I-Ataxia - telangiectasia

I-Ataxia-telangiectasia isifo esingajwayelekile sobuntwana. Kuthinta ubuchopho nezinye izitho zomzimba.

I-Ataxia isho ukunyakaza okungahambisani, njengokuhamba ngezinyawo. I-Telangiectasias yimithambo yegazi ekhulisiwe (ama-capillaries) ngaphansi kwesikhumba. I-Telangiectasias ibonakala njengemithambo emincane, ebomvu, efana nezicabucabu.

I-Ataxia-telangiectasia izuzwe njengefa. Lokhu kusho ukuthi kudluliselwa emindenini. Kuyisici se-autosomal recessive. Bobabili abazali kumele banikeze ikhophi yofuzo olungasebenzi ukuze ingane ibe nezimpawu zesifo.

Lesi sifo sibangelwa ukuguquka kwesimo se- I-ATM isakhi sofuzo. Lesi sakhi sinikeza iziyalezo zokwenza iprotheni esiza ukulawula izinga amangqamuzana akhula futhi ahlukane ngalo. Amaphutha akulesi sakhi angaholela ekufeni kweseli okungavamile emzimbeni wonke, kufaka phakathi nengxenye yobuchopho esiza ukuxhumanisa ukunyakaza.

Abafana namantombazane bathinteka ngokulinganayo.

Izimpawu zifaka:

• Ukwehla kokuhlanganiswa kokuhamba (ataxia) ebusheni okungafaka i-ataxic gait (i-cerebellar ataxia), i-jerky gait, ukungazinzi
• Ukwehla kokukhula kwengqondo, kwehlisa noma kuyeke ngemuva kweminyaka yobudala eyi-10 kuya kwengu-12
• Ukuhamba kancane
• Ukuqhamuka kombala ezindaweni zesikhumba ezivezwe yilanga
• Ukuqhamuka kwesikhumba (izindawo ezinemibala yekhofi nobisi)
• Kukhuliswe imithambo yegazi esikhunjeni samakhala, izindlebe, nangaphakathi kwendololwane namadolo
• Kukhuliswe imithambo yegazi kwabamhlophe bamehlo
• Ukunyakaza kwamehlo kukaJerky noma okungavamile (nystagmus) sekwedlule isikhathi kulesi sifo
• Ukumpunga ngaphambi kwesikhathi kwezinwele
• Ukuquleka
• Ukuzwela emisebeni, kufaka phakathi ama-x-ray
• Izifo ezinamandla zokuphefumula eziqhubeka zibuya (eziphindayo)

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba. Ukuhlolwa kungakhombisa izimpawu zokulandelayo:

• Amathani, ama-lymph node, nobende ngaphansi kosayizi ojwayelekile
• Ukwehla kokungabi bikho kwemicabango yethenda ejulile
• Ukubambezeleka noma ukungakhuli ngokomzimba nangokwezocansi
• Ukwehluleka kokukhula
• Ubuso obufana nobuso
• Izinguquko eziningi zombala wesikhumba nokuthungwa

Ukuhlolwa okungenzeka kufaka:

• I-Alpha fetoprotein
• Isikrini se-B ne-T
• I-antigen yeCarcinoembryonic
• Ukuhlolwa kofuzo ukubheka ukuguquka kwezakhi zofuzo ku-ATM
• Ukuhlolwa kokubekezelelana kwe-glucose
• Amazinga weSerum immunoglobulin (IgE, IgA)
• Ama-X ray ukubheka ubukhulu bendlala ye-thymus

Akukho ukwelashwa okuqondile kwe-ataxia-telangiectasia. Ukwelashwa kubhekiswe kwizimpawu ezithile.

Iphrojekthi Yezingane ye-Ataxia Telangiectasia: www.atcp.org

INational Ataxia Foundation (NAF): ataxia.org

Ukufa ngaphambi kwesikhathi kuvamile, kepha isikhathi sokuphila asifani.

Ngenxa yokuthi abantu abanalesi simo bazwela kakhulu emisebeni, akufanele nanini banikezwe ukwelashwa ngemisebe, futhi akukho x-ray engenasidingo okufanele yenziwe.

Izinkinga zingafaka:

• Umdlavuza, njenge-lymphoma
• Isifo sikashukela
• UKyphosis
• Ukuphazamiseka kokuhamba okuholela ekusetshenzisweni kwesihlalo sabakhubazekile
• I-Scoliosis
• Izifo ezinamandla, eziphindaphindiwe zamaphaphu

Shayela umhlinzeki wakho uma ingane yakho iqala izimpawu zalesi sifo.

Imibhangqwana enomlando womndeni walesi simo ocabanga ukukhulelwa ingabheka ukwelulekwa ngezofuzo.

Abazali bengane enalesi sifo bangaba nengozi encane yokwanda komdlavuza. Kufanele babe nokwelulekwa ngezakhi zofuzo kanye nokwanda kokuhlolwa umdlavuza.

ILouis-Bar syndrome

• Amasosha omzimba
• I-Telangiectasia

UGatti R, uPerlman S. Ataxia-telangiectasia. Ukubuyekezwa kweGeneReviews. I-PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Kubuyekezwe u-Okthoba 27, 2016. Kufinyelelwe ngoJulayi 30, 2019.

UMartin KL. Ukuphazamiseka kwemithambo yegazi.Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 669.

UVarma R, uWilliams SD. Neurology. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 16.