Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL) amatanthauza gulu lamavuto osowa amitsempha yamitsempha. NCL imaperekedwa kudzera m'mabanja (obadwa nawo).

Izi ndi mitundu itatu yayikulu ya NCL:

• Wamkulu (Kufs kapena matenda a Parry)
• Achinyamata (Matenda a Batten)
• Khanda mochedwa (Matenda a Jansky-Bielschowsky)

NCL imakhudzana ndi kuchuluka kwa zinthu zosazolowereka zotchedwa lipofuscin muubongo. NCL imaganiziridwa kuti imayambitsidwa ndi zovuta zomwe ubongo umatha kuchotsa ndikonzanso mapuloteni.

Lipofuscinoses amatengera monga machitidwe owonjezera a autosomal. Izi zikutanthauza kuti kholo lililonse limapereka mtundu wosagwira ntchito kuti mwanayo akule.

Chigawo chimodzi chokha chachikulire cha NCL chimatengera chikhalidwe chachikulu cha autosomal.

Zizindikiro za NCL ndizo:

• Kuchulukitsa modabwitsa kwamatenda kapena kuphipha
• Khungu kapena mavuto amaso
• Kusokonezeka maganizo
• Kupanda kulumikizana kwa minofu
• Kulemala kwamaluso
• Matenda oyenda
• Kutaya mawu
  
• Kugwidwa
• Kuyenda mosakhazikika

Vutoli limatha kuwonedwa pakubadwa, koma nthawi zambiri limapezeka pambuyo pake ali mwana.

Mayeso ndi awa:

• Autofluorescence (njira yowala)
• EEG (imayesa zochitika zamagetsi muubongo)
• Ma microscopy a khungu la khungu
• Electroretinogram (kuyezetsa diso)
• Kuyesedwa kwachibadwa
• Kujambula kwa MRI kapena CT kwaubongo
• Zolemba zamatenda

Palibe chithandizo chamavuto a NCL. Chithandizo chimadalira mtundu wa NCL komanso kuchuluka kwa zizindikilo zake. Wothandizira zaumoyo wanu akhoza kukupatsani mankhwala opumitsira minofu kuti muchepetse kukwiya komanso kusokonezeka kwa tulo. Mankhwala amathanso kuperekedwa kuti athetse kugwidwa ndi nkhawa. Munthu yemwe ali ndi NCL angafunike thandizo ndi chisamaliro kwa moyo wake wonse.

Zida zotsatirazi zitha kupereka zambiri pa NCL:

• Chidziwitso cha Matenda a Chibadwa ndi Rare - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Bungwe la Batten Support and Research Association - bdsra.org

Munthu wachichepere pomwe matenda amawonekera, amakhala pachiwopsezo chachikulu cha kupunduka komanso kufa msanga. Omwe amakhala ndi matendawa msanga amatha kukhala ndi vuto la masomphenya lomwe limayamba kukhala khungu komanso mavuto amisala omwe amakula. Ngati matendawa ayamba mchaka choyamba cha moyo, amafa pofika zaka 10.

Matendawa akayamba kukhala achikulire, zizindikilo zake zimakhala zochepa, osawona masomphenya komanso chiyembekezo chokhala ndi moyo wathanzi.

Zovuta izi zitha kuchitika:

• Kuwonongeka kwamasomphenya kapena khungu (ndimitundu yoyambilira yamatenda)
• Kuwonongeka kwamaganizidwe, kuyambira pakuchedwa kwakukula kwakubadwa mpaka matenda amisala pambuyo pake
• Minofu yolimba (chifukwa cha mavuto akulu ndi mitsempha yomwe imawongolera kamvekedwe ka minofu)

Munthuyo amatha kudalira anthu ena kuti amuthandize pa zochitika za tsiku ndi tsiku.

Itanani omwe akukuthandizani ngati mwana wanu akuwonetsa zizindikiro zakhungu kapena kulumala.

Upangiri wa chibadwa umalimbikitsidwa ngati banja lanu lili ndi mbiri yodziwika ya NCL. Kuyesedwa kwa amayi asanabadwe, kapena mayeso otchedwa preimplantation genetic diagnostic (PGD), atha kupezeka, kutengera mtundu wa matendawa. Mu PGD, mwana wosabadwa amayesedwa kuti ali ndi zovuta asanayikidwe m'mimba mwa mkazi.

Lipofuscinoses; Matenda a Batten; Jansky-Bielschowsky; Matenda a Kufs; Spielmeyer-Vogt; Matenda a Haltia-Santavuori; Matenda a Hagberg-Santavuori

Elitt CM, Volpe JJ. Matenda osachiritsika a wakhanda. Mu: Volpe JJ, Inder TE, Darras BT, et al, olemba. Volpe's Neurology ya Mwana wakhanda. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2018: mutu 29.

Glykys J, Sims KB. Matenda a neuronal ceroid lipofuscinosis. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology: Mfundo ndi Zochita. Lachisanu ndi chimodzi. Zowonjezera; 2017: chap 48.

Grabowski GA, Burrow AT, Leslie ND, Prada CE. Matenda osungira Lysosomal. Mu: Orkin SH, Fisher DE, Ginsburg D, Yang'anani AT, Lux SE, Nathan DG, eds. Nathan ndi Oski a Hematology ndi Oncology of Infancy and Childhood. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: chap 25.