Yintoni iMcCune-Albright Syndrome? Makhe sithethe ngayo!

Sonke sikhathalele impilo yabantwana bethu, akunjalo? Ngamanye amaxesha, kuyinto eqhelekileyo ukuziva soyika kancinci xa sibona utshintsho oluncinci emizimbeni yabantwana bethu esingalulindelanga. Mhlawumbi libala elimdaka eluswini, okanye utshintsho oluncinci ekukhuleni kwamathambo, okanye into efana nomntwana oqala ukufikisa ngaphambi kwexesha elilindelweyo. Ezi azisoloko zinzima, kodwa ngamanye amaxesha zinokuba ziimpawu zesifo esingaqhelekanga semfuza. Esinye sezifo ezingaqhelekanga, kodwa ezifanelekileyo ukwazi ngaso, zemfuza esiza kuthetha ngazo namhlanje yiMcCune-Albright Syndrome.

Yintoni iMcCune-Albright Syndrome?

Ngamafutshane, iMcCune-Albright syndrome yimeko yemfuza. Ichaphazela kakhulu amathambo omntwana, ulusu, kunye nenkqubo ye-endocrine, okanye amadlala avelisa iihomoni . Le meko inokubangela izinto ezifana nokuqhekeka kwezicubu zethambo (esikubiza ngokuba yi-"fibrous dysplasia"). Ikwabangela amabala akhethekileyo (umbala) eluswini, kwaye amanye amadlala alawula ukukhula asebenza kakhulu.

Khumbula, abanye abantwana basenokungachaphazeleki kakhulu yile meko, beneempawu ezincinci kakhulu. Nangona kunjalo, kwabanye, inokuba nzima ngakumbi, ngamanye amaxesha ide ibeke ubomi esichengeni. Ngoko ke kubalulekile ukuqaphela oku.

Ngubani ochaphazeleka kakhulu yile meko?

I-McCune-Albright syndrome sisiphumo sotshintsho olutsha lwezakhi zofuzo . Oku kuthetha ukuba asiyonto ezuzwe ngabazali ukuya ebantwaneni. Asinakuqikelela ukuba olu tshintsho lwezakhi zofuzo luya kwenzeka nini kwaye njani. Ngokwesiqhelo, olu tshintsho lwezakhi zofuzo lwenzeka emva kokukhulelwa/ukuchumisa, xa umntwana ekhulelwa esibelekweni sikanina, ngenxa yempazamo yokwahlukana kweeseli kunye nokuphindaphinda.

Khumbula oku: Olu tshintsho lwemfuza alubangelwanga yinto eyenziwa ngabazali okanye abangayenzanga ngexesha lokukhulelwa. Ngoko ke ungakhathazeki ngayo.

Ixhaphake kangakanani le meko?

Enyanisweni, iMcCune-Albright syndrome yimeko engaqhelekanga kakhulu. Kwihlabathi liphela, kuqikelelwa ukuba le meko yenzeka kumntu omnye kwikhulu lamawaka okanye kwisigidi sokuzalwa . Ngoko ke, asiyonto ibonwa rhoqo.

I-McCune-Albright Syndrome iyichaphazela njani umzimba womntwana?

Le meko inokuchaphazela umzimba womntwana ngeendlela ezahlukeneyo. Ngokukodwa, inokuchaphazela ukukhula kwamathambo kunye nokusebenza kwenkqubo ye-endocrine (inkqubo yehomoni), enokuchaphazela ubude nobunzima bomntwana .

Kwakhona, ungabona amabala amdaka ahlukileyo eluswini lomntwana wakho (abizwa ngokuba yi-"café-au-lait spots"). Enye into ebalulekileyo kukuba abanye abantwanaUkubonakalisa iimpawu zokufikisa esemncinci kakhulu.

Ukuba uvakalelwa kukuba umntwana wakho unengxaki yokukhula nokukhula ngokwesiqhelo ngenxa yezi mpawu, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngoko nangoko. Ugqirha uza kubonelela ngesicwangciso sonyango esikhethekileyo kumntwana wakho kwaye siya kunceda ukulawula iimpawu.

Zithini iimpawu zeMcCune-Albright Syndrome?

Iimpawu zale meko zibonakala kakhulu emathanjeni, kulusu, nakwinkqubo ye-endocrine (inkqubo yehomoni) . Nangona kunjalo, ezi mpawu azibonakali ngendlela efanayo okanye ngobunzima obufanayo kumntwana ngamnye. Zinokwahluka ukusuka komnye umntwana ukuya komnye.

Iimpawu zethambo

Uphawu oluphambili noluqhelekileyo olunxulumene namathambo kule meko yimeko ebizwa ngokuba yi-"fibrous dysplasia." Ngamafutshane, oku kuxa izicubu ezibomvu zikhula ngaphakathi kwamathambo endaweni yezicubu eziphilileyo zamathambo. Ngoko ke, njengoko umntwana ekhula, iindawo apho izicubu ezithambileyo zikhoyo ziba buthathaka. Oku kunokukhokelela ekuqhekekeni, okanye amathambo anokukhula ngendlela engaqhelekanga kwaye agule . Ngokuxhomekeke kwinani lamathambo achaphazelekileyo, le meko ye-"fibrous dysplasia" inokuba buthathaka kwabanye abantu kwaye ibe nzima kwabanye.

Enye into kukuba, kunqabile kakhulu, oko kuthetha ukuba ngaphantsi kwe-1% yabantu abanale meko, le "fibrous dysplasia" inokubangela izilonda/iithumba ezibangelwa ngumhlaza emathanjeni. Ayiqhelekanga kakhulu, kodwa kulungile ukuyiqonda.

Ezinye iimpawu ezinxulumene namathambo ziquka:

• Uphuhliso olungalinganiyo lwamathambo obuso.
• Intlungu yamathambo kunye nokungonwabi.
• Ubunzima bokuhamba okanye ukushukuma (Ukulahlekelwa kukuhambahamba).
• Izifo ezenza amathambo abe buthathaka, ezifana ne-'Rickets' okanye i-'osteomalacia'.
• I-Scoliosis.
• Ubude obufutshane.
• Ukukhula kwamathambo emilenzeni okungalinganiyo (oku kunokubangela ukuhamba uqhwalela).

Iimpawu zolusu

Ezinye iintsana ezizelwe zineMcCune-Albright syndrome zine -pigmentation yesikhumba eyahlukileyo kwezinye iindawo zesikhumba sazo. La mabala anokwahluka ukusuka kumbala omdaka okhanyayo ukuya kumbala omdaka obumnyama . Akwanazo nemida egobileyo. La mabala abizwa ngokuba ngamabala e-café-au-lait. Anokuvela kuphela kwelinye icala lomzimba. Njengoko umntwana ekhula, la mabala anokugqama ngakumbi kwaye anokwanda ngenani.

Iimpawu zenkqubo ye-endocrine

Le meko inokuchaphazela inkqubo ye-endocrine yomntwana, inkqubo yamadlala avelisa iihomoni. Ngenxa yoko, abantwana banokubonisa iimpawu zokufikisa besebancinci kakhulu . Amantombazana ngokukodwa anokuqala ukuya exesheni eneminyaka emibini ubudala.Oku kwenzeka kuba ii-cysts ezikwii-ovari zazo zivelisa i-estrogen egqithisileyo, i-hormone yesini yabasetyhini. Abafana nabo banokuzibona ezi mpawu zokuqala zokufikisa.

Malunga nama-50% abantu abane-McCune-Albright syndrome bane-thyroid gland ekhulayo . Xa i-thyroid gland ikhula, ivelisa i-thyroid hormone eninzi kakhulu. Le meko ibizwa ngokuba yi-hyperthyroidism. Oku kunokubangela iimpawu ezifana nokubetha kwentliziyo ngokukhawuleza, ukubila kakhulu, uxinzelelo lwegazi oluphezulu, kunye nokwehla kobunzima .

Ezinye iimpawu ezinxulumene nenkqubo ye-endocrine ziquka:

• Ukuveliswa ngokugqithisileyo kweehomoni zokukhula yi-pituitary gland. Oku kunokubangela ukwandiswa kwamalungu omzimba, iimpawu zobuso ezijikelezileyo, kunye/okanye iimeko ezifana ne-arthritis (i-acromegaly).
• Amadlala e-adrenal avelisa i-cortisol eninzi kakhulu. Oku kunokukhokelela kwimeko ebizwa ngokuba yi-Cushing's syndrome, ebonakaliswa kukutyeba kakhulu kunye nokulibaziseka kokukhula.

Yintoni isizathu soku?

I-McCune-Albright syndrome ibangelwa kukuguquka kwejini ye-GNAS1. Ijini ye-GNAS1 ivelisa iiproteni ezilawula umsebenzi weehomoni. Ngoko ke, xa kukho utshintsho kule jini, i-enzyme ebizwa ngokuba yi-adenylate cyclase (ekwayiproteni) iqala ukuvelisa iihomoni ezininzi kakhulu. Yiyo loo nto ezi mpawu zibangela oku.

Into ebalulekileyo kukuba olu tshintsho lwemfuza lwenzeke emva kokuba umntwana ekhulelwe esibelekweni sikanina (somatic mutation). Oko kukuthi, olu asilo tshintsho oluvela kubazali ukuya kumntwana. Oku akubangelwa yimpazamo kamama okanye kayise, okanye into abayenzileyo okanye abangayenzanga ngexesha lokukhulelwa. Kwakhona, akukho matyala angqiniweyo omntu one-McCune-Albright syndrome enomntwana onesimo esifanayo. Isizathu esichanekileyo sale "somatic mutation" asikafunyanwa. Uphando lubonisa ukuba ezi ziziganeko ezingalindelekanga, ezizenzekelayo.

Sifunyaniswa njani esi sifo?

Isifo sikaMcCune-Albright sidla ngokufunyaniswa kwasebuntwaneni. Ugqirha uza kumhlola umntwana aze ajonge iingxaki zenkqubo ye-endocrine, izilonda zesikhumba ezifana ne-"café-au-lait spots" kunye ne-"fibrous dysplasia". Esi sifo sidla ngokwenzeka emva kokuba kuqatshelwe iimpawu zokufikisa kwasekuqaleni okanye ukukhula okungaqhelekanga kwamathambo .

Luhlobo luni lovavanyo olwenziwayo koku?

Uvavanyo lokufumanisa esi sifo luquka:

• Uvavanyo lwegazi: Jonga ukusebenza kwenkqubo ye-endocrine (inkqubo ye-hormone).
• Uvavanyo lwemfuza:Chonga utshintsho lwemfuza olubangela iimpawu zakho. Oku kudla ngokubandakanya ukuthatha isampuli encinci (i-biopsy) yesikhumba okanye ezinye izicwili uze uyivavanye.
• Uvavanyo lwemifanekiso: Uvavanyo olufana ne-X-ray lwenziwa ukujonga ukukhula kwamathambo.

Iphathwa njani?

Unyango lweMcCune-Albright syndrome luyahluka kumntu nomntu. Akukho ndlela yonyango lwesi sifo. Injongo ephambili yonyango kukunciphisa nokulawula iimpawu.

Oku kulandelayo kungenziwa njengonyango:

• Amayeza okuthintela ukukhula kwamathambo, anjenge-bisphosphonates, anciphisa umngcipheko wokuqhekeka kwamathambo.
• Amayeza okulawula ukufikisa kwangethuba, umzekelo, izithinteli ze-aromatase.
• Amayeza esi sifo esithi `hyperthyroidism`, umzekelo `i-antithyroid`.
• Unyango lomzimba kunye nonyango lomsebenzi ziyafumaneka kwiingxaki zokuhamba.
• Utyando lweengxaki zokukhula kwamathambo, ingakumbi i-fibrous dysplasia.

Ndingawunciphisa na umngcipheko wokuba umntwana wam afumane esi sifo?

Njengoko besikhe sathetha ngaphambili, iMcCune-Albright syndrome ibangelwa kukuguquka kwezakhi zofuzo. Ngoko ke, akukho nto sinokuyenza ukuthintela ukuba ingenzeki.

Ukuba ulindele umntwana, kulungile ukuthetha nogqirha wakho malunga neengcebiso zemfuza ukuze ufumane ukuba usemngciphekweni wezinye iimeko zemfuza. Nangona kunjalo, le meko, iMcCune-Albright syndrome, ayisiyonto inokuthintelwa kwangaphambili.

Ukuba umntwana wam unale meko, ndimele ndilindele ntoni?

Uqikelelo lomntwana wakho luxhomekeke kubukhulu besifo. Nangona kunjalo, uninzi lwabantu luphila ubomi obuqhelekileyo. Iqela lakho lezonyango liza kukunceda ufumane unyango olungcono lokunceda ukunciphisa iimpawu zomntwana wakho kunye nokunciphisa ukungonwabi kwakhe.

Umntwana wakho usenokuba mfutshane kancinci kunabanye abaneminyaka yakhe kuba iipleyiti zokukhula zivala kwangethuba ngenxa yokufikisa kwangethuba. Nangona kunjalo, ukuba imeko ifunyaniswe kwaye inyangwa kwangethuba, kukho ithuba elihle lokuba olu tshintsho lokufikisa lunokulibaziseka.

Kubaluleke kakhulu ukugcina umkhondo weminyaka yokukhula komntwana wakho ukuze uqinisekise ukuba umntwana wakho ukhula kakuhle.

Kukho umngcipheko omncinci kakhulu wokuba nomhlaza ngenxa yesi sifo, ngoko ke kubalulekile ukuba umntwana wakho aye kuhlolwa rhoqo ngugqirha.

Ngokukodwa, abafazi abane-McCune-Albright syndrome basengozini enkulu yokuba nomhlaza webele besebancinci kunesiqhelo, ngoko ke kubalulekile ukuthetha nogqirha wakho ngale nto kwaye ufumane uvavanyo olucetyiswayo.

Ndifanele ndibonane nogqirha nini?

Ukuba umntwana wakho ubonisa iimpawu zeMcCune-Albright syndrome, bonana nogqirha. Umzekelo:

• Ukungazoli rhoqo, ukusebenza ngokugqithisileyo, ukugqabhuka ngumsindo ngequbuliso, kunye nokungalali (ezi zisenokuba ziimpawu ze-hyperthyroidism).
• Utshintsho kwimilo yamathambo ngenxa yokwahluka kokukhula kwamathambo.
• Ubunzima bokuhamba.
• Ukuya exesheni kuqala emncinci kakhulu.
• Intlungu ebuhlungu emathanjeni.

Ingxamiseko! Ukuba ucinga ukuba umntwana wakho uphuke ithambo (umz., iintlungu, ukudumba, ukungakwazi ukuhamba okanye ukuthwala ubunzima, ukukrweleka), yiya kwigumbi likaxakeka ngokukhawuleza.

Yeyiphi imibuzo omele uyibuze ugqirha?

Wakuba usazi ukuba umntwana wakho unale meko, kunokuba luncedo ukubuza ugqirha imibuzo efana nale:

• Ngaba umntwana wam udinga amayeza okunciphisa iimpawu zakhe?
• Ngaba umntwana wam uza kufuna utyando lwe-fibrous dysplasia?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kumayeza anikwa umntwana wam ukulawula iimpawu?

Ukufumanisa ukuba umntwana wakho unesimo esingaqhelekanga semfuza kunokuba nzima kubazali abatsha. Kodwa khumbula, ukuxilongwa kwangoko kunye nonyango kunokunceda umntwana wakho ukuba ajongane neempawu. Ugqirha wakho unokucebisa ukuba ubonane nomcebisi wemfuza, ingcali kwimfuza. Banokukunceda uqonde ukuxilongwa ngcono kwaye bakunike inkxaso yeemvakalelo oyifunayo. Banokukukhokela nangamanyathelo onokuwathatha ukunceda umntwana wakho aphile ubomi obusempilweni nobanelisayo.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo sikaMcCune-Albright sisifo esingaqhelekanga, kodwa esinokuba sibi kakhulu kwimfuza.

• Oku kuchaphazela amathambo, ulusu, kunye nenkqubo yamahomoni .
• Iimpawu eziphambili zezi ``fibrous dysplasia`` (izicubu ezirhabaxa emathanjeni), ``café-au-lait spots`` (amabala amdaka eluswini), kunye nokufikisa kwasekuqaleni.
• Oku akuyonto izuzwe njengelifa kubazali; kukuguquka kwezakhi zofuzo okusandul’ ukwenzeka.
• Nangona kungekho nyango lupheleleyo, kukho unyango olufanelekileyo lokulawula iimpawu.
• Ukuxilongwa kwangoko kunye nonyango, kunye nokuhlolwa rhoqo kwezonyango, kubaluleke kakhulu.
• Awuwedwa; funa uncedo koogqirha kunye nabacebisi ngemfuza.

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde kakuhle esi sifo. Khumbula, ukuba unamathandabuzo, ungaze ungathandabuzi ukuthetha nogqirha.

Isifo sikaMcCune -Albright, izifo zemfuza, izifo zamathambo, i-fibrous dysplasia, amabala esikhumba, amabala e-café-au-lait, iingxaki zehomoni, ukufikisa kwangethuba, i-fibrous dysplasia, amabala e-café-au-lait, inkqubo ye-endocrine