I-Neuronal ceroid lipofuscinoses (NCL)

I-Neuronal ceroid lipofuscinoses (NCL) isho iqembu lezinkinga ezingavamile zamaseli ezinzwa. I-NCL idluliselwa ngemindeni (ezuzwe njengefa).

Lezi yizinhlobo ezintathu eziyinhloko ze-NCL:

• Umuntu omdala (isifo se-Kufs noma seParry)
• Ingane (Isifo se-Batten)
• Usana oluncane (Isifo sikaJansky-Bielschowsky)

I-NCL ifaka ukwakheka kwento engajwayelekile ebizwa nge-lipofuscin ebuchosheni. I-NCL kucatshangwa ukuthi idalwa yizinkinga ezinekhono lobuchopho lokususa nokusebenzisa kabusha amaprotheni.

I-Lipofuscinoses izuzwe njengezimfanelo eziguquguqukayo ze-autosomal. Lokhu kusho ukuthi umzali ngamunye udlulisa ikhophi engasebenzi yesakhi ukuze ingane ithuthukise lesi simo.

Inhlokwana eyodwa kuphela yabantu abadala ye-NCL ezuzwe njengefa lokuthambekela kwe-autosomal.

Izimpawu ze-NCL zifaka:

• Kukhuphuke ngokungavamile ithoni yemisipha noma i-spasm
• Izinkinga zobumpumputhe noma zokubona
• Ukuwohloka komqondo
• Ukuntuleka kokuhlangana kwemisipha
• Ukukhubazeka kwengqondo
• Isifo sokuhamba
• Ukulahleka kwenkulumo
  
• Ukuquleka
• Ukuhamba okungazinzile

Lesi sifo singabonakala lapho kuzalwa, kepha kuvame ukutholakala kamuva kakhulu ebuntwaneni.

Izivivinyo zifaka:

• I-Autofluorescence (inqubo elula)
• I-EEG (ilinganisa umsebenzi kagesi ebuchosheni)
• I-Electron microscopy ye-biopsy yesikhumba
• I-Electroretinogram (ukuhlolwa kwamehlo)
• Ukuhlolwa kofuzo
• Izikrini ze-MRI noma ze-CT zobuchopho
• I-biopsy yezicubu

Alikho ikhambi lezinkinga ze-NCL. Ukwelashwa kuya ngohlobo lwe-NCL nobukhulu bezimpawu. Umhlinzeki wakho wokunakekelwa kwezempilo angahle anikeze ukuphumula kwemisipha ukulawula ukucasulwa nokuphazamiseka kokulala. Imithi ingabuye inqunyelwe ukulawula ukuqubuka nokukhathazeka. Umuntu one-NCL angadinga usizo nokunakekelwa impilo yonke.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-NCL:

• Isikhungo Sokwaziswa Sezifo Zofuzo Nezingajwayelekile - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• I-Batten Disease Support and Research Association - bdsra.org

Lapho umuntu eba mncane lapho lesi sifo sivela, iba sengozini enkulu yokukhubazeka nokufa ngaphambi kwesikhathi. Labo abahlakulela lesi sifo kusenesikhathi bangaba nezinkinga zombono ezithuthukela ekungaboni kanye nezinkinga zokusebenza kwengqondo okuya ngokuya kuba kubi. Uma lesi sifo siqala ngonyaka wokuqala wokuphila, kungenzeka ukuthi umuntu aneminyaka engu-10 afe.

Uma lesi sifo sivela ekubeni mdala, izimpawu zizoba mncane, kungabi nokulahleka kombono kanye nesikhathi esivamile sokuphila.

Lezi zinkinga zingenzeka:

• Ukukhubazeka kombono noma ukungaboni (ngezinhlobo zokuqala zesifo)
• Ukukhubazeka kwengqondo, kusuka ekubambezelekeni okukhulu kokukhula ekuzalweni kuya kokuwohloka komqondo kamuva empilweni
• Imisipha eqinile (ngenxa yezinkinga ezinzima ngezinzwa ezilawula ithoni yemisipha)

Umuntu angancika ngokuphelele kwabanye ukuze abasize ngemisebenzi yansuku zonke.

Shayela umhlinzeki wakho uma ingane yakho ikhombisa izimpawu zokungaboni noma ukukhubazeka kwengqondo.

Ukwelulekwa ngofuzo kuyanconywa uma umndeni wakho unomlando owaziwayo we-NCL. Ukuhlolwa ngaphambi kokubeletha, noma ukuhlolwa okubizwa ngokuthi yi-preimplantation genetic diagnostic (PGD), kungatholakala, kuya ngohlobo oluthile lwesifo. Ku-PGD, umbungu uhlolwe ukungahambi kahle ngaphambi kokuba ufakwe esibelethweni sowesifazane.

Lipofuscinoses; Isifo se-batten; UJansky-Bielschowsky; Isifo se-Kufs; Spielmeyer-Vogt; Isifo seHaltia-Santavuori; Isifo seHagberg-Santavuori

U-Elitt CM, uVolpe JJ. Ukuphazamiseka okhulayo kwengane esanda kuzalwa. Ku: Volpe JJ, Inder TE, Darras BT, et al, ama-eds. IVolpe's Neurology Yentsana. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2018: isahluko 29.

IGlykys J, iSims KB. Izinkinga ze-neuronal ceroid lipofuscinosis. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology: Izimiso kanye Nokuzijwayeza. Umhlaka 6. Elsevier; 2017: isahluko 48.

IGrabowski GA, iBurrow AT, iLeslie ND, iPrada CE. Izifo zokugcina i-Lysosomal. Ku: Orkin SH, Fisher DE, Ginsburg D, Bheka AT, Lux SE, Nathan DG, eds. I-Hematology ne-Oncology kaNathan no-Oski ye-Infancy ne-Childhood. Umhlaka 8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 25.