuwa da kuma kaiwa ga wani warwarewarsu doka iya aiki. A yawa na marasa lafiya ba sami dace magani, saboda haka da ikon yadda ya kamata aiki, binciken, koka a ji na takaici, gajiya, ciki, da damuwa.

A tsanani daga cututtuka iya worsen kullum a cikin ci gaban da cuta, da kuma tsawon rayuwar mutane, ta shafa shi, da wani talakawan na shekaru 15 da kasa da abin da na al'ada. Amma Fabry cuta - ba wani hukuncin kisa, tare da cutar, bayar maye far, zai iya kai mai cikakken rai.