Cutar Krabbe

Cutar Krabbe cuta ce mai saurin yaduwa ta tsarin juyayi. Nau'in cututtukan kwakwalwa ne da ake kira leukodystrophy.

Wani lahani a cikin GALC kwayar halitta tana haifar da cutar Krabbe. Mutanen da ke da wannan lahani ba sa samun isasshen abu (enzyme) da ake kira galactocerebroside beta-galactosidase (galactosylceramidase).

Jiki yana buƙatar wannan enzyme don yin myelin. Myelin yana kewaye da kare ƙwayoyin jijiya. Ba tare da wannan enzyme ba, myelin zai lalace, ƙwayoyin kwakwalwa ke mutuwa, kuma jijiyoyi a cikin kwakwalwa da sauran sassan jiki basa aiki yadda yakamata.

Cutar Krabbe na iya bunkasa a cikin shekaru daban-daban:

• Farkon-farkon cutar Krabbe ta bayyana a farkon watanni na rayuwa. Yawancin yara masu wannan nau'in cutar suna mutuwa kafin su kai shekaru 2.
• Late-farkon Krabbe cuta ta fara ne tun ƙarshen ƙuruciya ko ƙuruciya.

Cutar Krabbe ta gado ce, wacce ke nufin ana yada ta ta hanyar dangi. Idan iyaye biyu suna dauke da kwafin kwayar halittar da ba ta aiki ba dangane da wannan yanayin, kowane ɗayansu na da damar 25% (1 cikin 4) na yiwuwar kamuwa da cutar. Rashin lafiya ne na rashin lafiyar jiki.

Wannan yanayin yana da wuya sosai. An fi samun hakan tsakanin mutanen asalin Scandinavia.

Kwayar cutar Krabbe da wuri shine:

• Canza sautin tsoka daga floppy zuwa m
• Rashin sauraro wanda ke haifar da rashin ji
• Rashin cin nasara
• Matsalolin ciyarwa
• Ritaci da hankali ga sauti mai ƙarfi
• Cutar mai tsanani (na iya farawa tun da wuri)
• Zazzabin da ba'a bayyana ba
• Rashin gani wanda ke haifar da makanta
• Amai

Tare da ƙarshen cutar Krabbe, matsalolin hangen nesa na iya bayyana da farko, sannan matsalolin tafiya da tsokoki masu tsauri. Kwayar cutar ta bambanta daga mutum zuwa mutum. Sauran bayyanar cututtuka na iya faruwa.

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki kuma ya yi tambaya game da alamun.

Gwajin da za a iya yi sun hada da:

• Gwajin jini don neman matakan galactosylceramidase a cikin fararen ƙwayoyin jini
• Cikakken furotin CSF - yana gwada yawan furotin a cikin ruwa mai ruɓaɓɓu (CSF)
• Gwajin kwayar halitta don lalacewar kwayar GALC
• MRI na kai
• Gudun tafiyar da jijiyoyin jiki

Babu takamaiman magani don cutar Krabbe.

Wasu mutane anyi musu dashen kashi a farkon matakan cutar, amma wannan magani yana da haɗari.

Waɗannan albarkatun na iya ba da ƙarin bayani game da cutar Krabbe:

• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• NIH Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/krabbe-disease
• Leasar Leukodystrophy Foundation - www.ulf.org

Sakamakon na iya zama mara kyau. A matsakaita, jarirai masu fama da cutar Krabbe da wuri suna mutuwa kafin su kai shekaru 2. Mutanen da suka kamu da cutar a wani lokaci na gaba sun tsira zuwa girma tare da cutar tsarin jijiyoyi.

Wannan cutar tana lalata tsarin juyayi na tsakiya. Yana iya haifar da:

• Makaho
• Kurma
• Matsaloli masu tsanani tare da sautin tsoka

Cutar galibi tana barazanar rai.

Tuntuɓi mai ba da sabis idan ɗanka ya kamu da alamun wannan cuta. Je zuwa asibitin gaggawa ko kiran lambar gaggawa ta gida (kamar 911) idan waɗannan alamun sun faru:

• Kamawa
• Rashin hankali
• Kuskuren aikawa

Ana ba da shawara kan kwayar halitta don mutanen da ke da tarihin iyali na cutar Krabbe waɗanda ke yin la'akari da samun yara.

Za'a iya yin gwajin jini don ganin idan kuna ɗauke da kwayar cutar Krabbe.

Ana iya yin gwajin haihuwa (amniocentesis ko chorionic villus Sampling) don gwada jariri mai tasowa game da wannan yanayin.

Layin leukodystrophy na Globoid; Galactosylcerebrosidase rashi; Galactosylceramidase rashi

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Cututtukan adana Lysosomal. A cikin: Orkin SH, Fisher DE, Ginsburg D, Duba AT, Lux SE, Nathan DG, eds. Nathan da Oski na Hematology da Oncology na jarirai da Yara. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: babi na 25.

Fastocin GM, Wang RY. Cututtukan adana Lysosomal. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Neurology na Yara: Ka'idoji da Ayyuka. Na 6 ed. Philadelphia, PA: Elsevier; 2017: babi na 41.