Tsarin leukodystrophy

Metachromatic leukodystrophy (MLD) cuta ce ta kwayar halitta wacce ke shafar jijiyoyi, tsokoki, sauran gabobin, da halayya. Sannu a hankali yakan zama mafi muni a kan lokaci.

MLD yawanci ana haifar da shi ta rashin wani muhimmin enzyme da ake kira arylsulfatase A (ARSA). Saboda wannan enzyme ya bace, sunadarai da ake kira sulfatides suna tashi a jiki kuma suna lalata tsarin jijiyoyi, koda, gallbladder, da sauran gabobin. Musamman, sunadarai sun lalata kwasfa masu kariya waɗanda ke kewaye da ƙwayoyin jijiyoyi.

Ana kamuwa da cutar ne ta hanyar dangi (wadanda aka gada). Dole ne ku sami kwafin kwayar cutar da ta lalace daga iyayenku don cutar. Iyaye na iya kowannensu yana da nakasar haihuwa, amma ba shi da MLD. Mutumin da ke da kwayar halitta mai larura guda ɗaya ana kiransa "mai ɗauka."

Yaran da suka gaji ɗayan nakasa guda ɗaya daga mahaifa ɗaya za su zama masu ɗauka, amma yawanci ba za su haɓaka MLD ba. Lokacin da masu ɗauka biyu ke da ɗa, akwai damar 1 cikin 4 cewa yaron zai sami duka ƙwayoyin halitta kuma ya sami MLD.

Akwai nau'ikan MLD guda uku. Siffofin suna dogara ne akan lokacin da alamun suka fara:

• Kwayar cutar MLD mai jinkiri yawanci ana farawa daga shekaru 1 zuwa 2.
• Matasan MLD bayyanar cututtuka yawanci suna farawa tsakanin shekaru 4 zuwa 12.
• Adult (kuma ƙarshen matakan MLD) alamun bayyanar na iya faruwa tsakanin shekaru 14 da girma (sama da shekaru 16), amma na iya farawa a ƙarshen 40s ko 50s.

Kwayar cutar MLD na iya haɗawa da ɗayan masu zuwa:

• Yawan baƙuwar ɗaga ko rage sautin tsoka, ko motsin motsa jiki mara kyau, kowane ɗayansu na iya haifar da matsaloli na tafiya ko faduwa akai-akai
• Matsalolin ɗabi'a, canje-canje na ɗabi'a, bacin rai
• Raguwar aikin hankali
• Matsalar haɗiyewa
• Rashin iya yin ayyuka na yau da kullun
• Rashin nutsuwa
• Rashin aikin makaranta
• Kamawa
• Matsalar magana, slurring

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki, yana mai da hankali kan alamomin tsarin juyayi.

Gwajin da za a iya yi sun hada da:

• Jini ko al'adun fata don neman ƙananan arylsulfatase Aiki
• Gwajin jini don neman ƙananan arylsulfatase Matakan enzyme
• Gwajin DNA don kwayar cutar ARSA
• MRI na kwakwalwa
• Gwajin jijiya
• Nazarin sigina na jiji
• Fitsari

Babu magani ga MLD. Kulawa yana mai da hankali kan kula da alamomin da kiyaye ingancin rayuwar mutum tare da magungunan jiki da na aiki.

Ana iya yin la'akari da dashen ƙashin kashin ƙashi don MLD jariri.

Bincike yana nazarin hanyoyi don maye gurbin enzyme da ya ɓace (arylsulfatase A).

Waɗannan ƙungiyoyin na iya samar da ƙarin bayani game da MLD:

• Nationalungiyar forasa don Rare Rashin Lafiya --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• Leungiyar United Leukodystrophy - www.ulf.org

MLD cuta ce mai tsanani wacce ke ƙara muni a tsawon lokaci. A ƙarshe, mutane sun rasa dukkan tsoka da aikin tunani. Tsawancin rayuwa ya bambanta, ya danganta da shekarun da yanayin ya fara, amma hanyar cutar yawanci takan yi shekaru 3 zuwa 20 ko sama da haka.

Ana sa ran mutanen da ke da wannan cuta su sami gajarta fiye da yadda suke rayuwa. A farkon shekarun da ake ganowa, da sauri cutar ke ci gaba.

Ana ba da shawarar ba da shawara kan kwayar halitta idan kana da tarihin iyali na wannan matsalar.

MLD; Arylsulfatase A rashi; Leukodystrophy - metachromatic; Rashin ARSA

• Tsarin juyayi na tsakiya da tsarin juyayi na gefe

Kwon JM. Cutar cututtukan Neurodegenerative na yara. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 617.

Turnpenny PD, Ellard S, Cleaver R. Kuskuren da aka haifa na metabolism. A cikin: Turnpenny PD, Ellard S, Cleaver R, eds. Abubuwan Emery na Kwayoyin Halitta da Tsarin Halitta. 16th ed. Philadelphia, PA: Elsevier; 2022: babi na 18.