I-Disorder Disorder Genetically Ihlanganiswe Namanye Amaqembu
Isifo se-Tay-Sachs yisifo esingavamile sofuzo oluvame ukuvinjelwa kubantu abathile bezizwe. Kubonakala ukubhujiswa kwamangqamuzana ezinzwa emzimbeni wesisindo futhi kungabangela ukuphuphutheka, ukuzwa isisindo, nokulahlekelwa kwemisebenzi yengqondo nomzimba.
I-Tay-Sachs iyinkinga ye- autosomal eguquguqukayo , okusho ukuthi yisifo esizuze kubazali bomuntu.
Lesi sifo sihlotshaniswa nezinguquko ezakhiweni ze- HEXA ezinamaphesenti angaphezu kuka-100. Kuye ngokuthi yiziphi izinguquko ezithintekayo, lesi sifo singathatha izinhlobo ezihlukahlukene, okubangela ukugula ngesikhathi sokusana, ubuntwana, noma umuntu omdala.
Ukufa kuvame ukuvela ezinganeni zingakapheli iminyaka embalwa yezimpawu zokuqala, njengoba ukubhujiswa kwamangqamuzana e-nerve kushiya abakwazi ukuhamba noma ngisho nokugwinya. Ezinyathelweni eziphambili, izingane zizokwazi ukutheleleka ekutheleleni. Iningi lifa ngenxa yezinkinga ze- pneumonia noma ezinye izifo zokuphefumula.
Nakuba kungavamile kubantu abaningi, i-Tay-Sachs ibonakala njalo kumaJuda ase-Ashkenazi, eCajuns aseNingizimu Louisiana, amaFrance aseCanada aseSouthern Quebec, nase-Irish America.
Indlela Ebangelwa Ngayo Ukugula
I-gene ye- HEXA inikeza imiyalelo yokwenza uhlobo lwe-enzyme eyaziwa ngokuthi i-hexosaminidase A. Le enzyme inesibopho sokuphula into enamafutha eyaziwa njenge-GM2 ganglioside.
Kubantu abane-Tay-Sachs isifo, i-hexosaminidase A ayisekho imisebenzi njengoba kufanele. Ngaphandle kwamandla okudiliza la mafutha, amazinga anobuthi aqala ukuqoqa amangqamuzana omzimba wengqondo nobuchopho bomgogodla, ekugcineni awabhubhise futhi ahole izimpawu zesifo.
Izifo ze-Tay-Sachs ezingenasifo
Izimpawu nezimpawu zesifo se-Tay-Sachs zihluka uma izimpawu ziqala ukuqala.
Uhlobo oluvame kakhulu luyisifo esincane se-Tay-Sachs, izibonakaliso zokuqala ezizovela phakathi kwezinyanga ezintathu nezinyanga eziyisithupha. Lesi yisikhathi lapho abazali bazoqala ukuqaphela ukuthi ukuthuthukiswa kwengane nokunyakaza kwabo kuye kwahamba kancane.
Ngalesi sigaba, ingane ingase ingakwazi ukujika noma ukuhlala. Uma ingane ikhulile, ingase ibe nobunzima bokukhahlela noma ukuphakamisa ingalo. Zizophinde zibonise ukusabela okwedlulele, okuvusa amadlingozi kumsindo omsindo futhi kungase kubonakale kungenalutho noma i-lethargic. Ukusuka lapho, ukuwohloka kwemisebenzi yengqondo nengokwenyama ngokuvamile kungenasisekelo futhi kujulile.
Izimpawu ngokuvamile zihlanganisa:
- Ukuzizwa
- Ukulahlekelwa umbono nokuphuphuthekisa
- Ukuzwa ukulahlekelwa nokuzithulu
- Ukuxosha nokubunzima ukugwinya (i- dysphagia )
- Ukuqina kobunzima nobukhulu be- muscle
- I-muscle atrophy
- Ukulahlekelwa komsebenzi wengqondo nokuqonda
- Ukukhubazeka
- Ukufa
Ukufa, ngisho nokunakekelwa kokunakekelwa kwezempilo, ngokuvamile kwenzeka ngaphambi kweminyaka engamashumi amane.
Amafomu ajwayelekile ajwayelekile
Ngenkathi i-infantile Tay-Sachs yiyona ndlela eyinhloko yesifo, kunezinhlobo ezingavamile ezibonakala kubantwana nakubantu abadala. Isikhathi sokuqala kwesifo sihlobene kakhulu nokuhlanganiswa kwezakhi zofuzo ezizuzwe kubazali.
Kwamafomu amabili ajwayelekile:
- I-Juvenile Tay-Sachs isifo ngokuvamile sibonisa izimpawu noma kuphi lapho uneminyaka emibili kuya kweyishumi ubudala. Njengomntwana we-Tay-Sachs omncane, ukuqhubekela phambili kwalesi sifo kukhululekile, okuholela ekwenzeni ukukhubazeka kwamakhono okuqonda, ukukhuluma, kanye nokuhlukunyezwa kwemisipha kanye ne-dysphagia kanye ne-spasticity. Ukufa kuvame ukuvela phakathi kweminyaka emihlanu nengu-15.
- Isifo esilandelayo saseTay-Sachs (esaziwa nangokuthi umuntu omdala iTay-Sachs) siyinto engavamile kakhulu futhi ngokuvamile siyakhula kubantu abadala phakathi kuka-30 no-40. Ngokungafani nezinye izinhlobo zalesi sifo, ngokuvamile akabulali futhi uzoyeka ukuqhubeka ngemva kokuba Isikhathi sesikhathi. Phakathi nalesi sikhathi, umuntu angase alahle ukwehluleka kwamakhono engqondo, ukungaqiniseki, izinkinga zenkulumo, i-dysphagia, i-spasticity, ngisho ne-psychosiphrenia-njenge-psychosis. Abantu abanokuphumula ekupheleni kwe-Tay Sachs bangakwazi ukukhubazeka unomphela futhi badinga isihlalo sabakhubazekile esigcwele.
I-Genetics nefa
Njengoba kunoma iyiphi i-autosomal disorder, i-Tay-Sachs ivela lapho abazali ababili abangenalo isifo ngamunye befaka izakhi zofuzo eziyinkimbinkimbi ezinganeni zabo.
Abazali bacatshangwa ngokuthi "abathwali" ngoba ngamunye unekhophi ejwayelekile (evamile) yegijethi kanye nekhophi eyodwa (ethintekayo) ye-gene. Kuyinto kuphela uma umuntu enezifo ezimbili eziphindaphindiwe ezenziwa iTay-Sachs.
Uma bobabili abazali beyizintambo, ingane inamathuba angu-25 okuzuza ifulegi ezimbili eziphindaphindiwe (nokuthola i-Tay-Sachs), ithuba elingamaphesenti angama-50 lokuthola isakhi esisodwa esiphezulu nesinye esisodwa (futhi sibe yithwala), futhi amaphesenti angama-25 amathuba yokuthola izakhi zofuzo ezimbili eziphezulu (futhi azihlali zingathinteki).
Ngenxa yokuthi kunezinguquko ezingaphezu kwezingu-100 zezinguquko ze- HEXA , inhlanganisela ehlukene ephindaphindiwe ingaqeda izincazelo ezihlukahlukene kakhulu. Kwezinye izimo, inhlanganisela izonikeza ekuhambeni kokuqala kanye nokukhula ngokushesha kwezifo futhi, kwezinye izimo, ngokuhamba kwesikhathi kuqhubeke nokukhula kwesifo esisheshayo.
Ngenkathi ososayensi besondelene nokuqonda ukuthi yiziphi izinhlanganisela ezihlobene nokuthi yiziphi izinhlobo zesifo, kusekhona izikhala ezinkulu ekuqondeni kwethu kofuzo lweTay-Sach kuzo zonke izinhlobo zayo.
Ingozi
Njengoba kungavamile njengoTay-Sachs ku-jikelele-okuvela kuzo zonke izizukulwane ezingu-320,000-kunabantu abathile lapho ingozi iphezulu kakhulu.
Ingozi ivinjelwe ikakhulukazi ekuthiwa yi "abasunguli bomphakathi" lapho amaqembu angakwazi ukulandelela izimpande zesifo emuva kwokhokho othize, ovamile. Ngenxa yokungabi nhlobo kokuhlukahluka kwezakhi zofuzo ngaphakathi kwala maqembu, izinguquko ezithile zidluliselwa kalula ezinzalweni, okuholela ezingeni eliphakeme lezifo ze-autosomal.
With Tay-Sachs, sibona lokhu ngamaqembu amane athile:
- Ama-Ashkenazi amaJuda anengozi enkulu kakhulu yeTay-Sachs, kanti omunye wabantu abangu-30 uyithwala. Uhlobo oluthile lokuguquguquka okubonwe ngaphakathi kwabantu (okuthiwa yi-1278insTATC) luholela esibhedlela se-Tay-Sachs esincane. E-United States, eyodwa yazo zonke izingane ezingu-3 500 ze-Ashkenazi zizophazamiseka.
- I-Cajuns eningizimu yeLouanaana nayo ishintshwe ngokuguquguquka okufanayo futhi inezinga elifanayo lokungena engozini. Ososayensi baye bakwazi ukulandelela izinkolelo zabathwali emuva kwekhulu le-18 kumbhangqwana oyedwa owasekela eFrance ababengewona amaJuda.
- AmaCanada aseFrance aseQuebec anengozi efanayo noKajuns nama-Ashkenazi amaJuda kodwa athintshwe yizinguquko ezimbili ezingafani. Phakathi kwalesi sabantu, kuthathwa ukuthi ukukodwa noma kokubili ukuguqulwa kwemvelo kuye kwavela eNormandy noma ePherche kuya ekoloni yaseNew France esikhathini esithile ngasekuqaleni kwekhulu le-17.
- Abantu base-Ireland baseMelika abavame ukhathazekile kodwa banamathuba angama-50 okuba ngumthwali. Ingozi ibonakala iyinkulu phakathi kwemibhangqwana enenani okungenani abathathu bogogo base-Ireland phakathi kwabo.
Ukuxilongwa
Ngaphandle kwezibonakaliso zezimoto nezingqondweni, lesi sinye sezibonakaliso ezinganeni kubonakala okungabonakali okuthiwa "i-cherry spot". Isimo, esichazwe i-oval, ukuvuvukala okubomvu ku- retina , kubonakala kalula ngesikhathi sokuhlola iso. I-cherry spot ibonakala kuzo zonke izinsana ezinesifo se-Tay-Sachs kanye nezinye izingane. Ayibonakali kubantu abadala.
Ngokusekelwe emlandweni womndeni kanye nokubonakala kwezimpawu, udokotela uzoqinisekisa ukuthi uhlolwe ngokuyala ukuhlolwa kwegazi ukuze ahlole amazinga we-hexosaminidase A, okuyoba okuphansi noma engekho. Uma kukhona ukungabaza mayelana nokuxilongwa, udokotela angenza ukuhlolwa kofuzo ukuqinisekisa ukuguqulwa kwe- HEXA .
Ukwelapha
Akukho ukwelashwa kwesifo se-Tay-Sachs. Ukwelashwa ngokuyinhloko kuqondiswa ekuphathweni kwezimpawu, okungase zifake:
- Imishanguzo yokulwa ne-anti-gaypentin noma i-lamotrigine
- Ama-antibiotics ukuvimbela noma ukuphatha isifiso se-pneumonia
- I-physiotherapy esifubeni ukuphatha ukungqubuzana nokuphefumula
- Ukwelashwa ngokomzimba ukugcina amalunga eguquguqukayo
- Imithi efana ne- trihexyphenidyl noma i- glycopyrrolate yokulawula ukukhiqizwa kwemathe futhi ivimbele ukuwa
- Ukusebenzisa amabhodlela omntwana oklanyelwe abantwana abanezinhlanzi ezinamahloni ukuze basize ekugwinya
- Ama-relaxation ama-muscle afana ne-diazepam ukuphatha ukuqina nokucindezela
- Amapayipi okudla angakhululwa ngekhaleni (i- nasogastric ) noma ahlinzekwe ngesisu ngaphakathi kwesisu (gastrostomy endoscopic, noma i-PEG tube)
Nakuba ucwaningo lwe-gene ne-enzyme yokuguqula ukwelashwa luhlolwa njengendlela yokuphulukisa noma ukunciphisa ukuqhuma kwesifo se-Tay-Sachs, iningi labo lisesiteji sokuqala socwaningo.
Ukuvimbela
Ekugcineni, indlela kuphela yokuvimbela iTay-Sachs ukukhomba imibhangqwana esengozini enkulu futhi ibasize ekwenzeni izinqumo ezifanele zokuzala. Kuye ngesimo, ukungenela kungahle kwenzeke ngaphambi noma ngesikhathi sokukhulelwa. Kwezinye izimo, kungase kube nezinkinga zokuziphatha noma zokuziphatha okufanele zicatshangelwe.
Phakathi kokukhethwa kukho:
- Ngesikhathi sokukhulelwa, i-amniocentesis noma i-chorionic villus sampling (CVS) ingasetshenziselwa ukuthola ama-fetal cell for testing genetics. Imibhangqwana inganquma ukuthi ingabe isisu ngokusekelwe emiphumeleni.
- Ababhangqwana abatholakalayo nge-vitro fertilization (IVF) bangaba namaqanda ahlolwe ngokocansi ngaphambi kokufakelwa. Ngokwenza kanjalo, lo mbhangqwana ungaqinisekisa ukuthi imibungu enempilo kuphela idluliselwa esibelethweni. Ngenkathi isebenza kahle, i-IVF iyindlela ebiza kakhulu.
- Emiphakathini yamaJuda yama-Orthodox, iqembu elibizwa ngokuthi uDor Yeshorim liqhuba ukuhlolwa okungabonakali kwesifo se-Tay-Sachs esikoleni esiphakeme. Abantu abahlolwayo banikwa ikhodi yokuhlonza amadijithi ayisithupha. Lapho bethola umngane womshado ongashadile naye, lo mbhangqwana ungashayela ucingo olusha futhi usebenzise izinombolo zabo ze-ID ukuhlola "ukuhambisana" kwazo. Uma bobabili beyizinkampani, bazobekwa "abangahambisani."
Izwi elivela
Uma ubhekene nomphumela omuhle wesifo se-Tay-Sachs-njengokuthi uthwala noma umzali-kubalulekile ukukhuluma nodokotela ochwepheshe ukuqonda ngokugcwele lokho okutholakala khona kanye nokuthi yini ongakhetha ngayo. Akukho okukhetha okungalungile noma okulungile, okuwukuthi wena kanye nomlingani wakho nonke unelungelo lokugcina imfihlo nokuhlonipha.
> Imithombo:
> Bley, A .; Giannikopoulos, O .; Hayden D. et al. "Umlando wemvelo wezingane ezincane ze-G (M2) ze-gangliosidosis." Izingane zokwelapha. 2011; 128: e1233-41. I-DOI: 10.1542 / ama-peds.2011-0078.
> Hall, P .; I-Minnich, i-S .; Teigen, C. et al. "Ukubona ukukhathazeka kwesitoreji se-lysosomal: i-GM2 gangliosidoses." I-Curr Protoc Hum Genet . 2014; 83: 17.161-8. I-DOI: 10.1002 / 0471142905.hg1716s83.
> Izikhungo Zikazwelonke Zempilo. "I-Tay-Sachs Izifo." I-Gen Home Ref. I-Bethesda, e-Maryland; ibuyekeziwe ngoJanuwari 23, 2018.
> Schneider, A .; Nakagawa, S .; Hlala, R. et al. "Ukuhlolwa kwabantu base-Tay-Sachs ase-Population phakathi kwama-Ashkenazi asebekhulile abangamaJuda ekhulwini lama-21: i-hexosaminidase I-enzyme test is indinganiso yokuhlolwa okunembile." Am J Med Genet A. 2009; 149A: 2444-7. I-DOI: 10.1002 / ajmg.a.33085.
> Steiner K .; Brenck, J .; I-Goericke, S. et al. "I-Cerebellar atrophy kanye nobuthakathaka bemisipha: isifo se-Tay-Sachs sekwephuzile ngaphandle kwamaJuda." I-BMJ Case Rep . 2016; 2016: bcr2016214634. I-DOI: 10.1136 / bcr-2016-214634.