Ngaba umntwana wakho unamaqhuma emathanjeni akhe? Masifunde nge-HMO (i-Hereditary Multiple Osteochondromas)!

Usenokuba uqaphele amaqhuma amancinci emzimbeni womntwana wakho, ingakumbi emalungeni akhe. Ngamanye amaxesha la maqhuma anokuba buhlungu okanye angabi buhlungu. Ungakhathazeki , ayizizo zonke amaqhuma ayingozi. Nangona kunjalo, namhlanje siza kuthetha ngemeko ebonisa ezi mpawu, engaqhelekanga kakhulu kodwa ibaluleke kakhulu kuthi sonke ukuba siyiqaphele. Le meko ibizwa ngokuba yi-HMO, emele i-'Heriditary Multiple Osteochondromas'.

Yintoni kanye kanye i-HMO (i-Hereditary Multiple Osteochondromas)?

Ngamafutshane, i-HMO yimeko yemfuza . Ibangelwa lutshintsho oluncinci, okanye utshintsho, kwiijini zethu, okanye isicwangciso esisisiseko esimisela indlela imizimba yethu ekhula ngayo. Olu tshintsho lubangela ukuba amanye amathambo ethu avelise iithumba ezingenabungozi, okanye ezingenabungozi , esizibiza ngokuba yi-osteochondroma ngokwezonyango, kwaye ziqala ukukhula ngamanani amakhulu. Ezi azingomhlaza ngokwenene, ngoko ke akukho nto ibalulekileyo yokukhathazeka ngayo.

Ngaba kukho amanye amagama ale HMO?

Ewe, ungadibana namanye amagama amaninzi xa ukhangela le meko. Oogqirha ngamanye amaxesha basebenzisa la magama:

• `I-Hereditary Multiple Osteochondromas (HMO)` (le yeyona isetyenziswa kakhulu ngoku)
• `Ii-Multiple Heritage Exostoses` (ngaphambili eli yayiligama eliqhelekileyo)
• `I-Diaphyseal aclasis`

Nokuba usebenzisa liphi igama, yimeko efanayo yempilo. Ngoko ke ukuba ubona elinye lala magama, musa ukudideka, kulungile?

Ngoko ke yintoni le osteochondroma?

I-Osteochondroma, njengoko benditshilo ngaphambili, ayisiyomhlaza, ngamanye amazwi, yi-non-benign, i-bone tumor . Khawuthelekelele, la mathumba akheka xa iiseli emathanjeni ethu, endaweni yokukhula ngokuqhelekileyo, ziqala ukukhula ngendlela eyahlukileyo kancinci, engaqhelekanga.

Ezi thumba zihlala zikhula phezu komphezulu othe tyaba wethambo okanye kwizicubu ezithambileyo ezibizwa ngokuba yi-cartilage eziphelweni zamathambo, ezibizwa ngokuba zii-growth plates, ezinceda abantwana bakhule kwaye amathambo abo akhule. Ezi thumba zikwagqunywe sisigqubuthelo se-cartilage. Into ebalulekileyo kukuba azingomhlaza , ngoko azisasazeki emzimbeni wonke. Ayisosiqabu esikhulu eso?

Ngubani onokufumana le meko? Ixhaphake kangakanani?

Oogqirha badla ngokuxilonga i-HMO kwasebuntwaneni okanye ebusheni . Inokubachaphazela abafana namantombazana ngokulinganayo.

Nangona kunjalo, i-HMO ayisiyongxaki ixhaphakileyo . Xa sithetha nje, ichaphazela umntu omnye kwabangama-50,000. Ngoko ke akumangalisi ukuba awukayiva loo nto.

Yintoni ebangela i-HMO? Ngaba kukho unxibelelwano lwemfuza?

Ewe, i-HMO sisifo esibangelwa lufuzo . Oko kuthetha ukuba inento yokwenza nofuzo lwethu.

Amashumi alithoba ekhulwini (90%) abantu abane-HMO bayayihlakulela ukuba kukho utshintsho, okanye utshintsho oluthile , kwiijini ezibizwa ngokuba yi-`EXT1` okanye i-`EXT2` (ezi jini ziyimiyalelo kwi-`DNA` yethu exelela umzimba wethu indlela yokwenza iiproteni ezibalulekileyo). Ngelishwa, unobangela wejini ochaphazela ezinye iipesenti ezili-10 (10%) awukafunyanwa.

Amaxesha amaninzi , olu tshintsho lwemfuza ludluliselwa kubantwana luvela kubazali . Oku kuthetha ukuba ukuba umama okanye utata unenguqu, nomntwana unokuyifumana. Nangona kunjalo, abanye abantu abane-HMO abanabazali babo abanoguquko. Oku kuthetha ukuba nokuba akukho mntu kusapho une-HMO, ngamanye amaxesha umntu unokuba nale meko okokuqala. Oku kubizwa ngokuba yinguqu entsha.

Zithini iimpawu ze-HMO? Zeziphi izinto ozibonayo?

I-HMO inokubangela ukuba kubekho amaqhuma abuhlungu kwithambo elinye okanye ngaphezulu. La maqhuma abizwa ngokuba yi-osteochondroma. Ukongeza, unokufumana iimpawu ezifana nezi:

• Ukukhula okungaqhelekanga kwamathambo , kuquka notshintsho emathanjeni engalo. Ngamanye amaxesha ingalo ingabonakala inde kancinci.
• Ukuqhekeka kwamathambo rhoqo kunye nokuqhekeka kwepleyiti yokukhula.
• Umahluko phakathi kobude bemilenze. Cinga ngomlenze omnye omfutshane kancinci kunomnye, okanye ingalo enye imfutshane kunenye.
• Ukungakwazi ukuhambisa amalungu kakuhle, ukuziva ukuqina kwamalungu.
• Imithambo-luvo exineneyo inokubangelwa kukuqhekeka kwamathambo, okunokubangela ukungaziva mnandi kunye nentlungu.
• I-osteoarthritis yangaphambi kwexesha , oko kuthetha ukuguguleka kwamalungu ngaphambi kwexesha eselula.
• Iingxaki zeqakala okanye idolo, iintlungu xa uhamba.
• Intlungu yexesha elifutshane nelide . Le ntlungu ngamanye amaxesha inokuba nzima ukuyinyamezela.
• Ubude obufutshane .

Abanye abantwana bafumana iintlungu ezingakumbi xa ezi thumba zikhula kufutshane nemithambo yegazi okanye imithambo-luvo. Nangona kunjalo, ngamanye amaxesha ezi thumba zinokuba buhlungu kwaye zivele nje njengeqhuma.

Kubalulekile: Ukuba ubona naziphi na iziqwenga ezinje emzimbeni womntwana wakho, okanye ukuba umntwana wakho uhlala ekhalaza ngentlungu yamathambo, nceda ubone ugqirha.

Ingaba le meko ye-HMO isuka komnye umntu iye komnye?

Hayi, i-HMO ayisosifo esosulelayo . Oko kuthetha ukuba ayisasazeki ukusuka komnye umntu ukuya komnye ngokuchukumisa okanye ukuba kufutshane, njengomkhuhlane. Yimeko yemfuza ngokupheleleyo.

Nangona kunjalo, ukuba une-HMO, kukho amathuba angama-50% okuba uza kudlulisela utshintsho lwezakhi zofuzo olubangela esi sifo kumntwana wakho.Ewe. Oko kuthetha ukuba kukho amathuba angama-50% ekukhulelweni ngakunye.

Oogqirha bayibona njani imeko ye-HMO?

Wena okanye ugqirha womntwana wakho nisenokubona iqhuma elisethanjeni okanye elikufutshane nalo, okanye ezinye iimpawu ze-HMO (umz., ukudumba okuncinci, intlungu). Oogqirha baza kuqala:

1. Ukubuza ngononophelo ngembali yempilo yosapho . Ukujonga ukuba kukho nabani na kusapho okhe waba nale meko.

2. Uvavanyo olupheleleyo lomzimba . Ukujonga amaqhuma, ubungakanani bawo, kunye nentshukumo yamalungu.

Luhlobo luni lovavanyo lwezonyango oluqhutywayo?

Emva kovavanyo lomzimba, oogqirha badla ngokucebisa uvavanyo lwemifanekiso ukuqinisekisa imeko ye-HMO.

• Inyathelo lokuqala lidla ngokuba yi-X-ray . I-X-ray ingabonisa ngokucacileyo ezi thumba ze-osteochondroma.
• Ngamanye amaxesha, ukuze ufunde ngakumbi ngesi sifo, okanye ukuze ubone ukuba siyayichaphazela na into efana nemithambo-luvo, kunokufuneka wenze olu vavanyo:
• `Iskeni ye-CT`
• `I-MRI` (I-M.R.I.)

Isekelwe kulwazi olufunyenwe kwezi mvavanyo apho oogqirha bagqiba khona ukuba ngaba kufuneka babe ne-HMO okanye hayi.

Inyangwa njani i-HMO? Ziziphi iindlela onokuzisebenzisa?

Unyango lwe-HMO alufani kuwo wonke umntu. Luxhomekeke kwiimpawu zakho, inani leethumba, indawo ezikuyo, kunye nemiphumo yazo . Oogqirha banokucebisa unyango olufana nolu:

• Ukujongwa kwethumba/ukulinda ngononophelo: Ngamanye amaxesha, ukuba ithumba alibangeli ngxaki okanye iintlungu ezinkulu, oogqirha banokucebisa ukuba ulinde ixesha elithile ukuze babone ukuba ithumba liyakhula okanye libangela iingxaki. Oku kubizwa ngokuba "kukulinda ngononophelo."
• Ulawulo lweentlungu: Ukuba kukho iintlungu, amayeza (afana neparacetamol okanye ibuprofen) anokunikwa ukulawula intlungu. Ngamanye amaxesha kufuneka iintlungu ezinamandla.
• Unyango lomzimba: Ingcali yonyango lomzimba ifundisa imithambo yokunceda ukugcina ukuhamba kwamalungu kunye nokuqinisa izihlunu. Oku kunokunceda ekunciphiseni iintlungu.
• Utyando:
• Utyando lokususa ithumba elinye okanye ngaphezulu: Ukuba ithumba libangela iintlungu ezinganyamezelekiyo, licinezela umthambo, liphazamisana nokuhamba kwelungu, okanye ukuba kukho ukurhaneleka kokuba ithumba lisenokuba ngumhlaza, ithumba linokususwa ngotyando.
• Utyando lokwandisa okanye ukolula amalungu angakhuli kakuhle: Ukuba ingalo okanye umlenze ufutshane okanye woluliwe ngenxa ye-HMO, kukho utyando olukhethekileyo lokulungisa loo malungu.

Ngaba iingxaki zingavela ngenxa yonyango?

Abanye abantu abenza utyando lokususa iithumba ze-osteochondroma banokufumana amanxeba.Njengakwezinye iintlobo zotyando, kukho umngcipheko omncinci wokosuleleka okanye umonakalo wemithambo-luvo. Nangona kunjalo, oogqirha benza konke okusemandleni abo ukunciphisa ezi ngozi.

Ngaba ikho indlela yokuphepha imeko ye-HMO?

Enyanisweni, akukho nto unokuyenza ukuthintela i-HMO kuba yimeko yemfuza.

Nangona kunjalo, ukuba uyazi ukuba kukho umntu kusapho lwakho one-HMO, kwaye ulindele umntwana, ungacinga ngovavanyo lwemfuza ngaphambi kokukhulelwa ukuze ufumane ukuba umntwana wakho uzuze esi sifo njengelifa na. Umzekelo:

• ``Isampuli yeChorionic Villus (CVS)''
• `I-amniocentesis yemfuza`

Olu vavanyo lunokunceda ekuqinisekiseni ukuba umntwana osandul’ ukuzalwa une-HMO kwangaphambili. Kwezinye iimeko, ukuba usebenzisa iindlela zokufakelwa amadlozi ngendlela yokwenziwa (ezifana ne-IVF), uvavanyo lwemfuza ngaphambi kokufakelwa kwamadlozi lunokuba lolunye ukhetho. Thetha nogqirha wakho ngale nto ukuze ufunde okungakumbi.

Ndingazi njani ukuba umntwana wam usemngciphekweni wokufumana i-HMO?

Ukuba wena, umyeni/umfazi wakho, okanye ilungu losapho olusondeleyo lune-HMO, kubaluleke kakhulu ukwazisa ugqirha wakho ngayo, njengoko nomntwana esenokuba sengozini.

Ukuba akukho mlando wosapho, umngcipheko wokuba umntwana abe ne-HMO uphantsi kakhulu. Nangona kunjalo, njengoko benditshilo ngaphambili, inokubangelwa kukuguquka kwezakhi zofuzo ezintsha, ngoko ke akunakwenzeka ngokupheleleyo.

Yintoni endinokuyilindela ukuba umntwana wam une-HMO?

Ukuba umntwana wakho une-HMO, imeko inokwahluka ukusuka kumntwana ukuya komnye. Abanye abantwana banokuba neethumba ezimbalwa ze-osteochondroma, okanye banokuba neethumba ezininzi.

Iindaba ezimnandi zezokuba , kwiimeko ezininzi, emva kokuba iipleyiti zokukhula komntwana zivaliwe, oko kuthetha ukuba ubude bomntwana kunye nobude bamathambo akhe abuyi kukhula, la mathumba awasayi kukhula.

Kodwa kwabanye abantu, nokuba ii-growth plates zivaliwe, zinokuphinda zivele. Kunqabile kancinci.

I-HMO inokubangela nezinye iimpawu. Abanye abantwana kunye nabantu abadala banokufumana ukudinwa , iintlungu, kunye nobunzima bokuhambisa imizimba yabo okanye ukwenza imisebenzi.

Ayinguye wonke umntu one-HMO oya kufuna unyango. Kodwa abanye banokufuna utyando okanye unyango lomzimba. Oogqirha banokucebisa amayeza okanye ezinye iindlela zonyango ukunceda ukulawula iintlungu.

Le meko iza kuhlala ixesha elingakanani?

I-HMO yimeko ehlala ubomi bonke . Oku kuthetha ukuba ayinakunyangwa ngokupheleleyo. Nangona kunjalo, uninzi lwabantu abanezi osteochondromas zingenabungozi banobude bobomi obuqhelekileyo .Kunokwenzeka ukuba uphile. Eyona nto ibalulekileyo kukulawula iimpawu, ufumane unyango olufunekayo, kwaye ugcine umgangatho wobomi ulungile. Soloko uthetha nogqirha wakho malunga neendlela zonyango eziya kunceda umntwana wakho ahlale esempilweni kwaye onwabile.

Ngaba iithumba ze-osteochondroma zinokuba ngumhlaza? Yile nto abantu abaninzi bayoyikayo.

Lo ngumbuzo obaluleke kakhulu. Ewe, kunqabile kakhulu , oko kukuthi, kunqabile kakhulu , ii-osteochondroma tumors kubantu abane-HMO zinokuba yingozi. Phakathi kwe-2% kunye ne-5% yabantu abane-HMO (oko kukuthi, phakathi kwe-2 kunye ne-5 kwi-100) bahlakulela olu hlobo lomhlaza. Xa oku kusenzeka, ezi tumors zingenabungozi zijika zibe ngumhlaza wamathambo obizwa ngokuba yi-'chondrosarcoma' okanye 'osteosarcoma'.

Ugqirha wakho unokukrokrela ukuba i-osteochondroma inokuba ngumhlaza ukuba:

• Ukuba umntwana wakho uvelisa iinduli ezintsha emva kokufikisa , okanye ukuba induli ekhoyo ngequbuliso iqala ukukhula ngokukhawuleza.
• Ukuba i-osteochondroma eyayingenabuhlungu ngaphambili iba buhlungu ngequbuliso , okanye ukuba intlungu ekhoyo iba qatha kakhulu.
• Ukuba isiciko se-cartilage esiphezu kwethumba singaphezulu kweesentimitha ezi-2 ubukhulu (oku kubonakala nge-MRI scan).

Iithumba ezininzi ezinomhlaza zinokususwa ngotyando. Ngokuxhomekeke kwinqanaba lomhlaza, nokuba usasazeke kangakanani (usususwe ngokupheleleyo), umntwana wakho usenokungadingi unyango olongezelelweyo (olufana ne-chemotherapy okanye i-radiotherapy). Yiyo loo nto kubalulekile ukuba uhlolwe rhoqo.

Ungamnyamekela njani umntwana one-HMO? Yintoni esinokuyenza njengabazali?

Ukuba umntwana wakho une-HMO, kubaluleke kakhulu ukuba unike ingqalelo kwiimpawu zomntwana wakho .

• Ukuba umntwana wakho ufumana naziphi na iimpawu ezintsha , ingakumbi utshintsho olukhawulezileyo kubukhulu beqhuma, iintlungu ezikhulayo, okanye ukungaziva mnandi, yazisa ugqirha wakho ngoko nangoko.
• Landela imiyalelo kagqirha ngokuchanekileyo (indlela yokusela amayeza akho, indlela yokuzilolonga, kunye nexesha lokuza kuvavanyo).
• Ukuba umntwana wakho unesihlungu, musa ukumvumela ukuba anyamezele. Thetha nogqirha wakho uze ufumane iindlela zokulawula intlungu.
• Cinga nangempilo yengqondo yomntwana wakho. Ukuphila kwimeko efana nale ngamanye amaxesha kunokuba ngumceli mngeni kumntwana. Thetha nomntwana wakho, mxhase.

Ndifanele ndifune nini ingcebiso kagqirha ukuba umntwana wam une-HMO? Zithini iimeko ezingxamisekileyo?

Ukuba umntwana wakho ufunyaniswe ene-HMO, funa ingcebiso kagqirha ngoko nangoko kwezi meko zilandelayo:

• Ukuba umntwana uvelisa amathumba amatsha .
• Ukuba uziva ngathi iqhuma likhula ngequbuliso .
• Ukuba intlungu iyanda ngequbuliso okanye ukuba kuvela intlungu entsha, enzima (ingakumbi emva kokufikisa).
• Apho kukho iqhubuUkuba ulusu lubomvu, ludumbile, kwaye luziva lufudumele (oku kungaba luphawu losulelo).
• Ukuba ufumana ukungaziva okanye ubuthathaka engalweni okanye emlenzeni.

Musa ukuzityeshela ezi mpawu. Ukubona ugqirha kwangethuba kunokuthintela iingxaki ezinkulu ekukhuleni.

Ngaba abantwana abane-HMO banokuba ne-autism?

Abanye abazali nabo bayabuza ngale nto. Iingcali zonyango zibike amatyala amaninzi abantwana abane-HMO kunye nemeko ebizwa ngokuba yi-'autism spectrum disorder'. Nangona kunjalo, abazi ngokuqinisekileyo ukuba kukho unxibelelwano olucacileyo noluthe ngqo phakathi kwezi meko zimbini. Abaphandi basafunda ukuba utshintsho lwezakhi zofuzo (`EXT1`, `EXT2` genes) ezibangela i-HMO nazo zinegalelo ekuphuhlisweni kwe-autism. Okwangoku, akukho sigqibo siqinileyo esifikelelweyo koku.

Okokugqibela, ezona zinto zibalulekileyo ekufuneka uzikhumbule

I-HMO, emele i-'Hereditary Multiple Osteochondromas' (ngamanye amaxesha ibizwa ngokuba yi-'Multiple Hereditary Exostoses'), yimeko yemfuza apho iithumba ezingengobungozi (i-osteochondromas) zenzeka khona emathanjeni nakwiindawo zokukhula zabantwana nabantu abadala abancinci.

Nangona i-HMO yimeko ehlala ubomi bonke, inokubangela iintlungu kunye notshintsho lwamathambo. Nangona kunjalo, unyango olufana notyando, unyango lomzimba, kunye nolawulo lweentlungu lunokunciphisa kakhulu iimpawu, lulungise ukukhubazeka kwamathambo, kwaye lukuncede uphile ubomi obuhle.

Eyona nto ibalulekileyo kukungabi naxhala okanye ukoyika ukuba umntwana wakho unezi mpawu, kodwa kukubona ugqirha ofanelekileyo ngokukhawuleza. Thetha ngokukhululekileyo nogqirha uze ugqibe ukuba loluphi uvavanyo umntwana wakho aludingayo kunye nonyango olufanelekileyo. Inkxaso yakho kunye nokuqonda kwakho kuya kuba ngamandla amakhulu kumntwana wakho ukuze aphile ngempumelelo nale meko.

IiOsteochondroma ezininzi ezizuzwe njengelifa , iiExostoses ezininzi ezizuzwe njengelifa, iiOsteochondroma, iiTumors zamathambo, izifo zofuzo, izifo zabantwana, iintlungu zamathambo