I-Neuronal ceroid lipofuscinoses (NCL)

I-Neuronal ceroid lipofuscinoses (NCL) ibhekisa kwiqela leziphazamiso ezinqabileyo zeeseli zemithambo-luvo. I-NCL idluliswa kwiintsapho (ezizuzwe njengelifa).

Ezi zezi ntlobo zintathu ziphambili ze-NCL:

• Abantu abadala (Ukufa okanye isifo seParry)
• Ulutsha (isifo seBatten)
• Ukuzalwa kade (Isifo iJansky-Bielschowsky)

I-NCL ibandakanya ukwakhiwa kwezinto ezingaqhelekanga ezibizwa ngokuba yi-lipofuscin kwingqondo. I-NCL icingelwa ukuba ibangelwa ziingxaki zokukwazi kwengqondo ukususa nokuphinda zisebenzise iiproteni.

I-Lipofuscinoses izuzwe njengelifa njengeempawu ezongezelelekileyo ze-autosomal. Oku kuthetha ukuba umzali ngamnye udlulisa ikopi engasebenziyo yemfuza ukuze umntwana akhule.

Inye kuphela i-subtype yabantu abadala eyifumene njengelona phawu lubalaseleyo lwe-autosomal.

Iimpawu ze-NCL zibandakanya:

• Ukunyuka ngokungaqhelekanga kwemisipha okanye ispasm
• Ubumfama okanye iingxaki zombono
• Isifo sengqondo esiyingozi
• Ukungabikho kolungelelwaniso lwezihlunu
• Ukukhubazeka kwengqondo
• Ingxaki yentshukumo
• Ukuphulukana nentetho
  
• Ukuxhuzula
• Ukuhamba okungazinzanga

Ukuphazamiseka kunokubonwa xa kuzalwa, kodwa kuhlala kufunyaniswa kamva kubuntwana.

Uvavanyo lubandakanya:

• I-Autofluorescence (indlela elula)
• I-EEG (amanyathelo omsebenzi wombane kwingqondo)
• I-Electron microscopy ye-biopsy yolusu
• I-Electroretinogram (uvavanyo lwamehlo)
• Uvavanyo lwemfuzo
• I-MRI okanye i-CT scans yengqondo
• I-biopsy yethishu

Akukho lunyango lweengxaki ze-NCL. Unyango luxhomekeke kudidi lwe-NCL kunye nobungakanani beempawu. Umboneleli wakho wezempilo unokumisela ukuphumla kwezihlunu ukulawula ukucaphuka kunye nokuphazamiseka kokulala. Amayeza anokumiselwa ukulawula ukubanjwa kunye noxinzelelo. Umntu one-NCL unokufuna uncedo kunye nokhathalelo lobomi bonke.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-NCL:

• IZiko loLwazi lweZifo zeMvelo kunye noRare
• Inkxaso yezifo zeBatten kunye noMbutho woPhando-bdsra.org

Omncinci umntu xa isifo sibonakala, umngcipheko omkhulu wokukhubazeka kunye nokufa kwangethuba. Abo bakhula kwesi sifo kwangoko banokuba neengxaki zombono eziqhubela phambili kukungaboni kunye neengxaki zokusebenza kwengqondo eziba mandundu. Ukuba esi sifo siqala kunyaka wokuqala wobomi, ukufa nge-10 ubudala kunokwenzeka.

Ukuba esi sifo senzeka ebudaleni, iimpawu ziya kuba nzima, kungabikho kulahleka kombono kunye nexesha eliqhelekileyo lokuphila.

Ezi ngxaki zinokwenzeka:

• Ukungaboni kakuhle okanye ukungaboni (ngeendlela zokuqala zesi sifo)
• Ukuphazamiseka engqondweni, ukusukela kulibaziseko lokukhula okunzima ekuzalweni ukuya kwisifo sengqondo esixhalabisayo kamva ebomini
• Izihlunu eziqinileyo (ngenxa yeengxaki ezinzima zemithambo-luvo ezilawula ithoni yemisipha)

Umntu unokuxhomekeka ngokupheleleyo kwabanye ngoncedo kwimisebenzi yemihla ngemihla.

Tsalela umnikezeli wakho ukuba umntwana wakho ubonakalisa iimpawu zokungaboni okanye ukukhubazeka ngokwasengqondweni.

Ukucebisa ngemfuza kuyacetyiswa ukuba usapho lwakho lunembali eyaziwayo yeNCL. Uvavanyo lwe-prenatal, okanye uvavanyo olubizwa ngokuba yi-preimplantation genetic diagnostic (PGD), lunokufumaneka, kuxhomekeka kuhlobo oluthile lwesifo. Kwi-PGD, umbungu uvavanyelwa ukungaqheleki ngaphambi kokuba ifakwe kwisibeleko sowasetyhini.

Lipofuscinoses; Isifo seBatten; UJansky-Bielschowsky; Isifo se-Kufs; ISpielmeyer-Vogt; Isifo seHaltia-Santavuori; Isifo seHagberg-Santavuori

Elitt CM, Volpe JJ. Ukuphazamiseka okwandayo kwimveku. Ku: Volpe JJ, Inder TE, Darras BT, et al, ii-eds. I-Volpe's Neurology yoSana olusandul 'ukuzalwa. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2018: isahluko 29.

UGlykys J, uSims KB. Iingxaki ze-neuronal ceroid lipofuscinosis. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology: Imigaqo kunye nokuziqhelanisa. Umhla wesi-6. Elsevier; Ngo-2017: isahluko 48.

IGrabowski GA, iBurrow AT, iLeslie ND, iPrada CE. Izifo zokugcina i-Lysosomal. Ku: Orkin SH, Fisher DE, Ginsburg D, Jonga AT, Lux SE, Nathan DG, eds. UNathan kunye no-Oski's Hematology kunye ne-Oncology yoBusana kunye noBuntwana. Ngomhla we-8. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 25.