Ataxia - telangiectasia

I-Ataxia-telangiectasia sisifo esinqabileyo sobuntwana. Ichaphazela ingqondo kunye namanye amalungu omzimba.

I-Ataxia ibhekisa kwiintshukumo ezingalungelelaniswanga, ezinje ngokuhamba. Iitelangiectasias ziyandisiwe imithambo yegazi (ii-capillaries) ngaphantsi nje kwesikhumba. I-Telangiectasias ibonakala njengezincinci, ezibomvu, imithambo efana nesigcawu.

I-Ataxia-telangiectasia izuzwe njengelifa. Oku kuthetha ukuba kudluliswa kwiintsapho. Yimpawu ye-autosomal recessive. Bobabini abazali kufuneka banikeze ikopi yohlobo olungasebenziyo ukuze umntwana abe neempawu zokuphazamiseka.

Esi sifo siphumela kutshintsho olwenzeka kwi- ATM Uhlobo. Le gene ibonelela ngemiyalelo yokwenza iprotein enceda ukulawula umyinge wokukhula kweeseli kunye nokwahlukana. Ukusilela kolu luhlu kunokukhokelela ekufeni kweseli okungaqhelekanga emzimbeni, kubandakanya nenxalenye yengqondo encedisa ukulungelelanisa intshukumo.

Amakhwenkwe namantombazana achaphazeleka ngokufanayo.

Iimpawu zibandakanya:

• Ukudityaniswa kokulungelelaniswa kokuhamba (ataxia) ebuntwaneni emva kwexesha okunokubandakanya i-ataxic gait (cerebellar ataxia), i-jerky gait, ukungazinzi
• Ukwehla kokuphuhla kwengqondo, ukucotha okanye ukuyeka emva kweminyaka eli-10 ukuya kweli-12
• Ukulibaziseka ukuhamba
• Ukuqaqanjelwa kwemimandla yesikhumba evezwe kukukhanya kwelanga
• Ukuchithwa kolusu (amabala anemibala yekofu-enobisi)
• Imithambo yegazi eyandisiweyo kulusu lwempumlo, iindlebe, nangaphakathi kwengqiniba kunye nedolo
• Imithambo yegazi eyandisiweyo kwabamhlophe ngamehlo
• Ukuhamba kwamehlo kukaJerky okanye okungaqhelekanga (nystagmus) emva kwexesha kwesi sifo
• Ngaphambi kokuba ube neenwele ezingwevu
• Ukuxhuzula
• Ubuntununtunu kwimitha, kubandakanya i-ray-ray
• Izifo ezomeleleyo zokuphefumla ezihlala zibuya (eziphindaphindayo)

Umboneleli wezempilo uya kwenza uvavanyo lomzimba. Uviwo lunokubonisa iimpawu zoku kulandelayo:

• Iitoni, i-lymph nodes, kunye ne-spleen ngaphantsi kobukhulu obuqhelekileyo
• Ukuncipha kokungabikho kobunzulu beethenda
• Ukulibaziseka okanye ukungabikho kophuhliso lomzimba kunye nolwabelana ngesondo
• Ukungaphumeleli ukukhula
• Ubuso obufane nobuso
• Ukutshintsha imibala emininzi kolusu kunye nokutshintsha kwemvakalo

Uvavanyo olunokwenzeka lubandakanya:

• I-alpha fetoprotein
• B kunye no-T kwesikrini
• Carcinoembryonic antigen
• Uvavanyo lwe-Genetic ukukhangela utshintsho kwi-ATM yegeni
• Uvavanyo lokunyamezelwa kweglucose
• Amanqanaba eSerum immunoglobulin (IgE, IgA)
• I-X-ray ukujonga ubungakanani be-thymus gland

Akukho lonyango oluthile lwe-ataxia-telangiectasia. Unyango lujolise kwiimpawu ezithile.

Iprojekthi yabantwana yeAtaxia Telangiectasia: www.atcp.org

Isiseko seSizwe seAtaxia (NAF): ataxia.org

Ukufa kwangoko kuqhelekile, kodwa ixesha lokuphila liyahluka.

Kuba abantu abanale meko banovakalelo kakhulu kwimitha, akufuneki banikwe unyango lwemitha, kwaye akukho x-reyi ingafunekiyo kufuneka yenziwe.

Iingxaki zinokubandakanya:

• Umhlaza, njenge-lymphoma
• Seswekile
• Kyphosis
• Inkqubela phambili yentshukumo ekhokelela ekusebenziseni isitulo esinamavili
• Scoliosis
• Izifo ezomeleleyo, eziphindaphindayo zemiphunga

Fowunela umboneleli wakho ukuba umntwana wakho uvela kwiimpawu zesi sifo.

Amaqabane anembali yosapho yale meko athathela ingqalelo ukukhulelwa angajonga ingcebiso ngemfuzo.

Abazali bomntwana onale ngxaki banokuba nomngcipheko omncinci owonyukayo womhlaza. Kuya kufuneka babe neengcebiso ngemfuzo kunye nokonyuka ukuhlolwa komhlaza.

Isifo seLouis-Bar

• Iintsholongwane
• I-Telangiectasia

UGatti R, uPerlman S.Ataxia-telangiectasia. Uphononongo lweGene. I-PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Ukuhlaziywa ngo-Okthobha 27, 2016. Kufikeleleke ngoJulayi 30, 2019.

UMartin KL. Ukuphazamiseka kwemithambo.Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 669.

UVarma R, uWill SD. Neurology. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 16.