I-Bloom Syndrome: Ngaba uyayazi le meko ingaqhelekanga yemfuza?

Ngaba wakha weva ngeBloom Syndrome? Mhlawumbi eli gama litsha kuwe. Linqabile kakhulu, oko kuthetha ukuba libikwe kubantu abambalwa kakhulu kwihlabathi liphela. Nangona kunjalo, kubaluleke kakhulu ukuqaphela oku, kuba yimeko yemfuza enokuchaphazela iinkqubo ezininzi emzimbeni wethu. Ngoko ke, masithethe ngayo ngokweenkcukacha nangokulula namhlanje.

Yintoni iBloom Syndrome?

Ngamafutshane, iBloom Syndrome yimeko yemfuza efunyanwa ngabazali ukuya ebantwaneni. Oku kubangelwa kukuguquka kwejini ye-BLM emzimbeni wethu, okubangela ukuba ijini ingasebenzi kakuhle. Oku kunokubangela utshintsho kwiinkqubo ezahlukeneyo zomzimba, njengokukhula kunye nenkqubo yomzimba yokuzikhusela.

Abantu abaphila nale meko banamathuba amaninzi okufumana usulelo rhoqo. Kukwakho nokulibaziseka okukhulu kokukhula, ukuva ukukhanya kwelanga, kunye nomngcipheko ophezulu womhlaza . Oku kunokuvakala kuyoyikisa kancinci, kodwa into ebalulekileyo kukwazi oku kwaye uthathe amanyathelo afunekayo.

Ngubani ochaphazeleka kakhulu yile meko?

I-Bloom Syndrome yimeko engaqhelekanga enokuchaphazela naluphi na uhlanga ehlabathini. Nangona kunjalo, uphando lufumanise ukuba ixhaphake kakhulu kubantu baseMpuma Yurophu abangamaJuda, abaziwa ngokuba yi-Ashkenazi. Nangona kunjalo, oku akuthethi ukuba akukho mntu unokufumana esi sifo. Okwangoku kukho iimeko ezingaphantsi kwama-300 ezaziwayo zale meko kwihlabathi liphela. Ngoko ke ungabona ukuba ayiqhelekanga kangakanani.

I-Bloom Syndrome ikuchaphazela njani wena okanye umntwana wakho?

Ayingabo bonke abantu abanale meko abaya kuba neempawu ezifanayo. Abanye abantu banokuba neempawu ezimbalwa, ngelixa abanye banokuchaphazeleka kakhulu. Kodwa kukho ezinye iimpawu eziqhelekileyo.

Iimpawu ezibonakalayo ezibonakalayo

• Mfutshane kunobude obuqhelekileyo: Aba bantu banokukhula babe bafutshane kunomntwana oqhelekileyo.
• Ubuso obumxinwa kunye neendlebe ezinkulu: Ungabona umahluko othile kwimilo yobuso.
• Ilizwi elivakala liphezulu: Kusenokubakho umahluko kwilizwi.

Iimeko zempilo ezinokubangela umngcipheko omkhulu

Ukongeza kwezi mpawu zomzimba, abantu abane-Bloom Syndrome basengozini enkulu yokuphuhlisa ezinye iingxaki zempilo.

• Isifo Esingapheliyo Sokuqanda Amaphaphu (i-COPD): Iingxaki zexesha elide ngemiphunga zinokwenzeka.
• Usulelo oluqhelekileyo: Usulelo, ingakumbi ezindlebeni nasemiphungeni, lunokwenzeka rhoqo. Oku kusenokubangelwa bubuthathaka obuthile kwinkqubo yabo yokuzikhusela.
• Ukumelana ne-insulin kunye nesifo seswekile:Kukho umngcipheko wokufumana izifo ezifana nesifo seswekile.
• Ukuqhambuka kwesikhumba okanye izilonda xa zibekwe elangeni: Abanye abantu banokuba neemeko zesikhumba ezibomvu, ezifana ne-eczema xa bebekwe elangeni.

Masiqaphele nomngcipheko womhlaza.

Le yeyona ngxaki inzima enxulunyaniswa neBloom Syndrome. Abantu abanale meko basengozini enkulu yokufumana iintlobo ezahlukeneyo zomhlaza besebancinci kunomntu oqhelekileyo. Kwakhona, kukho ithuba lokufumana iintlobo ezahlukeneyo zomhlaza. Ke ngoko, kufuneka kuqwalaselwe ngokukodwa oku.

Ezinye zezona ntlobo zomhlaza ziyingozi kakhulu zezi:

• I-Wilms tumor - Olu luhlobo lomhlaza oluvela kwizintso.
• Umhlaza wesisu - oko kukuthi, umhlaza wamathumbu nesisu.
• I-Leukemia - Umhlaza onxulumene negazi.
• I-Lymphoma - umhlaza wenkqubo ye-lymphatic.
• I-Osteosarcoma - Umhlaza owenzeka emathanjeni.
• Umhlaza wolusu - ingakumbi uhlobo olubizwa ngokuba yi-squamous cell cancer.

Kuqhelekile ukuba noloyiko xa usiva ngezi cancer. Nangona kunjalo, ukuhlolwa rhoqo njengoko kucetyisiwe ngugqirha wakho kunokunceda ukuzibona kwangethuba. Oku kwandisa amathuba onyango.

Ngaba kukho amanye amagama eBloom Syndrome?

Ewe, ngamanye amaxesha oogqirha bayibiza le meko ngokuthi "i-Bloom-Torre-Macachacek syndrome." Elinye igama yi-"congenital telangiectatic erythema." Nangona eli gama lisenokuvakala liyinkimbinkimbi, igama elisetyenziswa kakhulu yiBloom Syndrome.

Yintoni unobangela wale meko? Makhe sijonge ngokusondeleyo.

Njengoko besitshilo ngaphambili, iBloom Syndrome sisifo semfuza. Oko kukuthi, sibangelwa sisiphene kwiijini esizifumana kubazali bethu. Iseli nganye yethu inento ebizwa ngokuba zii-chromosomes. Ezi chromosomes zezona zigcina ulwazi lwethu lwemfuza.

I-Bloom Syndrome ichaphazeleka ngokukodwa yi -gene ebizwa ngokuba yi-BLM. Le gene inceda ekulungiseni i-DNA yethu nasekugcineni uzinzo lwee-chromosomes. Khawuthelekelele, ukuba le gene ye-BLM ayisebenzi kakuhle, kukho ithuba elikhulu lokuba iimpazamo ze-DNA zenzeke xa iiseli zethu zahlukana. Leyo yeyona nto ibangela le meko.

Ukuba bobabini abazali banotshintsho kwi-BLM gene (oko kukuthi, bangabathwali bale meko), ngoko ke xa benomntwana, kukho ithuba eli-1 kwabane lokuba umntwana uza kuzuza le meko rhoqo xa ekhulelwe . Oku kuthetha ukuba iBloom Syndrome yenzeka kuphela ukuba umntwana ufumana zombini iikopi ze-BLM gene eziguquliweyo kumama nakutata.

Zithini iimpawu zeBloom Syndrome?

Le meko inokubangela iimpawu ezahlukeneyo. Ayingomntu wonke oza kuzibona zonke. Ezinye iimpawu zisenokuba zingabonakali kangako, ngelixa ezinye zibonakala ngakumbi.

Iimpawu eziqhelekileyo ezibonwayo zezi:

• Naziphi na iingxaki ebusweni, kumhlathi, nasezindlebeni: umzekelo, ubuso obumxinwa, iindlebe ezinkulu.
• Utshintsho kwinkqubo ye-endocrine nakwinkqubo yomzimba yokuzikhusela: Utshintsho ekusebenzeni kwamahomoni kunye nokuxhathisa izifo.
• Ukulibaziseka kokukhula kunye nengqondo: Abanye abantwana banokuba neengxaki zokufunda.
• Ukuziva ushushu kakhulu elangeni: Nokuba ixesha elifutshane lokuchatshazelwa lilanga linokubangela ukuba ulusu lutshise luze lube bomvu.
• Usulelo oluqhelekileyo: Ingakumbi usulelo lwendlebe kunye nosulelo lwemiphunga (njenge-pneumonia) lunokwenzeka rhoqo.
• Iingxaki zokukhula ngexesha lokukhulelwa okanye emva kokuzalwa: Umntwana usenokulahlekelwa bubunzima nokuphakama kokubili esibelekweni nasemva kokuzalwa.
• Iingxaki zesikhumba: Amabala abomvu, amaqhuqhuva, kunye namaqhuqhuva, ingakumbi xa evezwa lilanga. Ngamanye amaxesha ezi zinto zinokusasazeka ezidleleni nasempumlweni ngendlela efana nebhabhathane.

Oogqirha bayixilonga njani le meko?

Ngamanye amaxesha, le meko inokubonwa ngelixa umntwana esesesibelekweni. Umzekelo, ukuba iskeni ibonisa ukuba umntwana akakhuli njengoko bekulindelwe, oogqirha banokucebisa uvavanyo olukhethekileyo, olufana ne-genetic amniocentesis, olujonga iijini zomntwana.

Okanye, emva kokuba umntwana ezelwe, wena okanye ugqirha wabantwana obona umntwana unokubona ezinye zezi mpawu. Kulapho ke kunokucetyiswa khona uvavanyo olongezelelweyo.

Zithini iimvavanyo zokuxilonga?

Oogqirha baza kuqala benze uvavanyo lomzimba lomntwana. Emva koko, banokwenza uvavanyo lwegazi ukujonga ulwakhiwo lweechromosomes. Oku kunokuqinisekisa ukuba kukho isiphene kwi-BLM gene.

Ziziphi iindlela zonyango lweBloom Syndrome?

Inyaniso kukuba, akukho nyango luthile olunokunyanga ngokupheleleyo iBloom Syndrome. Unyango lwangoku lujolise kakhulu ekulawuleni iimpawu kunye nokukhusela kwiingxaki ezinokubakho.

• Iingxaki zesondlo kubantwana abancinci: Iintsana ezinale meko zisenokuphelelwa ngumdla wokutya kunye nokwehla kobunzima bomzimba. Ngenxa yoko, oogqirha banokucebisa ulwelo olongezelelweyo kunye nokutya okunesondlo ukuthintela ukuphelelwa ngamanzi emzimbeni kunye nokungondleki kakuhle.
• Ukuhlolwa komhlaza: Njengoko besitshilo ngaphambili, ngenxa yomngcipheko ophezulu womhlaza, oogqirha bacebisa ukuvavanywa komhlaza rhoqo . Oku kunokunceda ekufumaneni umhlaza kwangethuba ukuba uyavela.
• Ii-antibiotics zosulelo:Ngenxa yokuba usulelo luhlala lusenzeka, kunokufuneka amayeza okubulala iintsholongwane ukuze lunyangwe.

Ngaba ikho indlela yokuthintela le meko?

I-Bloom Syndrome yimeko yemfuza, oko kuthetha ukuba ifunyanwa njengelifa, ngoko ke akukho nto sinokuyenza ukuyithintela ukuba ingenzeki. Asinakuyithintela inguqu yemfuza.

Nangona kunjalo, ukuba wena neqabane lakho niceba ukuba nomntwana, iingcebiso ngemfuza kunye novavanyo lwemfuza zingenziwa. Oku kunokukunceda ufumanise ukuba nobabini ninotshintsho lwemfuza lwe-BLM oluhambelana neBloom Syndrome, oko kuthetha ukuba ningabathwali bale meko. Oku kunokukunceda uqonde umngcipheko wokudlulisela le meko kumntwana ozayo.

Yintoni endimele ndiyilindele ukuba mna okanye umntwana wam une-Bloom Syndrome?

Ukuba une-Bloom Syndrome, usengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza, ngesiqhelo xa usemncinci. Enyanisweni, unobangela ophambili wokufa kwabantu abanale meko ziingxaki ezibangelwa ngumhlaza. Nangona kunjalo, xa umhlaza ufunyanwa kwangoko, kokukhona amathuba onyango oluphumelelayo esanda. Ke ngoko, kubalulekile ukuba uhlolwe rhoqo umhlaza njengoko kucetyisiwe ngugqirha wakho.

Abantu abane-Bloom Syndrome babuthathaka kakhulu kwi-ionizing radiation. Le radiation ingonakalisa iiseli. Ke ngoko, ugqirha wakho unokukucebisa ukuba uphephe okanye unciphise ukuvezwa kwakho kwezi ntlobo ze-radiation:

• Iskeni ye-CT
• I-X-reyi

Ukuba unomhlaza, iBloom Syndrome inokuchaphazela unyango lwakho lomhlaza. Oogqirha badla ngokucebisa abantu abanale meko ukuba baphephe unyango lwemitha.

Ngaba iBloom Syndrome inganyangeka?

Ngelishwa, akukho nyango lweBloom Syndrome. Ukuba wena okanye umntwana wakho unesi sifo, sisifo esihlala ubomi bonke. Nangona kunjalo, oku akuthethi ukuba ufanele ulahle ithemba. Abantu abaninzi baphila nale meko de babe ngabantu abadala. Eyona nto ibalulekileyo kukulawula iimpawu nokwazi iingxaki ezinokubakho.

Ndingazinyamekela njani mna okanye umntwana wam one-Bloom Syndrome?

Eyona nto ibalulekileyo kukulandela imiyalelo kagqirha wakho. Iya kukunceda ugcine wena nomntwana wakho nisempilweni kangangoko.

Ngokukodwa, khumbula ukufaka isithambisi sokukhusela ilanga, unxibe impahla egquma ulusu lwakho, kwaye unxibe umnqwazi nanini na xa uphuma elangeni. Oku kunokunceda ukunciphisa umonakalo owenziwe lilanga kulusu lwakho.

Ukuhlamba izandla zakho rhoqo nokuhlala kude neendawo ezinabantu abaninzi kangangoko kunokwenzeka kunokukunceda ekukhuselekeni kwiintsholongwane. Kwakhona, ukutya ukutya okunesondlo kunye nokulala ngokwaneleyo kubaluleke kakhulu kwimpilo yakho.

Okokugqibela, umyalezo oya ekhaya

I-Bloom Syndrome yimeko engaqhelekanga, yemfuza enokubangela iingxaki zokukhula, iimpawu zobuso, amaqhakuva eluswini, kunye nosulelo oluqhelekileyo. Okubaluleke kakhulu, abantu abanale meko basengozini enkulu yokuhlaselwa ziintlobo ezahlukeneyo zomhlaza.

Ukuba unemibuzo engaphezulu malunga noku, okanye ukuba ucinga ukuba umntwana wakho unezinye zezi mpawu, qiniseka ukuba ubona ugqirha ukuze akunike iingcebiso. Thetha nogqirha wakho malunga nokufumana uvavanyo lomhlaza rhoqo kunye nento onokuyenza ukuze uhlale usempilweni. Khumbula, ukubhaqwa kwangoko kunye nolawulo olufanelekileyo zezona ndlela zilungileyo zokuphila kakuhle nale meko. Ungakhathazeki, oogqirha balapha ukukunceda.

I- Bloom syndrome, isifo semfuza, i-BLM gene, umngcipheko womhlaza, ukungakwazi ukukhanya kwelanga, ukulibaziseka kokukhula, usulelo oluqhelekileyo