Iyini i-McCune-Albright Syndrome? Ake sixoxe ngayo!

Sonke siyakhathalela impilo yezingane zethu, akunjalo? Ngezinye izikhathi, kuyinto evamile ukuzizwa wesaba kancane lapho sibona izinguquko ezincane emizimbeni yezingane zethu esingazilindele. Mhlawumbe kuba yindawo ensundu esikhumbeni, noma ushintsho oluncane ekukhuleni kwamathambo, noma ngisho nento efana nengane engena ebusheni ngaphambi kwesikhathi esilindelwe. Lokhu akuzona njalo izinto ezimbi kakhulu, kodwa ngezinye izikhathi kungaba izimpawu zesimo esingavamile sezakhi zofuzo. Esinye sezifo ezingavamile, kodwa okufanele sazi, zezakhi zofuzo esizokhuluma ngazo namuhla yiMcCune-Albright Syndrome.

Iyini i-McCune-Albright Syndrome?

Kalula nje, i-McCune-Albright syndrome iyisimo sofuzo. Ithinta kakhulu amathambo engane, isikhumba, kanye nesistimu ye-endocrine, noma ama-gland akhiqiza ama-hormone . Lesi simo singabangela izinto ezifana nokuqhekeka kwezicubu zamathambo (esikubiza ngokuthi "i-fibrous dysplasia"). Iphinde ibangele amabala akhethekile (umbala) esikhumbeni, kanti amanye ama-gland alawula ukukhula asebenza ngokweqile.

Khumbula, ezinye izingane zingase zingathinteki kakhulu yilesi simo, zinezimpawu ezincane kakhulu. Kodwa-ke, kwabanye, kungaba nzima kakhulu, ngezinye izikhathi kube yingozi ngisho nokuphila. Ngakho-ke kubalulekile ukuqaphela lokhu.

Ubani othinteka kakhulu yilesi simo?

I-McCune-Albright syndrome iwumphumela wokuguquka kwezakhi zofuzo okusha . Lokhu kusho ukuthi akuyona into ezuzwe njengefa kubazali eya ezinganeni. Asikwazi ukubikezela ukuthi lokhu kuguquka kwezakhi zofuzo kuzokwenzeka nini futhi kanjani. Ngokuvamile, lokhu kuguquka kwezakhi zofuzo kwenzeka ngemva kokukhulelwa/ukukhulelwa, lapho ingane ikhulelwa esibelethweni sikanina, ngenxa yephutha ekuhlukanisweni kwamaseli nokuphindaphindana kwawo.

Khumbula lokhu: Lokhu kuguquka kwezakhi zofuzo akubangelwa yinoma yini abazali abayenzile noma abangayenzanga ngesikhathi sokukhulelwa. Ngakho ungakhathazeki ngakho.

Sivame kangakanani lesi simo?

Empeleni, i-McCune-Albright syndrome iyisimo esingavamile kakhulu. Emhlabeni wonke, kulinganiselwa ukuthi lesi simo senzeka cishe koyedwa kwabayikhulu lezinkulungwane noma isigidi sokuzalwa . Ngakho-ke, akuyona into ebonakala kaningi.

I-McCune-Albright Syndrome iwuthinta kanjani umzimba wengane?

Lesi simo singathinta umzimba wengane ngezindlela ezahlukene. Ikakhulukazi, singathinta ukukhula kwamathambo kanye nokusebenza kohlelo lwe-endocrine (uhlelo lwama-hormone), okungathinta ukuphakama nesisindo sengane .

Futhi, ungase uqaphele amabala ansundu ahlukile esikhumbeni sengane yakho (abizwa ngokuthi "amabala e-café-au-lait"). Enye into ebalulekile ukuthi ezinye izinganeUkubonisa izimpawu zokuthomba esemncane kakhulu.

Uma unomuzwa wokuthi ingane yakho inenkinga yokukhula nokukhula ngendlela evamile ngenxa yalezi zimpawu, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha. Udokotela uzokunikeza uhlelo lokwelapha oluqondene ngqo nengane yakho futhi oluzosiza ukulawula izimpawu.

Ziyini izimpawu zeMcCune-Albright Syndrome?

Izimpawu zalesi simo zibonakala kakhulu emathanjeni, esikhumbeni, kanye nasesimisweni se-endocrine (uhlelo lwama-hormone) . Kodwa-ke, lezi zimpawu azibonakali ngendlela efanayo noma ngobunzima obufanayo kuyo yonke ingane. Zingahluka kusuka kwengane eyodwa kuya kwenye.

Izimpawu zamathambo

Isici esiyinhloko nesivame kakhulu esihlobene namathambo salesi simo yisimo esibizwa ngokuthi "i-fibrous dysplasia." Kalula nje, lokhu kwenzeka lapho izicubu zesibazi zikhula ngaphakathi kwamathambo esikhundleni sezicubu zamathambo ezinempilo. Ngakho-ke, njengoba ingane ikhula, izindawo lapho le zicubu ze-fibrous zitholakala khona ziba buthakathaka. Lokhu kungaholela ekuqhekekeni, noma amathambo angakhula ngokungajwayelekile futhi akhubazeke . Kuye ngenani lamathambo athintekile, lesi simo "se-fibrous dysplasia" singaba mnene kwabanye abantu futhi sibe sibi kwabanye.

Enye into ukuthi, akuvamile kakhulu, okusho ukuthi abantu abangaphansi kuka-1% abanalesi simo, le "fibrous dysplasia" ingabangela izilonda/amathumba emathanjeni anomdlavuza. Akuvamile kakhulu, kodwa kuhle ukukuqaphela.

Ezinye izimpawu ezihlobene namathambo zifaka:

• Ukuthuthukiswa kwamathambo obuso okungalingani.
• Ubuhlungu bamathambo kanye nokungakhululeki.
• Ubunzima bokuhamba noma ukunyakaza (Ukulahlekelwa ukunyakaza).
• Izifo ezenza amathambo abe buthaka, njenge-'Rickets' noma i-'osteomalacia'.
• I-Scoliosis.
• Ubude obufushane.
• Ukukhula kwamathambo emilenzeni okungalingani (lokhu kungabangela ukuhamba uxhuga).

Izimpawu zesikhumba

Ezinye izingane ezizalwa zine-McCune-Albright syndrome zine -pigmentation yesikhumba ehlukile kwezinye izindawo zesikhumba sazo. La mabala angahluka kusukela konsundu okhanyayo kuya konsundu omnyama . Anemingcele egobile. Lawa abizwa ngokuthi amabala e-café-au-lait. Angase avele ohlangothini olulodwa lomzimba. Njengoba ingane ikhula, la mabala angase avele kakhulu futhi anganda ngenani.

Izimpawu zesistimu ye-endocrine

Lesi simo singathinta uhlelo lwe-endocrine lwengane, uhlelo lwezindlala ezikhiqiza ama-hormone. Ngenxa yalokho, izingane zingabonisa izimpawu zokuthomba zisencane kakhulu . Amantombazane ikakhulukazi angaqala ukuya esikhathini eneminyaka emibili ubudala.Lokhu kwenzeka ngoba ama-cyst kuma-ovary awo akhiqiza i-estrogen eningi, i-hormone yocansi yabesifazane. Abafana nabo bangabhekana nalezi zimpawu zokuqala zokuthomba.

Cishe abantu abangu-50% abane-McCune-Albright syndrome bane-thyroid gland ekhuphukile . Lapho i-thyroid gland ikhula, ikhiqiza i-thyroid hormone eningi kakhulu. Lesi simo sibizwa ngokuthi i-hyperthyroidism. Lokhu kungabangela izimpawu ezifana nokushaya kwenhliziyo okusheshayo, ukujuluka ngokweqile, umfutho wegazi ophakeme, kanye nokwehla kwesisindo .

Ezinye izimpawu ezihlobene nesistimu ye-endocrine zifaka:

• Ukukhiqizwa ngokweqile kwama-hormone okukhula yi-pituitary gland. Lokhu kungabangela ukwandiswa kwezingalo, izici zobuso eziyindilinga, kanye/noma izimo ezifana ne-arthritis (i-acromegaly).
• Izindlala ze-adrenal zikhiqiza i-cortisol eningi kakhulu ye-hormone yokucindezeleka. Lokhu kungaholela esimweni esibizwa ngokuthi i-Cushing's syndrome, esibonakala ngokukhuluphala ngokweqile kanye nokukhula okulibazisayo.

Iyini imbangela yalokhu?

I-McCune-Albright syndrome ibangelwa ukuguquka kwezakhi zofuzo ze-GNAS1. Izakhi zofuzo ze-GNAS1 zikhiqiza amaprotheni alawula umsebenzi wama-hormone. Ngakho-ke, uma kukhona ukuguquka kwalesi sakhi sofuzo, i-enzyme ebizwa ngokuthi i-adenylate cyclase (nayo eyiprotheni) iqala ukukhiqiza ama-hormone amaningi kakhulu. Yileso imbangela yalezi zimpawu.

Into ebalulekile ukuthi lokhu kuguquka kwezakhi zofuzo kwenzeka ngemva kokuba ingane ikhulelwe esibelethweni sikanina (ukuguqulwa kwesimo somzimba). Okusho ukuthi, lesi akusona isimo esizuzwe njengefa kubazali kuya enganeni. Lokhu akubangelwa yiphutha likamama noma likababa, noma into abayenzile noma abangayenzanga ngesikhathi bekhulelwe. Futhi, azikho izimo ezifakazelwe zomuntu one-McCune-Albright syndrome enengane enesimo esifanayo. Isizathu esiqondile salokhu "kuguqulwa kwesimo somzimba" asikatholakali. Ucwaningo lusikisela ukuthi lezi yizenzakalo ezingahleliwe, ezizenzakalelayo.

Lesi sifo sitholakala kanjani?

I-McCune-Albright syndrome ivame ukutholakala ebuntwaneni. Udokotela uzohlola ingane futhi abheke ukukhubazeka kwesistimu ye-endocrine, izilonda zesikhumba ezifana "namabala e-café-au-lait" kanye "ne-fibrous dysplasia". Ukuxilongwa kuvame ukwenziwa ngemva kokuba kuphawulwe izimpawu zokuthomba kwasekuqaleni noma ukukhula kwamathambo okungavamile .

Hlobo luni lokuhlolwa okwenziwayo ngalokhu?

Ukuhlolwa kokuthola lesi sifo kuhlanganisa:

• Ukuhlolwa kwegazi: Hlola ukusebenza kohlelo lwe-endocrine (uhlelo lwama-hormone).
• Ukuhlolwa kofuzo:Thola ukuguquka kwezakhi zofuzo okubangela izimpawu zakho. Lokhu kuvame ukuhilela ukuthatha isampula encane (i-biopsy) yesikhumba noma ezinye izicubu bese uyihlola.
• Ukuhlolwa kwezithombe: Ukuhlolwa okufana ne-X-ray kwenziwa ukuhlola ukukhula kwamathambo.

Iphathwa kanjani?

Ukwelashwa kwe-McCune-Albright syndrome kuyahlukahluka kuye ngomuntu nomuntu. Akukho ukwelashwa kwalesi simo. Umgomo oyinhloko wokwelashwa ukunciphisa nokulawula izimpawu.

Lokhu okulandelayo kungenziwa njengokwelashwa:

• Imithi yokwelapha izinkinga zokukhula kwamathambo, njenge-bisphosphonates, inciphisa ingozi yokuqhekeka kwamathambo.
• Imithi yokulawula ukuthomba kwasekuqaleni, isibonelo, izithibi ze-aromatase.
• Imithi yesimo esithi `hyperthyroidism`, isibonelo `imithi yokulwa ne-thyroid`.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi kuyatholakala ngezinkinga zokuhamba.
• Ukuhlinzwa kwezinkinga zokukhula kwamathambo, ikakhulukazi i-fibrous dysplasia.

Nginganciphisa yini ingozi yokuba ingane yami ithole lesi simo?

Njengoba sesixoxile ngaphambili, i-McCune-Albright syndrome ibangelwa ukuguquka kwezakhi zofuzo okusha. Ngakho-ke, akukho esingakwenza ukuvimbela ukuthi kungenzeki.

Uma ukhulelwe umntwana, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo ukuze uthole ukuthi usengozini yini yezinye izimo zofuzo. Kodwa-ke, lesi simo esithile, i-McCune-Albright syndrome, akuyona into engavinjelwa kusenesikhathi.

Uma ingane yami inalesi simo, yini okufanele ngiyilindele?

Ukubikezela kwengane yakho kuncike ebunzimeni besifo. Kodwa-ke, abantu abaningi baphila impilo evamile. Ithimba lakho lezokwelapha lizokusiza ukuthola ukwelashwa okungcono kakhulu ukusiza ekunciphiseni izimpawu zengane yakho nokunciphisa ukungakhululeki kwayo.

Ingane yakho ingase ibe mfushane kancane kunezinye ezineminyaka yayo ngoba ama-growth plate avala kusenesikhathi ngenxa yokuthomba kusenesikhathi. Kodwa-ke, uma lesi simo sitholakala futhi selashwa kusenesikhathi, kunethuba elihle lokuthi lezi zinguquko zokuthomba zingabambezeleka.

Kubaluleke kakhulu ukulandelela izinyathelo zokukhula kwengane yakho ukuze uqinisekise ukuthi ingane yakho ikhula kahle.

Kukhona ingozi encane kakhulu yokuthola umdlavuza ngenxa yalesi sifo, ngakho -ke kubalulekile ukuthi ingane yakho ihlolwe njalo.

Ikakhulukazi, abesifazane abane-McCune-Albright syndrome basengozini enkulu yokuthola umdlavuza webele besebancane kakhulu kunokuvamile, ngakho-ke kubalulekile ukukhuluma nodokotela wakho ngalokhu bese uthola izivivinyo ezinconywayo.

Ngingayibona nini udokotela?

Uma ingane yakho ikhombisa izimpawu ze-McCune-Albright syndrome, bona udokotela. Isibonelo:

• Ukungahlaliseki njalo, ukusebenza ngokweqile, ukuqhuma kwentukuthelo okungazelelwe, kanye nokungalali (lokhu kungaba izimpawu ze-hyperthyroidism).
• Ukushintsha kwesimo samathambo ngenxa yokuphazamiseka kokukhula kwamathambo.
• Ubunzima bokuhamba.
• Ukuya esikhathini kuqala esemncane kakhulu.
• Ubuhlungu obukhulu emathanjeni.

Isimo Esiphuthumayo! Uma ucabanga ukuthi ingane yakho iphukile ithambo (isib. ubuhlungu, ukuvuvukala, ukungakwazi ukunyakaza noma ukuthwala isisindo, ukushayeka), iya ekamelweni eliphuthumayo ngokushesha.

Yimiphi imibuzo okufanele uyibuze udokotela?

Uma usuyazi ukuthi ingane yakho inalesi simo, kungaba usizo ukubuza udokotela imibuzo efana nale:

• Ingabe ingane yami iyayidinga imithi yokunciphisa izimpawu zayo?
• Ingabe ingane yami izodinga ukuhlinzwa ngenxa ye-fibrous dysplasia?
• Ingabe ikhona imiphumela emibi emithini enikezwa ingane yami ukulawula izimpawu?

Ukuthola ukuthi ingane yakho inesifo esingavamile sofuzo kungaba nzima kubazali abasha. Kodwa khumbula, ukuxilongwa kusenesikhathi kanye nokwelashwa kungasiza ingane yakho ukuba ibhekane nezimpawu. Udokotela wakho angase futhi asikisele ukuthi ubonane nomeluleki wezakhi zofuzo, uchwepheshe wezakhi zofuzo. Bangakusiza ukuthi uqonde kangcono ukuxilongwa futhi bakunikeze ukwesekwa ngokomzwelo okudingayo. Bangakuqondisa nezinyathelo ongazithatha ukusiza ingane yakho iphile impilo enempilo neyanelisayo.

Izinto ezibalulekile okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-McCune-Albright syndrome iyisifo esingavamile, kodwa esingaba yingozi kakhulu esibangelwa izakhi zofuzo.

• Lokhu kuthinta amathambo, isikhumba, kanye nesistimu yamahomoni .
• Izimpawu eziyinhloko yi- "fibrous dysplasia" (izicubu zesibazi emathanjeni), "amabala e-café-au-lait" (amabala ansundu esikhumbeni), kanye nokuthomba kwasekuqaleni.
• Lokhu akuyona into ezuzwe njengefa kubazali; kungukuguquka kwezakhi zofuzo okusha.
• Nakuba kungekho ukwelashwa okuphelele, kunezindlela zokwelapha ezinhle zokulawula izimpawu.
• Ukuxilongwa nokwelashwa kusenesikhathi, kanye nokuqapha njalo kwezokwelapha, kubaluleke kakhulu.
• Awuwedwa; funa usizo kodokotela nakwabeluleki bezakhi zofuzo.

Ngiyethemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo. Khumbula, uma unokungabaza, ungalokothi unqikaze ukukhuluma nodokotela.

I- McCune-Albright Syndrome, izifo zofuzo, izifo zamathambo, i-fibrous dysplasia, amabala esikhumba, amabala e-café-au-lait, izinkinga zamahomoni, ukuthomba kwasekuqaleni, i-fibrous dysplasia, amabala e-café-au-lait, uhlelo lwe-endocrine