I-Disorder Disorder Genetically LinkedIn kumaqela athile
Isifo seTay-Sachs sisifo esingaqhelekanga se-genetic esivimba ngokubanzi kwiintlanga ezithile. Ibonakala ngokutshabalaliswa kweeseli zesistim kwinkqubo yesantya yomnatha kwaye kunokukhokelela ekuphofeni, ukungaboniyo, nokulahlekelwa kwemisebenzi yengqondo kunye nemizimba.
I-Tay-Sachs ingxaki yokuguqula i- autosomal , oku kuthetha ukuba sisifo esizuze kubazali bomntu.
Esi sifo sichaphazela utshintsho kwi- HEXA gene, apho kukho ukungafani kwama-100. Ngokuxhomekeke kwiinguqu eziphihliweyo, isifo sinokuthatha iifom ezahlukeneyo, kubangela ukugula phakathi kwasebuntwaneni, ebuntwaneni, okanye emdala.
Ukufa kufuthi kubakho kubantwana kwiminyaka embalwa yeempawu zokuqala, njengoko ukutshabalaliswa kwamaseli enyongwane kubashiya abakwazi ukufuduka okanye baze batye. Kwizigaba eziphambili, abantwana baya kuba banomdla wokutheleleka. Ininzi ifa ngenxa yeengxaki ze- pneumonia okanye ezinye izifo zokuphefumula.
Ngelixa lingaqhelekanga kubo bonke abantu, iTay-Sachs ibonakala rhoqo kumaYuda aseAshkenazi, eCajuns aseLouaana aseMzantsi, amaCanada aseFransi aseMzantsi Quebec nase-Irish America.
Indlela Ebangelwa Izifo
I-gene ye- HEXA inikeza imiyalelo yokwenza uhlobo lwe-enzyme eyaziwa ngokuba yi-hexosaminidase A. Le enzyme inoxanduva lokuphula into enamafutha ebizwa ngokuba yi-GM2 gangliosideside.
Kubantu abanesifo seTay-Sachs, i-hexosaminidase A ayisekho imisebenzi njengoko kufanelekile. Ngaphandle kwendlela yokwahlula la mafutha, amazinga anetyhefu aqala ukuqokelela kwiiseli zesisongela zengqondo kunye nomthambo womgudu, ekugqibeleni uzibhubhise kwaye zikhokelela kwiimpawu zesifo.
Izifo zeTay-Sachs ezingabantwana
Iimpawu neempawu zeTay-Sachs isifo ziyahluka xa ziqala ukuqala.
Uhlobo oluqhelekileyo lwesifo seT Tay-Sachs, iimpawu zokuqala eziza kubonakala phakathi kweenyanga ezintathu nenyanga ezintandathu. Eli lixesha xa abazali beqala ukuqaphela ukuba uphuhliso lwabantwana kunye nokunyakaza kwabo kuye kwacotha.
Ngeli nqanaba, umntwana angakwazi ukujika okanye ukuhlala. Ukuba umntwana usekhulile, unokuba nobunzima bokukhwela okanye ukuphakamisa ingalo. Baya kubonisa kwakhona ukunyanzeliswa, ukuphendula ngokukrakra kumsindo omsindo kwaye kungabonakala kungenanto okanye i-lethargic. Ukusuka apho, ukungonakaliswa kwemisebenzi yengqondo kunye nomzimba kudla ngokungafihliyo.
Iimpawu ziquka:
- Ukuxhamla
- Ukulahleka kombono kunye nobufama
- Ukuvahleka nokuvalelwa
- Ukuxhoma kunye nobunzima bokugwinya (i- dysphagia )
- Ukuqina komzimba kunye nokunyanzelisa
- I-atrophy
- Ukulahlekelwa kwemisebenzi yengqondo kunye nengqiqo
- Ukukhubazeka
- Ukufa
Ukufa, nangona kungcono kunonyango lwonyango, ngokuqhelekileyo kwenzeka ngaphambi kokudala kweminyaka emine.
Iifom eziqhelekileyo eziqhelekileyo
Ngoxa i-Tay-Sachs encinci yindlela ekhethekileyo yesifo, kukho iintlobo eziqhelekileyo ezibonakalayo kubantwana nakubantu abadala. Isikhathi sokuqala kwesi sifo sinxulumene nokudibanisa kwamajeni azuzwe ngabazali.
Kwiifom ezimbini eziqhelekileyo:
- Izifo ze-Juvenile Tay-Sachs zivame ukubonakalisa iimpawu nokuba ziphi na eziphakathi kweminyaka emibili ukuya kwi-10 ubudala. Njengoko i-Tay-Sachs encinci, ukuqhubela phambili kwesi sifo kungonakali, okukhokelela ekudakaleni kwamakhono okuqonda, ukuthetha, kunye nokuxhamla imisipha kunye ne-dysphagia kunye nokunyaniseka. Ukufa kufuthi kubakho phakathi kweminyaka emihlanu nangama-15.
- Isifo esipheleleyo sesifo seTay-Sachs (esaziwa ngokuba ngumntu omdala iTay-Sachs) sisinqabile kakhulu kwaye ngokuqhelekileyo sikhula kubantu abadala phakathi kwama-30 no-40. Ngokungafani nezinye iifom zesifo, ngokuqhelekileyo asiyikufa kwaye uyayeka ukuqhubeka emva kokuba isixa sithuba. Ngeli xesha, umntu unokufumana ukuhla kwezakhono zengqondo, ukungaqiniseki, ubunzima beentetho, i-dysphagia, ukuxhamla, kunye ne-schizophrenia-njengengqondo yengqondo. Abantu abaye bafika emva kwexesha iTay Sachs banokukhubazeka ngokusisigxina kwaye bafuna isihlalo sabakhubazekile esigcwele.
Genetics nefa
Njengalo naluphi na uhlobo lwe-autosomal disorder, i-Tay-Sachs ivela xa abazali ababini bengenaso isifo ngasinye banomdla kwi- gene gene .
Abazali bajongwa "ngabathwali" kuba ngamnye unomxholo ophezulu (oqhelekileyo) we-gene kunye nekopi enye ye-gene. Kuphela xa umntu enesibini i-genes esebenzayo i-Tay-Sachs inokwenzeka.
Ukuba ngaba abazali bobabini bezithuthi, umntwana uneepesenti ezingama-25 zokufumana iifayile ezimbini ezithintekayo (kunye ne-Tay-Sachs), ama-50 ekhulwini amathuba okufumana enye imfuyo ephezulu kunye neyodwa (kwaye ibe ngumqhubi), kunye neepesenti ezingama-25 yokufumana iimbumba ezimbini ezibalulekileyo (kwaye ungasalathintekanga).
Ngenxa yokuba kuneenguqu ezingaphezu kwe-100 zeinguqulelo ze- HEXA , ukudibanisa okungafaniyo kunokuphelisa intsingiselo yezinto ezahlukeneyo. Kwezinye iimeko, idibaniselwano iya kubakho ukuqala kwangoko kunye nokukhula kancinci kwezifo kwaye, kwezinye iimeko, emva kwexesha kuza kuqala kwaye kuqhutywe isifo esicothayo.
Nangona izazinzulu zisondele ekuqondeni ukuba zeziphi izidibaniso ezibhekiselele kwiziphi iintlobo zesifo, kusekho izikhalazo ezinkulu kwi-genetic understanding of Tay-Sachs kuzo zonke iifom zayo.
Mngcipheko
Njengenqabile njengeTay-Sachs kubantu bonke-abavela kwiindawo eziza kuzalwa ezingama-320,000-kunabantu abathile apho ingozi iphezulu kakhulu.
Umngcipheko unyanzeleke kakhulu ukuba kuthiwa "abantu abasunguli" apho amaqela angakwazi ukulandelela iingcambu zesi sifo ku-okhokho oqhelekileyo. Ngenxa yokungabikho kokuhlukahluka kofuzo kula maqela, utshintsho oluthile luye lwadluliselwa ngokulula kwimbewu, okubangelwa amazinga aphakamileyo yezifo ze-autosomal.
NgoTay-Sachs, sibona oku ngamaqela amane athile:
- AmaYuda ase-Ashkenazi anengozi enkulu kakhulu yeTay-Sachs, kunye nomntu omnye kubo bonke abantu abangama-30. Uhlobo oluthile lokuguqulwa kwezinto ezibonakalayo kubantu (elibizwa ngokuba yi-1278insTATC) lukhokelela kwisifo se-Tay-Sachs. EUnited States, enye yee-3,500 iintsana ezingama-Ashkenazi ziya kuthinteka.
- I-Cajuns eningizimu yaseLouaana nayo ichaphazelekayo yenguqu efanayo kwaye ibe neyona nqanaba eliyingcipheko. Iingcali zenzululwazi ziye zakwazi ukulandelela inzala yabathwali babuyela kwinkulungwane yeshumi elinesibhozo kumnye umtshato osisiseko esisodwa eFrance abangengamaYuda.
- AmaKhanadi aseFrancis eQuebec anomngcipheko ofana noKajuns kunye nama-Ashkenazi amaYuda kodwa athatyathwa yimimiselo emibili ngokupheleleyo. Kulo manani, kukho enye into okanye iinguqu zombini zikholelwa ekubeni zivela eNormandy okanye ePherche ziya kwi-coloni yaseNew France kwithuba elithile ngekhulu le-17.
- Abantu base-Ireland baseMerika abachaphazelekayo kakhulu kodwa banako ukufumana elinye ithuba eli-50 lokuba ngumthwali. Umngcipheko ubonakala ube ngowona mkhulu phakathi kwezibini ezithatha ubuncinane abathathu oomkhulu base-Ireland phakathi kwabo.
Ukuxilongwa
Ngaphandle kweempawu neempawu zesifo, esinye sezibonakaliso ezingabonakaliyo kubantwana yinto engavamile yokubizwa ngokuba yi "cherry spot". Imeko, ebonakalayo nge-oval, i-red cololoration kwi- retina , ibonakala lula ngexesha lokuhlolwa kwamehlo. I-cherry spot ibonakala kuzo zonke iintsana ezineTay-Sachs kunye nabanye abantwana. Ayibonakali kubantu abadala.
Ngokusekelwe kwimbali yentsapho kunye nokubonakala kweempawu, ugqirha uya kugqiba ukuxilongwa ngokumisela iimvavanyo zegazi ukuvavanya amanqanaba e-hexosaminidase A, eya kuba iphantsi okanye ayikho. Ukuba kukho naluphi na ukungathandabuzeki malunga nokuxilongwa, ugqirha unokwenza uvavanyo lwezofuzo ukuqinisekisa ukuguquka kwe- HEXA .
Unyango
Akukho naluphi unyango lweTay-Sachs. Uphulo lujoliswe ngokukodwa ekulawuleni iimpawu, ezibandakanya:
- Amachiza okulwa neentambo ezifana ne-gabapentin okanye i-lamotrigine
- I-antibiotics ukukhusela okanye ukuphatha i- aspiration pneumonia
- I-chest physiotherapy ukunyanga ukuphefumula ukuphefumula
- Ulwaphulo lwangokwenyama ukuze kugcinwe amajoyina
- Amachiza afana ne- trihexyphenidyl okanye i- glycopyrrolate ukulawula ukuveliswa kwemali kunye nokukhusela ukuwa
- Ukusebenzisa iibhotile zentsana eziklanyelwe abantwana abaneengxaki zokuncedisa
- Ukuzihlaziya kwemizimba njenge-diazepam ukunyamezela nokuqina
- Izigulana ezondla ziza kuziswa ngempumlo (i- nasogastric ) okanye iqhutywe kwisisu (i-endoscopic gastrostomy, okanye i-PEG tube)
Nangona uphando lwemizimba kunye nophando lwe-enzyme yokutshintshwa kwonyango lujongwa njengendlela yokunyanga okanye ukunciphisa ukuqhubela phambili kwesifo se-Tay-Sachs, uninzi lwabo lusekuqaleni kwiphando.
Thintelo
Ekugqibeleni, indlela yodwa yokukhusela iTay-Sachs kukuchonga imibhangqwana esengozini enkulu kwaye ibancedise ekwenzeni ukhetho olufanelekileyo lokuzala. Ngokuxhomekeke kwimeko, ukungenelela kunokwenzeka ngaphambi okanye ngexesha lokukhulelwa. Kwezinye iimeko, kunokubakho imigaqo yokuziphatha okanye yokuziphatha ekufuneka iqwalaselwe.
Phakathi kwezi ndlela:
- Ngethuba lokukhulelwa, i-amniocentesis okanye i-chorionic sampling (CVS) ingasetyenziselwa ukufumana iiseli ze-fetal zokuvavanya i-genetic. Ababini banokugqiba isigqibo sokuba ngaba isisu sisuselwe kwiziphumo.
- Abantu abatshatyalaliswayo kwi-vitro fertilization (IVF) banokuvavanywa ngamaqanda azaliswe ngumhlaza ngaphambi kokuba afakwe. Ngokwenza njalo, esi sibini sinokuqinisekisa ukuba imibusi enempilo kuphela idluliselwa kwisibeleko. Ngoxa iphumelele, i-IVF yinto ebiza kakhulu.
- Kwimihlali yamaYuda, iqela elibizwa ngokuba nguDor Yeshorim lenza i-screenings engaziwayo ye-Tay-Sachs kwizikolo eziphakamileyo zezikolo. Abantu abaphantsi kokuvavanywa banikezwa ikhowudi yokuchongwa kwamadijithi ayisithandathu. Xa befumene iqabane elifanelekileyo, isibini sinokubiza umnxeba kwaye sisebenzise iinombolo zabo zeAzisi ukuvavanya "ukuhambelana kwazo". Ukuba bobabini bezithuthi, babeza kuthiwa "abahambelaniyo."
ILizwi
Ukuba ubhekene nesiphumo esihle se-Tay-Sachs-mhlawumbi njengomthwali okanye umzali-kubalulekile ukuthetha nodokotela oyingcali ukuba aqonde ngokucacileyo oko kuthethwa yi-diagnostic and what choices you are. Akukho zigqibo ezingalunganga okanye ezifanelekileyo, ezizodwa wena kunye neqabane lakho unelungelo lokugcina imfihlo kunye nentlonipho.
> Imithombo:
> Bley, A .; Giannikopoulos, O .; Hayden D. et al. "Imbali yendalo ye-infancy G (M2) ye-gangliosidosis." Pediatrics. 2011; 128: e1233-41. INGXELO: 10.1542 / iindlwana.2011-0078.
> IHolo, uP .; Minnich, S .; Teigen, C. et al. "Ukuchonga iingxaki zokugcina i-lysosomal: i-GM2 ganglio." Curr Protoc Hum Genet . 2014; 83: 17.161-8. INGXELO: 10.1002 / 0471142905.hg1716s83.
> AmaZiko eNational Health. "I-Tay-Sachs Disease." I-Ref Home yaseKhaya. EBethesda, eMaryn; hlaziywa ngoJanuwari 23, 2018.
> Schneider, A .; Nakagawa, S .; Gcina, R. et al. Ukuhlolwa kwendawo yabantu baseTay-Sachs phakathi kwabase-Ashkenazi abaselula abangamaYuda ngekhulu lama-21: i-hexosaminidase I-enzyme test (test enzyme test) ibalulekile ekuhlolweni oluchanekileyo. " U-J Med Genet A. 2009; 149A: 2444-7. INGXELO: 10.1002 / ajmg.a.33085.
> Steiner K .; Brenck, J .; Goericke, S. et al. "I-Cerebellar atrophy kunye nobuthakathaka be-muscle: isifo seTay-Sachs siphumelele ngaphandle kwamaYuda." I-BMJ Case Rep . 2016; 2016: bcr2016214634. INGXELO: 10.1136 / bcr-2016-214634.