I-Bloom Syndrome: Uyazazi yini lezi zifo ezingavamile zofuzo?

Wake wezwa nge-Bloom Syndrome? Mhlawumbe leli gama lisha kuwe. Empeleni alivamile kakhulu, okusho ukuthi libikwe kubantu abambalwa kakhulu emhlabeni jikelele. Kodwa-ke, kubaluleke kakhulu ukuqaphela lokhu, ngoba kuyisimo sofuzo esingathinta izinhlelo eziningana emzimbeni wethu. Ngakho-ke, ake sixoxe ngakho ngokuningiliziwe futhi namuhla.

Iyini i-Bloom Syndrome?

Kalula nje, i-Bloom Syndrome yisimo sofuzo esizuzwa kubazali kubantwana. Lokhu kubangelwa ukuguquka kwezakhi zofuzo ze-BLM emzimbeni wethu, okubangela ukuba izakhi zofuzo zingasebenzi kahle. Lokhu kungabangela izinguquko ezinhlelweni ezahlukene emzimbeni, njengokukhula kanye nesistimu yomzimba yokuzivikela.

Abantu abaphila nalesi simo banamathuba amaningi okuthola izifo njalo. Kukhona nokubambezeleka okukhulu kokukhula, ukuzwela ilanga, kanye nengozi eyengeziwe yomdlavuza . Lokhu kungase kuzwakale kuyesabisa kancane, kodwa into ebalulekile ukuqaphela lokhu futhi uthathe izinyathelo ezidingekayo.

Ubani othinteka kakhulu yilesi simo?

I-Bloom Syndrome yisimo esingavamile esingathinta noma yiliphi iqembu lezizwe emhlabeni. Kodwa-ke, ucwaningo luthole ukuthi sivame kakhulu kubantu bozalo lwamaJuda aseMpumalanga Yurophu, abaziwa ngokuthi ama-Ashkenazi. Kodwa-ke, lokhu akusho ukuthi akekho omunye umuntu ongasithola. Okwamanje kunamacala angaphansi kuka-300 aziwayo alesi simo emhlabeni jikelele. Ngakho ungabona ukuthi singavamile kangakanani.

I-Bloom Syndrome ikuthinta kanjani wena noma ingane yakho?

Akuwona wonke umuntu onalesi simo ozoba nezimpawu ezifanayo. Abanye abantu bangase babe nezimpawu ezimbalwa, kanti abanye bangase bathinteke kakhulu. Kodwa kunezimpawu ezithile ezivamile.

Izici ezibonakalayo ezibonakalayo

• Mfushane kunobude obujwayelekile: Laba bantu bangase bakhule babe bafushane kunomntwana ojwayelekile.
• Ubuso obuncane nezindlebe ezinkulu: Ungabona umehluko othile ngesimo sobuso.
• Izwi elizwakalayo: Kungase kube nomehluko ezwini.

Izimo zempilo ezingaba yingozi enkulu

Ngaphezu kwalezi zici zomzimba, abantu abane-Bloom Syndrome basengozini enkulu yokuthola ezinye izinkinga zempilo.

• Isifo Sokuvinjelwa Kwamaphaphu Esingapheli (i-COPD): Izinkinga zesikhathi eside ngamaphaphu zingavela.
• Ukutheleleka okuvamile: Ukutheleleka, ikakhulukazi ezindlebeni nasemaphashini, kungase kwenzeke njalo. Lokhu kungase kube ngenxa yobuthakathaka obuthile ohlelweni lwabo lokuzivikela komzimba.
• Ukumelana ne-insulin kanye nesifo sikashukela:Kukhona ingozi yokuthola izifo ezifana nesifo sikashukela.
• Ukuqubuka kwesikhumba noma izilonda lapho bevezwa elangeni: Abanye abantu bangase babe nezinkinga zesikhumba ezibomvu, ezifana ne-eczema uma bevezwa elangeni.

Masiqaphele futhi ingozi yomdlavuza.

Lena yinkinga enkulu kakhulu ehlotshaniswa ne-Bloom Syndrome. Abantu abanalesi simo basengozini enkulu kakhulu yokuthola izinhlobo eziningana zomdlavuza besebancane kunomuntu ojwayelekile. Futhi, kukhona ithuba lokuthola umdlavuza ongaphezu kowodwa. Ngakho-ke, kufanele kunakwe ngokukhethekile lokhu.

Ezinye zezinhlobo zomdlavuza eziyingozi kakhulu yilezi:

• Isimila sikaWilms - Lolu uhlobo lomdlavuza oluvela ezinso.
• Umdlavuza wesisu - okungukuthi, umdlavuza wamathumbu nesisu.
• I-Leukemia - Umdlavuza ohlobene negazi.
• I-Lymphoma - umdlavuza wesistimu ye-lymphatic.
• I-Osteosarcoma - Umdlavuza owenzeka emathanjeni.
• Umdlavuza wesikhumba - ikakhulukazi uhlobo olubizwa ngokuthi umdlavuza we-squamous cell.

Kuvamile ukuzizwa wesaba uma uzwa ngalezi zinhlanzana. Kodwa-ke, ukuhlolwa njalo njengoba kunconywe udokotela wakho kungasiza ekuziboneni kusenesikhathi. Lokhu kwandisa amathuba okwelashwa.

Ingabe akhona amanye amagama e-Bloom Syndrome?

Yebo, ngezinye izikhathi odokotela babiza lesi simo ngokuthi “i-Bloom-Torre-Macachacek syndrome.” Elinye igama elithi “i-congenital telangiectatic erythema.” Nakuba leli gama lingase lizwakale liyinkimbinkimbi kancane, igama elivame ukusetshenziswa kakhulu yi-Bloom Syndrome.

Iyini imbangela yalesi simo? Ake sibheke kabanzi.

Njengoba sishilo ngaphambili, i-Bloom Syndrome iyisifo sofuzo. Okusho ukuthi, sibangelwa yiphutha elisezakhini zofuzo esilizuza kubazali bethu. Iseli ngalinye lethu linento ebizwa ngokuthi ama-chromosome. Lawa ma-chromosome yiwo agcina ulwazi lwethu lofuzo.

I-Bloom Syndrome ithintwa ngqo yi -gene ebizwa ngokuthi i-BLM. Le gene isiza ukulungisa i-DNA yethu nokugcina ukuzinza kwama-chromosome. Cabanga nje, uma le gene ye-BLM ingasebenzi kahle, kunethuba elikhulu lokuthi kwenzeke amaphutha e-DNA lapho amaseli ethu ehlukana. Leso yisona sizathu esiyinhloko salesi simo.

Uma bobabili abazali benoguquko ku-BLM gene (okungukuthi, bangabathwali balesi simo), khona-ke lapho benomntwana, kunethuba elilodwa kwabane lokuthi ingane izozuza lesi simo ngokukhulelwa ngakunye . Lokhu kusho ukuthi i-Bloom Syndrome yenzeka kuphela uma ingane izuza womabili amakhophi e-BLM gene eguquliwe kumama nakubaba.

Ziyini izimpawu ze-Bloom Syndrome?

Lesi simo singadala izimpawu ezahlukahlukene. Akuwona wonke umuntu ozobhekana nazo zonke. Ezinye izimpawu zingase zibe zicashile kakhulu, kanti ezinye zingase zibe sobala kakhulu.

Izimpawu ezivame ukubonakala yilezi:

• Noma yikuphi ukukhubazeka ebusweni, endaweni yomhlathi, nasezindlebeni: isibonelo, ubuso obuncane, izindlebe ezinkulu.
• Izinguquko ohlelweni lwe-endocrine kanye nohlelo lokuzivikela komzimba: Izinguquko ekusebenzeni kwama-hormone kanye nokumelana nezifo.
• Ukulibaziseka kokukhula kanye nokwengqondo: Ezinye izingane zingase zibe nobunzima bokufunda.
• Ukuzwela kakhulu elangeni: Ngisho nesikhathi esifushane sokuchayeka elangeni kungabangela isikhumba ukuba sishise futhi sibe bomvu.
• Ukutheleleka okuvamile: Ikakhulukazi ukutheleleka kwezindlebe kanye nokutheleleka kwamaphaphu (njenge-pneumonia) kungase kwenzeke njalo.
• Izinkinga zokukhula ngesikhathi sesigaba sokukhulelwa noma ngemva kokuzalwa: Ingane ingase yehle isisindo kanye nokuphakama kokubili esibelethweni kanye nangemva kokuzalwa.
• Izinkinga zesikhumba: Amabala abomvu, ukuqubuka, kanye nokuqubuka, ikakhulukazi uma kuvezwa elangeni. Lokhu ngezinye izikhathi kungasakazeka ezihlathini nasemakhaleni ngesimo sebhabhathane.

Odokotela bakuthola kanjani lokhu?

Ngezinye izikhathi, lesi simo singatholakala ngesikhathi umntwana esesesibelethweni. Isibonelo, uma iskeni sibonisa ukuthi umntwana akakhuli njengoba kulindelekile, odokotela bangase batuse ukuhlolwa okukhethekile, njenge-genetic amniocentesis, ebheka izakhi zofuzo zomntwana.

Noma, ngemva kokuzalwa komntwana, wena noma udokotela wezingane obona umntwana ningase nibone ezinye zalezi zimpawu. Yilapho-ke ukuhlolwa okwengeziwe kunganconywa khona.

Yiziphi izivivinyo zokuxilonga?

Odokotela bazoqala ngokumhlola ngokomzimba umntwana. Bese, bangenza ukuhlolwa kwegazi ukuhlola isakhiwo sama-chromosome. Lokhu kunganquma ngokuqinisekile ukuthi kukhona yini iphutha ku-BLM gene.

Yiziphi izindlela zokwelapha i-Bloom Syndrome?

Uma ngikhuluma iqiniso, akukho ukwelashwa okuqondile okungayelapha ngokuphelele i-Bloom Syndrome. Ukwelashwa kwamanje kuhloselwe kakhulu ukuphatha izimpawu nokuvikela ezinkingeni ezingaba khona.

• Izinkinga zokudla okunempilo ezinganeni ezincane: Izingane ezinalesi simo zingase zilahlekelwe yisifiso sokudla kanye nokwehla kwesisindo. Ngakho-ke, odokotela bangase batuse uketshezi olwengeziwe kanye nokudla okunempilo ukuze kuvinjelwe ukuphelelwa amanzi emzimbeni kanye nokungondleki kahle.
• Ukuhlolwa Komdlavuza: Njengoba sixoxile ngaphambili, ngenxa yengozi ephezulu yomdlavuza, odokotela batusa ukuhlolwa komdlavuza njalo . Lokhu kungasiza ekutholeni umdlavuza kusenesikhathi uma uqala.
• Ama-antibiotic okutheleleka:Ngenxa yokuthi ukutheleleka kwenzeka kaningi, kungadingeka ama-antibiotic ukuze kwelashwe.

Ingabe ikhona indlela yokuvimbela lesi simo?

I-Bloom Syndrome iyisimo sofuzo, okusho ukuthi sizuzwe njengefa, ngakho-ke akukho esingakwenza ukuvimbela ukuthi singenzeki. Asikwazi ukuvimba ukuguquka kwezakhi zofuzo.

Kodwa-ke, uma wena nomlingani wakho nihlela ukuba nomntwana, ukwelulekwa ngofuzo kanye nokuhlolwa ngofuzo kungenziwa. Lokhu kungakusiza ukuthola ukuthi nobabili ninokuguqulwa kofuzo lwe-BLM okuhlobene ne-Bloom Syndrome, okusho ukuthi ningabathwali balesi simo. Lokhu kungakusiza ukuthi uqonde ingozi yokudlulisela lesi simo enganeni yesikhathi esizayo.

Yini okufanele ngiyilindele uma mina noma ingane yami sine-Bloom Syndrome?

Uma une-Bloom Syndrome, usengozini enkulu yokuthola izinhlobo ezithile zomdlavuza, ngokuvamile lapho usemusha. Eqinisweni, imbangela ehamba phambili yokufa kwabantu abanalesi simo izinkinga ezibangelwa umdlavuza. Kodwa-ke, uma umdlavuza utholakala kusenesikhathi, amathuba okwelashwa ayanda. Ngakho-ke, kubalulekile ukuba nokuhlolwa njalo komdlavuza njengoba kunconywe udokotela wakho.

Abantu abane-Bloom Syndrome bazwela kakhulu emisebeni e-ionizing. Lo msebe ungalimaza amangqamuzana. Ngakho-ke, udokotela wakho angakweluleka ukuthi ugweme noma unciphise ukuchayeka kwakho kulezi zinhlobo zemisebe:

• Ukuskena kwe-CT
• I-X-ray

Uma unomdlavuza, i-Bloom Syndrome ingathinta ukwelashwa kwakho komdlavuza. Odokotela bavame ukweluleka abantu abanalesi simo ukuba bagweme ukwelashwa ngemisebe.

Ingabe i-Bloom Syndrome ingelapheka?

Ngeshwa, ayikho ikhambi le-Bloom Syndrome. Uma wena noma ingane yakho ninayo le nkinga, iyisimo sokuphila konke. Kodwa-ke, lokhu akusho ukuthi kufanele ulahle ithemba. Abantu abaningi baphila nalesi simo baze babe badala. Into ebaluleke kakhulu ukuphatha izimpawu nokuqaphela izinkinga ezingaba khona.

Ngizinakekela kanjani mina noma ingane yami ene-Bloom Syndrome?

Into ebaluleke kakhulu ukulandela imiyalelo kadokotela wakho. Izokusiza ukuthi wena nomntwana wakho nihlale niphilile ngangokunokwenzeka.

Ikakhulukazi, khumbula ukufaka umuthi wokuvikela isikhumba, ukugqoka izingubo ezimboza isikhumba sakho, futhi ugqoke isigqoko noma nini lapho uphuma elangeni. Lokhu kungasiza ekunciphiseni umonakalo welanga esikhumbeni sakho.

Ukugeza izandla zakho njalo nokugwema izindawo ezinabantu abaningi ngangokunokwenzeka kungakusiza ekuvikeleni ezifweni. Futhi, ukudla ukudla okunempilo nokulala ngokwanele kubaluleke kakhulu empilweni yakho.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

I-Bloom Syndrome yisimo esingavamile, esibangelwa izakhi zofuzo esingabangela ukukhubazeka kokukhula, izici zobuso, ukuqubuka kwesikhumba, kanye nokutheleleka okuvamile. Okubaluleke kakhulu, abantu abanalesi simo basengozini enkulu yokuthola izinhlobo ezahlukene zomdlavuza.

Uma uneminye imibuzo mayelana nalokhu, noma uma ucabanga ukuthi ingane yakho inanoma yiziphi zalezi zimpawu, qiniseka ukuthi ubona udokotela ukuze uthole iseluleko. Khuluma nodokotela wakho mayelana nokuhlolwa njalo komdlavuza nokuthi yini ongayenza ukuze uhlale uphilile. Khumbula, ukutholakala kusenesikhathi kanye nokuphathwa okufanele kuyindlela engcono kakhulu yokuphila kahle nalesi simo. Ungakhathazeki, odokotela balapha ukuzokusiza.

I- Bloom syndrome, isifo sofuzo, i-BLM gene, ingozi yomdlavuza, ukuzwela ukukhanya kwelanga, ukubambezeleka kokukhula, ukutheleleka okuvamile