Ingabe ingane yakho inamaqhubu emathanjeni ayo? Ake sifunde nge-HMO (Heroditary Multiple Osteochondromas)!

Kungenzeka ukuthi uke wabona amaqhubu amancane emzimbeni wengane yakho, ikakhulukazi ezithweni zayo. Ngezinye izikhathi lokhu kungaba buhlungu noma kungabi buhlungu. Ungakhathazeki , akuwona wonke amaqhubu ayingozi. Kodwa-ke, namuhla sizokhuluma ngesimo esibonisa lezi zimpawu, esingavamile kakhulu kodwa esibaluleke kakhulu kithi sonke ukuba siqaphele. Lesi simo sibizwa ngokuthi i-HMO, okusho ukuthi 'i-Hereditary Multiple Osteochondromas'.

Iyini ngempela i-HMO (i-Hereditary Multiple Osteochondromas)?

Kalula nje, i-HMO yisimo sofuzo . Sibangelwa ushintsho oluncane, noma ukuguquka kwezakhi zofuzo zethu, noma uhlelo oluyisisekelo olunquma ukuthi imizimba yethu ikhula kanjani. Lolu shintsho lubangela ukuthi amanye amathambo ethu akhule amathumba angenabungozi, noma angenangozi , esiwabiza ngezokwelapha ngokuthi i-osteochondroma , futhi aqala ukukhula ngobuningi. Lawa empeleni akuwona umdlavuza, ngakho-ke akukho okufanele sikhathazeke ngakho.

Ingabe akhona amanye amagama ale HMO?

Yebo, ungase uhlangane namanye amagama amaningana uma usesha lesi simo. Odokotela ngezinye izikhathi basebenzisa la magama:

• `I-Hereditary Multiple Osteochondromas (HMO)` (lena isetshenziswa kakhulu manje)
• `Ama-Exostoses amaningi e-Heroditary` (ngaphambili leli kwakuyigama elivame kakhulu)
• `I-Diaphyseal aclasis`

Kungakhathaliseki ukuthi usebenzisa liphi igama, kuyisimo esifanayo sezokwelapha. Ngakho-ke uma ubona elinye lala magama, ungadideki, kulungile?

Ngakho-ke iyini le-osteochondroma?

I-Osteochondroma, njengoba ngishilo ekuqaleni, ayiyona isifo somdlavuza, ngamanye amazwi, esingenabungozi, esithinta amathambo . Cabanga nje, la mathumba akheka lapho amangqamuzana emathanjeni ethu, esikhundleni sokukhula ngendlela evamile, eqala ukukhula ngendlela ehlukile kancane, engajwayelekile.

Lezi zimila zivame ukukhula endaweni eyisicaba yethambo noma ezicutshini eziguquguqukayo ezibizwa ngokuthi i-cartilage ekugcineni kwamathambo, okuthiwa ama-growth plate, ezisiza izingane zikhule futhi amathambo azo akhule. Lezi zimila nazo zimbozwe ngesembozo se-cartilage. Into ebalulekile ukuthi azinawo umdlavuza , ngakho azisabalali emzimbeni wonke. Akuyona yini impumuzo enkulu lokho?

Ubani ongaba nalesi simo? Sivame kangakanani?

Odokotela bavame ukuxilonga i-HMO ebuntwaneni noma ebusheni . Ingathinta abafana namantombazane ngokulinganayo.

Kodwa-ke, i-HMO ayisona isimo esivamile kakhulu . Uma sikhuluma nje, ithinta cishe umuntu oyedwa kwabangu-50,000. Ngakho-ke akumangazi uma ungakaze uzwe ngayo.

Yini ebangela i-HMO? Ingabe kukhona ukuxhumana kwezakhi zofuzo?

Yebo, i-HMO ngokuyinhloko isifo esibangelwa izakhi zofuzo . Lokho kusho ukuthi ihlobene nezakhi zofuzo zethu.

Amaphesenti angamashumi ayisishiyagalolunye (90%) abantu abane-HMO bayayithuthukisa uma kukhona ushintsho, noma ukuguquka kwezakhi zofuzo, olubizwa ngokuthi `EXT1` noma `EXT2` (lezi zakhi zofuzo ziyimiyalelo ku-`DNA` yethu etshela umzimba wethu ukuthi ungawenza kanjani amaprotheni athile abalulekile). Ngeshwa, imbangela eqondile yezakhi zofuzo ethinta amanye amaphesenti ayi-10 (10%) ayikatholakali.

Ngokuvamile , lokhu kuguquka kwezakhi zofuzo kudluliselwa kusuka kubazali kuya ezinganeni . Lokhu kusho ukuthi uma umama noma ubaba enalokhu kuguquka, ingane nayo ingakuthola. Kodwa-ke, abanye abantu abane-HMO abanabo abazali babo abanalokhu kuguquka. Lokhu kusho ukuthi noma kungekho muntu emndenini one-HMO, ngezinye izikhathi othile angaba nalesi simo okokuqala. Lokhu kubizwa ngokuthi ukuguquka okusha.

Ziyini izimpawu ze-HMO? Yiziphi izinhlobo zezinto ozibonayo?

I-HMO ingabangela ukwakheka kwamaqhubu abuhlungu ethanjeni elilodwa noma ngaphezulu. Lawa maqhubu abizwa ngokuthi i-osteochondroma. Ngaphezu kwalokho, ungase ube nezimpawu ezifana nalezi:

• Ukukhula okungavamile kwamathambo , okuhlanganisa nokushintsha kwamathambo engalo. Ngezinye izikhathi ingalo ingase ibonakale ide kancane.
• Ukuphuka kwamathambo njalo kanye nokuqhekeka kwe-growth plate.
• Ukungafani kobude bezitho zomzimba. Cabanga ngomlenze owodwa omfushane kancane kunomunye, noma ingalo eyodwa imfushane kunomunye.
• Ukungakwazi ukuhambisa amalunga kahle, umuzwa wokuqina kwamalunga.
• Imizwa ecijile ingabangelwa ukuqhekeka kwamathambo, okungabangela ukungazweli nobuhlungu.
• I-osteoarthritis yangaphambi kwesikhathi , okusho ukuguguleka kwamalunga ngaphambi kwesikhathi esemncane.
• Izinkinga zamaqakala noma amadolo, ubuhlungu lapho uhamba.
• Ubuhlungu besikhathi esifushane nobesikhathi eside . Lobuhlungu ngezinye izikhathi bungaba nzima ukububekezelela.
• Ubude obufushane .

Ezinye izingane zizwa ubuhlungu obukhulu lapho lezi zimila zikhula eduze kwemithambo yegazi noma imizwa. Kodwa-ke, ngezinye izikhathi lezi zimila zingaba buhlungu futhi zivele nje njengeqhubu.

Okubalulekile: Uma ubona noma yiziphi izigaxa ezinjengalezi emzimbeni wengane yakho, noma uma ingane yakho ivame ukukhala ngobuhlungu bethambo, sicela ubone udokotela.

Ingabe lesi simo se-HMO sithathelwana kusuka komunye umuntu kuya komunye?

Cha, i-HMO ayisona isifo esithelelanayo . Lokho kusho ukuthi ayisabalali isuka komunye umuntu iye komunye ngokuthinta noma ukuba seduze, njengomkhuhlane. Kuyisifo esibangelwa ufuzo ngokuphelele.

Kodwa-ke, uma une-HMO, kunethuba elingama-50% lokuthi uzodlulisela ukuguquka kwezakhi zofuzo okubangela lesi sifo enganeni yakho.Yebo. Lokho kusho ukuthi kunethuba elingu-50% kukho konke ukukhulelwa.

Odokotela basibona kanjani isimo se-HMO?

Wena noma udokotela wengane yakho ningase nibone iqhubu ethanjeni noma eduze kwalo, noma ezinye izimpawu ze-HMO (isb., ukuvuvukala okuncane, ubuhlungu). Odokotela bazoqala:

1. Ukubuza ngokucophelela ngomlando wezokwelapha womndeni . Ukuhlola ukuthi ukhona yini emndenini oke waba nalesi simo.

2. Ukuhlolwa okuphelele ngokomzimba . Ukuhlola amaqhubu, usayizi wawo, kanye nokunyakaza kwamalunga.

Hlobo luni lokuhlolwa kwezokwelapha okwenziwayo?

Ngemva kokuhlolwa ngokomzimba, odokotela bavame ukuncoma ukuhlolwa kwezithombe ukuqinisekisa isimo se-HMO.

• Isinyathelo sokuqala ngokuvamile yi-X-ray . I-X-ray ingabonisa ngokucacile lezi zimila ze-osteochondroma.
• Ngezinye izikhathi, ukuze ufunde kabanzi ngesimila, noma ukuze ubone ukuthi siyathinta yini izinto ezifana nezinzwa, kungadingeka futhi wenze lezi zivivinyo:
• `I-CT scan`
• `I-MRI` (I-M.R.I.)

Kusekelwe olwazini olutholwe kulezi zivivinyo lapho odokotela benquma ukuthi kufanele babe ne-HMO noma cha.

Iphathwa kanjani i-HMO? Yiziphi izinketho?

Ukwelashwa kwama-HMO akufani kuwo wonke umuntu. Kuya ngezimpawu zakho, inani lamathumba, indawo akuyo, kanye nemiphumela anayo . Odokotela bangase batuse ukwelashwa okufana nalokhu:

• Ukuqaphela isimila / ukulinda okuqaphile: Ngezinye izikhathi, uma isimila singabangeli izinkinga noma ubuhlungu obukhulu, odokotela bangase batuse ukulinda isikhashana ukuze babone ukuthi isimila siyakhula noma sibangela izinkinga. Lokhu kubizwa ngokuthi "ukulinda okuqaphile."
• Ukulawulwa kobuhlungu: Uma kukhona ubuhlungu, imithi (njenge-paracetamol noma i-ibuprofen) inganikezwa ukuze ibulawule. Ngezinye izikhathi kungase kudingeke imithi enamandla yobuhlungu.
• Ukwelashwa ngokomzimba: Udokotela wezokwelapha ngokomzimba ufundisa ukuzivocavoca ukuze kusize ukugcina ukunyakaza kwamalunga nokuqinisa imisipha. Lokhu kungasiza futhi ekunciphiseni ubuhlungu.
• Ukuhlinzwa:
• Ukuhlinzwa ukuze kususwe isimila esisodwa noma ngaphezulu: Uma isimila sibangela ubuhlungu obungabekezeleleki, sicindezela imizwa, siphazamisa ukunyakaza kwamalunga, noma uma kukhona ukusola ukuthi isimila singase sibe nomdlavuza, isimila singasuswa ngokuhlinzwa.
• Ukuhlinzwa kokwelula noma ukuqondisa izitho ezingakhuli kahle: Uma ingalo noma umlenze ufinyeziwe noma weluliwe ngenxa ye-HMO, kunezindlela ezikhethekile zokuhlinzwa ukuze kulungiswe.

Ingabe izinkinga zingavela ngenxa yokwelashwa?

Abanye abantu abahlinzwa ukuze kususwe izimila ze-osteochondroma bangase babe nezibazi.Njenganoma yikuphi ukuhlinzwa, kunengozi encane yokutheleleka noma ukulimala kwemizwa. Kodwa-ke, odokotela benza konke okusemandleni abo ukunciphisa lezi zingozi.

Ingabe ikhona indlela yokugwema isimo se-HMO?

Empeleni, akukho ongakwenza ukuvimbela i-HMO ngoba kuyisimo sofuzo.

Kodwa-ke, uma wazi ukuthi othile emndenini wakho une-HMO, futhi ulindele umntwana, ungase uthande ukucabangela ukuhlolwa kofuzo ngaphambi kokukhulelwa ngesikhathi sokukhulelwa ukuze uthole ukuthi ingane yakho isizuze yini lesi simo njengefa. Isibonelo:

• "Ukusampula Kwe-Chorionic Villus (CVS)"
• `I-amniocentesis yofuzo`

Lezi zivivinyo zingasiza ekunqumeni ukuthi umbungu une-HMO kusengaphambili yini. Kwezinye izimo, uma usebenzisa izindlela zokufakelwa isidoda (njenge-IVF), ukuhlolwa kofuzo ngaphambi kokufakelwa kungaba yindlela yokukhetha. Khuluma nodokotela wakho ngalokhu ukuze ufunde kabanzi.

Ngingazi kanjani ukuthi ingane yami isengozini yokuthola i-HMO?

Uma wena, umyeni/umkakho, noma ilungu lomndeni eliseduze line-HMO, kubaluleke kakhulu ukwazisa udokotela wakho ngakho, njengoba ingane nayo ingaba sengozini.

Uma kungekho mlando womndeni, ingozi yokuthi ingane ibe ne-HMO iphansi kakhulu. Kodwa-ke, njengoba ngishilo ngaphambili, ingabangelwa futhi ukuguquka okusha, ngakho-ke akuyona into engenakwenzeka ngokuphelele.

Yini engingayilindela uma ingane yami ine-HMO?

Uma ingane yakho ine-HMO, lesi simo singahluka kuye ngengane. Ezinye izingane zingase zibe nezimila ezimbalwa ze-osteochondroma, noma zingase zibe nezimila eziningi.

Izindaba ezinhle ukuthi , ezimweni eziningi, ngemva kokuba ama-growth plate engane evaliwe, okusho ukuthi ukuphakama kwengane kanye nobude bamathambo kuyeka ukwanda, la mathumba ngeke esakhula.

Kodwa kwabanye abantu, ngisho nangemva kokuba ama-growth plate esevaliwe, angaphinde avele. Kuyinto engavamile.

I-HMO ingadala nezinye izimpawu. Ezinye izingane kanye nabantu abadala bangase babe nokukhathala , ubuhlungu, kanye nobunzima bokunyakaza imizimba yabo noma ukwenza imisebenzi.

Akuwona wonke umuntu one-HMO ozodinga ukwelashwa. Kodwa abanye bangadinga ukuhlinzwa noma ukwelashwa ngokomzimba. Odokotela bangase batuse nemithi noma ezinye izindlela zokwelapha ezingasiza ekulawuleni ubuhlungu.

Lesi simo sizohlala isikhathi esingakanani?

I-HMO iyisimo esihlala impilo yonke . Lokhu kusho ukuthi ayinakwelapheka ngokuphelele. Kodwa-ke, abantu abaningi abanalezi zifo ze-osteochondroma ezingenabungozi banesikhathi esijwayelekile sokuphila .Kungenzeka ukuthi uphile. Into ebaluleke kakhulu ukulawula izimpawu, ukuthola ukwelashwa okudingekayo, nokugcina impilo yakho isezingeni elihle. Khuluma nodokotela wakho njalo ngezinketho zokwelapha ezizosiza ingane yakho ukuthi ihlale iphilile futhi ijabule.

Ingabe izimila ze-osteochondroma zingaba umdlavuza? Yilokhu abantu abaningi abakwesabayo.

Lona umbuzo obaluleke kakhulu. Yebo, akuvamile kakhulu , okungukuthi, akuvamile kakhulu , izimila ze-osteochondroma kubantu abane-HMO zingaba yingozi. Phakathi kuka-2% no-5% wabantu abane-HMO (okungukuthi, phakathi kuka-2 no-5 kwabayi-100) bahlakulela lolu hlobo lomdlavuza. Uma lokhu kwenzeka, lezi zimila ezingenabungozi ziphenduka umdlavuza wamathambo obizwa ngokuthi i-'chondrosarcoma' noma i-'osteosarcoma'.

Udokotela wakho angase asole ukuthi i-osteochondroma ingaba nomdlavuza uma:

• Uma ingane yakho ithola ama-moles amasha ngemva kokuthomba , noma uma i-moles ekhona iqala ukukhula ngokushesha.
• Uma i-osteochondroma eyayingenabuhlungu ngaphambili iba buhlungu ngokuzumayo , noma uma ubuhlungu obukhona buba bukhulu kakhulu.
• Uma isivalo se-cartilage esiphezu kwesimila singaphezu kwamasentimitha amabili ubukhulu (lokhu kubonakala nge-MRI scan).

Izimila eziningi zomdlavuza zingasuswa ngokuhlinzwa. Kuye ngesigaba somdlavuza, kungakhathaliseki ukuthi usakazeke kangakanani (usuhlukaniswe), ingane yakho ingase ingadingi ukwelashwa okwengeziwe (njengokwelashwa ngamakhemikhali noma ngemisebe). Yingakho kubalulekile ukuhlolwa njalo.

Ungamnakekela kanjani umntwana one-HMO? Yini esingayenza njengabazali?

Uma ingane yakho ine-HMO, kubaluleke kakhulu ukunaka izimpawu zengane yakho .

• Uma ingane yakho iba nanoma yiziphi izimpawu ezintsha , ikakhulukazi ushintsho olusheshayo ngobukhulu beqhubu, ubuhlungu obandayo, noma ukuba ndikindiki, yazisa udokotela wakho ngokushesha.
• Landela imiyalelo kadokotela ngqo (indlela yokuphuza imithi yakho, indlela yokuzivocavoca, nokuthi uzofika nini ukuzohlolwa).
• Uma ingane yakho isezinhlungwini, ungayivumeli ibekezelele. Khuluma nodokotela wakho bese uthola izindlela zokulawula ubuhlungu.
• Cabanga nangempilo yengqondo yengane yakho. Ukuphila nesimo esinjengalesi kungaba yinselele ngezinye izikhathi enganeni. Khuluma nengane yakho, uyisekele.

Kufanele ngifune nini iseluleko sezokwelapha uma ingane yami ine-HMO? Yiziphi izimo eziphuthumayo?

Uma ingane yakho itholakale ine-HMO, funa iseluleko sezokwelapha ngokushesha ezimweni ezilandelayo:

• Uma ingane ithola izimila ezintsha .
• Uma uzizwa sengathi iqhubu liyakhula ngokuzumayo .
• Uma ubuhlungu bukhula ngokuzumayo noma uma kuvela ubuhlungu obusha, obukhulu (ikakhulukazi ngemva kokuthomba).
• Lapho kukhona khona iqhubuUma isikhumba sibomvu, sivuvukile, futhi sizizwa sifudumele (lokhu kungaba uphawu lokutheleleka).
• Uma uzwa ukungabi namandla noma ubuthakathaka engalweni noma emlenzeni.

Ungazinaki lezi zimpawu. Ukubona udokotela kusenesikhathi kungavimbela izinkinga ezinkulu ukuthi zingabi khona.

Ingabe izingane ezine-HMO zingaba ne-autism?

Abanye abazali nabo babuza ngalokhu. Ochwepheshe bezokwelapha babike amacala amaningana ezingane ezine-HMO kanye nesimo esibizwa ngokuthi 'i-autism spectrum disorder'. Kodwa-ke, abakaqiniseki ukuthi kukhona yini ukuxhumana okuqondile phakathi kwalezi zimo ezimbili. Abacwaningi basacwaninga ukuthi izinguquko zofuzo (`EXT1`,` EXT2` genes) ezibangela i-HMO nazo ziyasiza yini ekuthuthukisweni kwe-autism. Njengamanje, akukho siphetho esiqinile esifinyelelwe kulokhu.

Okokugcina, izinto ezibaluleke kakhulu okudingeka uzikhumbule

I-HMO, emelela i-'Hereditary Multiple Osteochondromas' (ngezinye izikhathi ebizwa ngokuthi i-'Multiple Hereditary Exostoses'), yisimo sofuzo lapho izimila ezingengozini (i-osteochondromas) zakheka khona emathanjeni nasezindizeni zokukhula zezingane kanye nabantu abadala abasebasha.

Nakuba i-HMO iyisimo esihlala isikhathi eside, ingabangela ubuhlungu kanye nezinguquko zamathambo. Kodwa-ke, ukwelashwa okufana nokuhlinzwa, ukwelashwa ngokomzimba, kanye nokuphathwa kobuhlungu kunganciphisa kakhulu izimpawu, kulungise ukukhubazeka kwamathambo, futhi kukusize uphile impilo enhle.

Into ebaluleke kakhulu ukungathuki noma ukwethuka uma ingane yakho inalezi zimpawu, kodwa ukubona udokotela ofanelekayo ngokushesha okukhulu. Khuluma nodokotela ngokukhululekile bese unquma ukuthi yiziphi izivivinyo ingane yakho ezidingayo nokuthi yikuphi ukwelashwa okungcono kakhulu. Ukusekela nokuqonda kwakho kuzoba amandla amakhulu engane yakho ukuze iphile ngempumelelo nalesi simo.

Ama - Osteochondroma amaningi azuzwe njengefa, ama-Exostoses amaningi azuzwe njengefa, ama-Osteochondroma, ama-Bone Tumors, izifo zofuzo, izifo zabantwana, ubuhlungu bamathambo