Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL) inoreva kune boka rezvinhu zvisingawanzoitika zvemasero etsinga. NCL inopfuudzwa kuburikidza nemhuri (nhaka).

Aya ndiwo matatu makuru marudzi eNCL:

• Mukuru (Kufs kana Parry chirwere)
• Juvenile (Batten chirwere)
• Kunonoka mucheche (Jansky-Bielschowsky chirwere)

NCL inosanganisira kuvakwa kwechinhu chisina kujairika chinonzi lipofuscin muuropi. NCL inofungidzirwa kuti inokonzerwa nezvinetso nehuropi kugona kubvisa nekudzokorora mapuroteni.

Lipofuscinoses inogara nhaka seyakazvimirira maitiro akawandisa. Izvi zvinoreva kuti mubereki wega wega anopfuudza kopi isiri yegen'a kuti mwana akure mamiriro.

Chikamu chega chega chevakuru cheNCL chinogarwa nhaka seyakanyanya hunhu hunhu.

Zviratidzo zveNCL zvinosanganisira:

• Kuwedzera zvisina kujairika mhasuru toni kana spasm
• Kupofumadza kana matambudziko ekuona
• Dementia
• Kusava nekubatana kwetsandanyama
• Urema hwekuziva
• Movement kusagadzikana
• Kurasikirwa kwekutaura
  
• Kufenda
• Kufamba usina kugadzikana

Dambudziko racho rinogona kuonekwa pakuzvarwa, asi rinowanzoongororwa kwakawanda mushure mehucheche.

Miedzo inosanganisira:

• Autofluorescence (yakajeka nzira)
• EEG (zviyero zvemagetsi muuropi)
• Electron microscopy yeganda biopsy
• Electroretinogram (bvunzo yeziso)
• Kuongorora genetic
• MRI kana CT inoongorora yeuropi
• Tissue biopsy

Iko hakuna kurapwa kweNCL kusagadzikana. Kurapa kunoenderana nerudzi rweNCL uye kukura kwezviratidzo. Mutapi wako wezvehutano anogona kupa mishonga yekuzorodza kudzora kusagadzikana uye kukanganiswa kwekurara. Mishonga inogona zvakare kupihwa kudzora kubatwa uye kushushikana. Munhu ane NCL angangoda rubatsiro kwese kwese nekutarisirwa.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezveNCL:

• Genetic uye Rare Zvirwere Ruzivo Ruzivo - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Batten Chirwere Kutsigira uye Yekutsvagisa Sangano - bdsra.org

Mudiki munhu wacho kana chirwere ichi chikaonekwa, ndipo paunowedzera njodzi yekuremara uye kufa kwekutanga. Avo vanokudziridza chirwere pakutanga vanogona kuva nezvinetso zvekuona zvinofambira mberi kuva bofu uye matambudziko nehutano hwepfungwa hunowedzera. Kana chirwere ichi chikatanga mugore rekutanga rehupenyu, kufa nezera regumi kungangoitika.

Kana chirwere ichi chikaitika mukukura, zviratidzo zvichave zvakapfava, pasina kurasikirwa kwekuona uye neyakajairika tarisiro yeupenyu.

Aya matambudziko anogona kuitika:

• Kuona kushomeka kana kupofomara (nemafomu ekutanga echirwere)
• Kukanganisika kwepfungwa, kubva pakunonoka kukura kwekusununguka pakuzvarwa kusvika ku dementia mumashure mehupenyu
• Rigid mhasuru (nekuda kwematambudziko akakomba nemitsipa inodzora mhasuru toni)

Munhu wacho anogona kuzovimba zvachose nevamwe kuti abatsirwe nezviitwa zvezuva nezuva.

Fonera waunopa kana mwana wako achiratidza zviratidzo zveupofu kana hurema hwepfungwa.

Genetic counselling inokurudzirwa kana yako mhuri iine inozivikanwa nhoroondo yeNCL. Bvunzo dzepamberi pekuberekwa, kana bvunzo inonzi preimplantation genetic diagnostic (PGD), inogona kuwanikwa, zvichienderana nerudzi rwechirwere. MuPGD, "embryo" inoongororwa kusagadzikana isati yaiswa mudumbu remukadzi.

Lipofuscinoses; Batten chirwere; Jansky-Bielschowsky; Kufs chirwere; Spielmeyer-Vogt; Haltia-Santavuori chirwere; Chirwere cheHagberg-Santavuori

Elitt CM, Volpe JJ. Degenerative kusagadzikana kweanenge achangozvarwa. Mune: Volpe JJ, Inder TE, Darras BT, et al, eds. Volpe's Neurology yeMucheche. 6th ed. Philadelphia, PA: Elsevier; 2018: chitsiko 29.

Glykys J, Sims KB. Iyo neuronal ceroid lipofuscinosis kusagadzikana. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Misimboti uye Maitiro. 6th ed. Elsevier; 2017: chitsiko 48.

Grabowski GA, Burrow AT, Leslie ND, Prada CE. Lysosomal kuchengetedza zvirwere. Mune: Orkin SH, Fisher DE, Ginsburg D, Tarisa AT, Lux SE, Nathan DG, eds. Natani naOski Hematology uye Oncology yehucheche nehucheche. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: chitsiko 25.