Chii chinonzi McCune-Albright Syndrome? Ngatikurukurei nezvazvo!

Tose tine hanya neutano hwevana vedu, handiti? Dzimwe nguva, zvakajairika kunzwa kutya zvishoma patinoona shanduko diki mumiviri yevana vedu dzatisingatarisiri. Pamwe iganda rakatsvuka, kana shanduko diki mukukura kwemapfupa, kana kutoti chimwe chinhu chakaita semwana ari kupinda mukuyaruka nguva isati yakwana. Izvi hazvisi nguva dzose zvakakomba, asi dzimwe nguva zvinogona kuva zviratidzo zvechirwere chemajini chisingawanzoitiki. Chimwe chezvirwere zvemajini zvisingawanzoitiki, asi zvakakosha kuziva nezvazvo, zvatichataura nezvazvo nhasi iMcCune-Albright Syndrome.

Chii chinonzi McCune-Albright Syndrome?

Zvichitaurwa zviri nyore, chirwere cheMcCune-Albright chirwere chinokonzerwa nemajini. Chinonyanya kukanganisa mapfupa emwana, ganda, uye endocrine system, kana mahormone anogadzira mahormone . Chirwere ichi chinogona kukonzera mavanga emapfupa (atinodaidza kuti "fibrous dysplasia"). Chinokonzerawo mavara akasiyana-siyana (pigmentation) paganda, uye mamwe mahormone anodzora kukura kwemasero anoita basa rakawandisa.

Rangarirai kuti vamwe vana vanogona kunge vasina chirwere ichi zvakanyanya, vaine zviratidzo zvishoma. Zvisinei, kune vamwe, chinogona kunge chakanyanya kuipa, dzimwe nguva chichitoisa upenyu pangozi. Saka zvakakosha kuziva izvi.

Ndiani anonyanya kukanganiswa nemamiriro ezvinhu aya?

Chirwere cheMcCune-Albright chinokonzerwa nekuchinja kwemajini kutsva . Izvi zvinoreva kuti hachisi chinhu chinogarwa nhaka kubva kuvabereki kuenda kuvana. Hatigone kufanotaura kuti kuchinja kwemajini uku kuchaitika riini uye sei. Kazhinji, kuchinja kwemajini uku kunoitika mushure mekubata pamuviri/kubereka, apo mwana anonambwa mudumbu raamai, nekuda kwekukanganisa mukupatsanurwa kwemasero uye kuberekana.

Yeuka izvi: Kuchinja kwemajini uku hakukonzerwi nechinhu chero chipi zvacho chakaitwa kana chisina kuitwa nevabereki panguva yekuzvitakura. Saka usazvidya mwoyo nazvo.

Dambudziko iri rakajairika zvakadii?

Kutaura zvazviri, chirwere cheMcCune-Albright chirwere chisingawanzoitiki. Pasi rose, zvinofungidzirwa kuti chirwere ichi chinoitika muvana vanosvika zana rezviuru kana miriyoni imwe chete vanozvarwa . Saka, hachisi chinhu chinowanzoonekwa kakawanda.

McCune-Albright Syndrome inokanganisa sei muviri wemwana?

Dambudziko iri rinogona kukanganisa muviri wemwana nenzira dzakasiyana-siyana. Zvikuru sei, rinogona kukanganisa kukura kwemapfupa uye mashandiro ehurongwa hwe endocrine (hormone system), izvo zvinogona kukanganisa kureba nehuremu hwemwana .

Uyewo, unogona kuona mavara matema akasiyana paganda remwana wako (anonzi "café-au-lait spots"). Chimwe chinhu chakakosha ndechekuti vamwe vanaKuratidza zviratidzo zvekuyaruka pazera diki kwazvo.

Kana uchifunga kuti mwana wako ari kunetseka kukura zvakanaka nekuda kwezviratidzo izvi, zvakakosha kuti utsvage mazano echiremba nekukasika. Chiremba achapa hurongwa hwekurapa hwakanangana nemwana wako uye huchabatsira kudzora zviratidzo.

Ndezvipi zviratidzo zveMcCune-Albright Syndrome?

Zviratidzo zvechirwere ichi zvinonyanya kuonekwa mumapfupa, ganda, uye endocrine system (hormone system) . Zvisinei, zviratidzo izvi hazvionekwi nenzira imwechete kana nekuoma kwakafanana mumwana wese. Zvinogona kusiyana kubva pamwana mumwe kuenda kune mumwe.

Zviratidzo zvemapfupa

Chinhu chikuru uye chinowanzoonekwa pamapfupa panyaya iyi chirwere chinonzi ``fibrous dysplasia.'' Zvichitaurwa zviri nyore, apa ndipo panokura mavanga mukati memapfupa panzvimbo pemapfupa ane hutano. Saka, mwana paanokura, nzvimbo dzine mavanga aya dzinova dzisina simba. Izvi zvinogona kukonzera kutyoka, kana kuti mapfupa anogona kukura zvisina kurongeka uye akaremara . Zvichienderana nehuwandu hwemapfupa akanganiswa, chirwere ichi che``fibrous dysplasia'' chinogona kunge chisina kusimba mune vamwe vanhu uye chakakomba mune vamwe.

Chimwe chinhu ndechekuti, kashoma, zvichireva kuti vanhu vari pasi pe1% vane chirwere ichi, "fibrous dysplasia" iyi inogona kukonzera kenza yemaronda/mabundu mumapfupa. Hazviwanzoitiki, asi zvakanaka kuziva nezvazvo.

Zvimwe zviratidzo zvine chekuita nemapfupa zvinosanganisira:

• Kukura kwemapfupa echiso asina kuenzana.
• Kurwadziwa kwemapfupa uye kusagadzikana.
• Kutadza kufamba kana kufamba (Kutadza kufamba).
• Zvirwere zvinoderedza simba remapfupa, zvakaita se 'Rickets' kana 'osteomalacia'.
• Kurwara neScoliosis.
• Mupfupi.
• Kukura kwemapfupa mumakumbo kusina kuenzana (izvi zvinogona kukonzera kufamba uchikamhina).

Zviratidzo zveganda

Vamwe vana vanozvarwa neMcCune-Albright syndrome vane ruvara rweganda rwakasiyana nedzimwe nzvimbo dzeganda ravo. Mavara aya anogona kusiyana kubva pabrown yakapfava kusvika pabrown yakasviba . Anewo miganhu yakakombama. Aya anonzi mapoinzi ecafé-au-lait. Anogona kungoonekwa kune rumwe rutivi rwemuviri. Mwana paanokura, mavara aya anogona kuwedzera kuoneka uye anogona kuwedzera.

Zviratidzo zvehurongwa hwe endocrine

Dambudziko iri rinogona kukanganisa endocrine system yemwana, iyo inogadzira mahormone. Nekuda kweizvozvo, vana vanogona kuratidza zviratidzo zvekuyaruka vachiri vadiki . Vasikana kunyanya vanogona kutanga kuenda kumwedzi vachiri vadiki vane makore maviri.Izvi zvinoitika nekuti ma cysts ari mumazai avo anogadzira estrogen yakawandisa, hormone yechikadzi. Vakomana vanogonawo kuona zviratidzo izvi zvekutanga zvekuyaruka.

Vanhu vanosvika 50% vane McCune-Albright syndrome vane thyroid gland yakakura . Kana thyroid gland ikakura, inoburitsa thyroid hormone yakawandisa. Chirwere ichi chinonzi hyperthyroidism. Izvi zvinogona kukonzera zviratidzo zvakaita sekurova kwemoyo nekukurumidza, kudikitira zvakanyanya, BP yakakwira, uye kudzikira kwehuremu .

Zvimwe zviratidzo zvine chekuita nehurongwa hwe endocrine zvinosanganisira:

• Kugadzirwa kwakanyanya kwemahormone ekukura negland repituitary. Izvi zvinogona kukonzera makumbo akakura, chitarisiko chechiso chakatenderera, uye/kana zvirwere zvakaita searthritis (acromegaly).
• Ma "adrenal glands" anogadzira hormone inonzi cortisol yakawandisa. Izvi zvinogona kukonzera chirwere chinonzi Cushing's syndrome, chinoratidzwa nekufutisa uye kunonoka kukura.

Chikonzero cheizvi chii?

Chirwere cheMcCune-Albright chinokonzerwa nekuchinja kwemajini eGNAS1. Jini reGNAS1 rinogadzira mapuroteni anodzora mashandiro emahormone. Saka, kana paine kuchinja kwemajini aya, enzyme inonzi adenylate cyclase (inonziwo protein) inotanga kugadzira mahormone akawandisa. Ndicho chikonzero chezviratidzo izvi.

Chinhu chakakosha ndechekuti kuchinja kwemajini uku kuitike mushure mekunge mwana abatwa mudumbu raamai vake (somatic mutation). Kureva kuti, ichi hachisi chirwere chinogara nhaka kubva kuvabereki kuenda kumwana. Izvi hazvisi nekuda kwemhosva yaamai kana baba, kana chimwe chinhu chavakaita kana chavasina kuita panguva yekuzvitakura. Zvakare, hapana nyaya dzakasimbiswa dzekuti munhu ane McCune-Albright syndrome ane mwana ane chirwere chimwe chete. Chikonzero chaicho che "somatic mutation" iyi hachisati chawanikwa. Tsvagiridzo inoratidza kuti izvi zviitiko zvisingatarisirwi, zvinongoerekana zvaitika.

Chirwere ichi chinoonekwa sei?

Chirwere cheMcCune-Albright chinowanzoonekwa muhudiki. Chiremba anoongorora mwana uye otarisa kusarongeka kwehurongwa hwe endocrine, maronda eganda akadai se "café-au-lait spots" uye "fibrous dysplasia". Kuongororwa kwacho kunowanzoitwa mushure mekunge zviratidzo zvekuyaruka kana kukura kwemapfupa kusina kujairika zvaonekwa.

Ndedzipi mhando dzebvunzo dzinoitwa pakuita izvi?

Miedzo yekuongorora chirwere ichi inosanganisira:

• Kuongororwa kweropa: Tarisa mashandiro ehurongwa hwe endocrine (hurongwa hwemahormone).
• Kuongororwa kwemajini:Ziva kuti chii chiri kukonzera zviratidzo zvemuviri wako. Izvi zvinowanzosanganisira kutora sampuli diki (biopsy) yeganda kana imwe nyama woiedza.
• Miedzo yekufungidzira: Miedzo yakaita seX-ray inoitwa kuti iongorore kukura kwemapfupa.

Inorapwa sei?

Kurapwa kweMcCune-Albright syndrome kunosiyana kubva pamunhu kusvika pamunhu. Hapana mushonga wechirwere ichi. Chinangwa chikuru chekurapa ndechekuderedza nekudzora zviratidzo.

Zvinotevera zvinogona kuitwa sekurapa:

• Mishonga yekurapa matambudziko ekukura kwemapfupa, akadai se bisphosphonates, inoderedza njodzi yekutyoka kwemapfupa.
• Mishonga yekudzora kuyaruka kwepakutanga, semuenzaniso, mishonga inodzivirira aromatase.
• Mishonga yechirwere che `hyperthyroidism`, semuenzaniso `antithyroids`.
• Kurapa kwemuviri uye kurapwa kwebasa zviripo kune matambudziko ekufamba-famba.
• Kuvhiyiwa kwematambudziko ekukura kwemapfupa, kunyanya fibrous dysplasia.

Ndingaderedza here njodzi yekuti mwana wangu awane chirwere ichi?

Sezvatakambokurukura, chirwere cheMcCune-Albright chinokonzerwa nekuchinja kwemajini. Saka, hapana chatingaita kuti chisaitike.

Kana uri kutarisira mwana, zvakanaka kutaura nachiremba wako nezvemazano ezvemajini kuti uzive kana uri panjodzi yemamwe matambudziko ezvemajini. Zvisinei, chirwere ichi, McCune-Albright syndrome, hachisi chinhu chinogona kudzivirirwa pachine nguva.

Kana mwana wangu aine chirwere ichi, chii chandinofanira kutarisira?

Kufanotaura kuti mwana wako acharwara kunoenderana nekuoma kwechirwere. Zvisinei, vanhu vazhinji vanorarama hupenyu hwakajairika. Chikwata chenyu chekurapa chichakubatsirai kuwana mushonga wakanakisisa wekubatsira kuderedza zviratidzo zvemwana wenyu uye kuderedza kusagadzikana kwake.

Mwana wako anogona kunge ari mupfupi zvishoma pane vamwe vezera rake nekuti ma "growth plates" anovhara nekukurumidza nekuda kwekukura kwake. Zvisinei, kana chirwere ichi chikaonekwa uye chikarapwa nekukurumidza, pane mukana mukuru wekuti kuchinja uku kwekukura kunogona kunonoka.

Zvakakosha kuti mwana wako arambe achikura zvakanaka kuitira kuti uve nechokwadi chekuti ari kukura zvakanaka.

Pane mukana mudiki wekuti mwana wako awane gomarara nekuda kwechirwere ichi, saka zvakakosha kuti mwana wako aende kunoongororwa nachiremba nguva nenguva.

Zvikuru sei, vakadzi vane McCune-Albright syndrome vari panjodzi yakakura yekubatwa nekenza yemazamu vachiri vadiki kupfuura zvavaimboita, saka zvakakosha kutaura nachiremba wako nezveizvi uye kuwana bvunzo dzinokurudzirwa.

Ndinofanira kuona chiremba nguvai?

Kana mwana wako achiratidza zviratidzo zveMcCune-Albright syndrome, ona chiremba. Semuenzaniso:

• Kugara uchinetseka, kushanda nesimba zvakanyanya, kungoerekana watsamwa, uye kushaya hope (izvi zvinogona kuva zviratidzo zve hyperthyroidism).
• Kuchinja kwechimiro chemapfupa nekuda kwekusagadzikana kwekukura kwemapfupa.
• Kuomerwa nekufamba.
• Kuenda kumwedzi kunotanga pazera diki kwazvo.
• Kurwadziwa kwakanyanya mumapfupa.

Njodzi! Kana uchifunga kuti mwana wako ane pfupa rakatyoka (semuenzaniso, kurwadziwa, kuzvimba, kutadza kufamba kana kutakura uremu, mavanga), enda kuchipatara nekukurumidza.

Mibvunzo ipi yaunofanira kubvunza chiremba?

Kana wangoziva kuti mwana wako ane chirwere ichi, zvingabatsira kubvunza chiremba mibvunzo yakaita seiyi:

• Mwana wangu anoda mushonga wekuderedza zviratidzo zvake here?
• Mwana wangu achada kuvhiyiwa here kana aine fibrous dysplasia?
• Pane migumisiro yakaipa here pamishonga inopiwa mwana wangu yekudzora zviratidzo?

Kuziva kuti mwana wako ane chirwere chemajini chisingawanzoitiki kunogona kunetsa vabereki vatsva. Asi yeuka, kuongororwa nekukurumidza uye kurapwa kunogona kubatsira mwana wako kuti atsungirire zviratidzo. Chiremba wako anogonawo kukukurudzira kuti uone mupi wezano wemajini, nyanzvi yemajini. Vanogona kukubatsira kunzwisisa chirwere chacho zviri nani uye kukupa rutsigiro rwemanzwiro rwaunoda. Vanogonawo kukutungamira pamatanho aungatora kuti ubatsire mwana wako kurarama hupenyu hune hutano uye hunogutsa.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Chirwere cheMcCune-Albright chirwere chisingawanzoitiki, asi chinogona kunge chakakomba mumajini.

• Izvi zvinokanganisa mapfupa, ganda, uye mahormone system .
• Zviratidzo zvikuru zvinosanganisira ``fibrous dysplasia`` (ganda rine mavanga mumapfupa), ``café-au-lait spots`` (mavara matsvuku paganda), uye kutanga kuyaruka.
• Ichi hachisi chinhu chakagarwa nhaka kubva kuvabereki; ikushanduka kwemajini kuchangobva kuitika.
• Kunyange zvazvo pasina mushonga wakakwana, kune mishonga yakanaka yekudzora zviratidzo.
• Kuongororwa kwechirwere nekukurumidza uye kurapwa, pamwe nekuongororwa nachiremba nguva dzose, zvakakosha zvikuru.
• Hausi wega; tsvaga rubatsiro kubva kuna vanachiremba nevapi vemazano ezvemajini.

Ndinovimba ruzivo urwu rwakubatsira kunzwisisa chirwere ichi. Yeuka, kana uine kusava nechokwadi, usambozeza kutaura nachiremba.

` McCune-Albright Syndrome, zvirwere zvemajini, zvirwere zvemapfupa, fibrous dysplasia, mavanga eganda, nzvimbo dzecafe-au-lait, matambudziko emahormone, kutanga kuyaruka, fibrous dysplasia, nzvimbo dzecafe-au-lait, endocrine system