Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL) yana nufin rukuni na ƙananan cuta na ƙwayoyin jijiyoyin. NCL ya wuce ta cikin dangi (wanda aka gada).

Waɗannan sune manyan nau'ikan NCL guda uku:

• Manya (Kufs ko cutar Parry)
• Matasa (Batten cuta)
• Late jariran (Jansky-Bielschowsky cuta)

NCL ya haɗa da haɓaka wani abu mara kyau wanda ake kira lipofuscin a cikin kwakwalwa. Ana tunanin NCL zai iya haifar da matsaloli tare da ikon ƙwaƙwalwar don cirewa da sake amfani da sunadarai.

Lipofuscinoses ana gadonsa azaman halaye masu mahimmancin jiki. Wannan yana nufin kowane mahaifa ya ba da kwafin kwayar halitta wanda ba ya aiki don yaro ya ci gaba da yanayin.

Adultaya daga cikin ƙananan ƙwararrun NCL ne kawai aka gada azaman ƙarancin ikon mallaka.

Kwayar cutar NCL sun hada da:

• Baƙon abu ya ƙara sautin tsoka ko spasm
• Makafi ko matsalolin gani
• Rashin hankali
• Rashin daidaituwa tsakanin tsoka
• Rashin hankali
• Rikicin motsi
• Rashin magana
  
• Kamawa
• Tafiya mara ƙarfi

Ana iya ganin rikicewar lokacin haihuwa, amma yawanci ana gano shi daga baya lokacin yarinta.

Gwajin sun hada da:

• Autofluorescence (fasaha mai haske)
• EEG (ƙaddara aikin lantarki a cikin kwakwalwa)
• Micronkoron na lantarki na biopsy
• Electroretinogram (gwajin ido)
• Gwajin kwayoyin halitta
• MRI ko CT scans na kwakwalwa
• Kwayar halitta

Babu magani ga cututtukan NCL. Jiyya ya dogara da nau'in NCL da yawan alamun bayyanar. Mai ba da sabis na kiwon lafiya na iya ba da umarnin shakatawa na tsoka don kula da haushi da rikicewar bacci. Hakanan za'a iya wajabta magunguna don sarrafa kamuwa da damuwa. Mutumin da ke da NCL na iya buƙatar taimako na tsawon rai da kulawa.

Wadannan albarkatu na iya ba da ƙarin bayani game da NCL:

• Cibiyar Bayar da Bayanan Cututtuka na Halitta da Rare - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Supportungiyar Batten Taimakawa da Researchungiyar Bincike - bdsra.org

Aramin mutum shine lokacin da cutar ta bayyana, mafi haɗarin nakasa da mutuwa da wuri. Wadanda suka kamu da cutar da wuri na iya samun matsalolin hangen nesa da ke ci gaba zuwa makanta da matsaloli tare da aikin tunani wadanda suke ta munana. Idan cutar ta fara a cikin shekarar farko ta rayuwa, akwai yiwuwar mutuwa ta shekara 10 da haihuwa.

Idan cutar ta faru a cikin girma, alamomin za su zama masu sauƙi, ba tare da raunin gani da ƙarancin rayuwa ba.

Wadannan rikitarwa na iya faruwa:

• Rashin hangen nesa ko makanta (tare da yanayin farko-farkon cutar)
• Rashin tabin hankali, wanda ya faro daga jinkiri mai girma na haihuwa zuwa hauka daga baya a rayuwa
• Musclesananan tsokoki (saboda matsaloli masu tsanani tare da jijiyoyin da ke sarrafa sautin tsoka)

Mutumin na iya dogaro ga wasu gaba ɗaya don taimako a ayyukan yau da kullun.

Kirawo mai ba ka sabis idan ɗanka ya nuna alamun makaho ko nakasa ilimi.

Ana ba da shawarar ba da shawara kan kwayar halitta idan danginku suna da sanannen tarihin NCL. Gwajin haihuwa, ko gwajin da ake kira preimplantation genetic diagnostic (PGD), na iya kasancewa, ya danganta da takamaiman nau'in cutar. A cikin PGD, ana gwada amfrayo don rashin dacewa kafin a dasa shi a cikin mahaifar mace.

Lipofuscinoses; Batten cuta; Jansky-Bielschowsky; Cutar Kufs; Spielmeyer-Vogt; Haltia-Santavuori cuta; Hagberg-Santavuori cuta

Elitt CM, Volpe JJ. Rashin nakasa na jariri. A cikin: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology na Jariri. Na 6 ed. Philadelphia, PA: Elsevier; 2018: babi na 29.

Glykys J, Sims KB. Cutar neuronal ceroid lipofuscinosis cuta. A cikin: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Neurology na Yara: Ka'idoji da Ayyuka. Na 6 ed. Elsevier; 2017: babi na 48.

Grabowski GA, Burrow AT, 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.