Chii chinonzi Toulouse-Lautrec Syndrome?

Zvemukati

• Chii chinokonzera?
• Ndezvipi zviratidzo?
• Inoonekwa sei?
• Kurapa nzira
• Ndeapi maonero?

Mhedziso

Toulouse-Lautrec syndrome chirwere chisingawanzoitika pamajini chinofungidzirwa kuti chinokanganisa munhu mumwe muvanhu 1.7 miriyoni pasi rese. Pave paine chete mazana maviri emakesi akatsanangurwa mumabhuku.

Toulouse-Lautrec syndrome yakatumidzwa zita remunyori anozivikanwa wechiFrench wezana ramakore rechi19 Henri de Toulouse-Lautrec, uyo anofungidzirwa kuti anga aine chirwere ichi. Iyo syndrome inozivikanwa kiriniki se pycnodysostosis (PYCD). PYCD inokonzeresa mapfupa, pamwe nekukanganisika kwechiso, maoko, uye zvimwe zvikamu zvemuviri.

Chii chinokonzera?

Kuchinja kwemajini kunotora enzyme cathepsin K (CTSK) pane chromosome 1q21 inokonzeresa PYCD. Cathepsin K inoita basa rakakosha mukugadzirisa mapfupa. Kunyanya, inoputsa collagen, puroteni inoita se scaffolding yekutsigira zvicherwa senge calcium uye phosphate mumapfupa. Iyo geneti mutation inokonzeresa Toulouse-Lautrec syndrome inotungamira kune inovakwa ye collagen uye yakaoma kwazvo, asi brittle, mapfupa.

PYCD chirwere che autosomal recessive. Izvi zvinoreva kuti munhu anofanirwa kuzvarwa aine makopi maviri echisimba geni rechirwere kana hunhu hwepanyama kuti uvake. Majini anopfuudzwa pasi ari maviri. Unowana imwe kubva kuna baba vako uye imwe kuna amai vako. Kana ivo vaviri vabereki vaine rimwe geni rakachinja, izvo zvinovaita vatakuri. Zviitiko zvinotevera zvinogoneka kuvana vekubereka vevatakuri vaviri:

• Kana mwana akagara nhaka yechinjo yakachinjika uye rimwe geni risina kukanganiswa, naivowo vanozova mutakuri, asi havangaite chirwere (makumi mashanu muzana mukana).
• Kana mwana akagara nhaka yechinjo yakachinjika kubva kuvabereki vese, vanozove nechirwere (25 muzana mukana).
• Kana mwana akagara nhaka isina kukanganisika geni kubva kuvabereki vaviri, ivo havazove anotakura uye havazove nechirwere (25 muzana mukana).

Ndezvipi zviratidzo?

Dense, asi brittle, mapfupa ndicho chiratidzo chikuru chePYCD. Asi pane zvakawanda zvimwe zvinooneka zvinooneka zvinogona kusimuka zvakasiyana muvanhu vane chirwere ichi. Pakati pavo pane:

• pakakwirira pahuma
• nzara dzisina kujairika uye zvigunwe zvipfupi
• rakamanikana padenga remuromo
• zvigunwe zvidiki
• chipfupi, kazhinji iine trunk-yakakura kukura uye makumbo mapfupi
• kufema zvisina kujairika maitiro
• chiropa chakawedzerwa
• kuoma nemaitiro epfungwa, asi huchenjeri husingawanzo kukanganiswa

Nekuti PYCD chirwere chekupfupisa-pfupa, vanhu vane mamiriro acho vanotarisana nenjodzi yakanyanya kudonha nekutyoka. Matambudziko anokonzerwa nekutsemuka anosanganisira kudzikisira kufamba. Iko kusakwanisa kurovedza muviri nguva dzose, nekuda kwekutyoka kwepfupa, kunogona kukanganisa huremu, kugwinya kwemoyo, uye hutano hwakakwana.

Inoonekwa sei?

Kuongorora Toulouse-Lautrec syndrome inowanzoitwa muhucheche. Nemhaka yekuti chirwere ichi hachiwanzoitika, zvakadaro, dzimwe nguva zvinogona kuomera chiremba kuti aongorore zvakanaka. Kuongorora kwepanyama, nhoroondo yezvokurapa, uye kuyedzwa kwerabhoritari zvese chikamu cheichi chiitiko. Kuwana nhoroondo yemhuri kunonyanya kubatsira, sezvo kuvapo kwePDCD kana mamwe mamiriro enhaka kunogona kubatsira kutungamira kuferefeta kwachiremba.

X-ray inogona kunyanya kuratidza nePYCD. Iyi mifananidzo inogona kuratidza hunhu hwemapfupa anoenderana nezviratidzo zvePYCD.

Molecular genetic test inogona kusimbisa kuongororwa. Nekudaro, chiremba anoda kuziva kuti aongorore geni reCTSK. Kuongororwa kweiyo geni kunoitwa kumalabhoritari akasarudzika, nekuti kashoma-kanoitwa mageneti bvunzo.

Kurapa nzira

Kazhinji timu yenyanzvi inobatanidzwa mukurapa kwePDD. Mwana ane PYCD achave neboka rezvehutano rinosanganisira chiremba wevana, chiremba wemapfupa (nyanzvi yemapfupa), pamwe chiremba wechiremba, uye pamwe endocrinologist uyo anonyanya kugadzirisa kusagadzikana kwehomoni. (Kunyangwe PYCD isiri yakanangana nedambudziko rehomoni, mamwe marapirwo ehomoni, akadai sekukura kwehomoni, anogona kubatsira nezviratidzo.)

Vakuru vane PYCD vanozove nehunyanzvi hwakafanana mukuwedzera kune wavo wekutanga wekuchengeta chiremba, uyo angango tarisa kuchengetwa kwavo.

PYCD kurapwa kunofanirwa kuve yakagadzirirwa zviratidzo zvako. Kana denga remuromo wako rakatetepa kuitira kuti hutano hwemeno ako uye kuruma kwako kukanganisike, saka chiremba wemazino, orthodontist, uye pamwe chiremba wekurapa anonongedza kutarisirwa kwako kwemazino. Chiremba anovhiya anokwanisa kuunzwa kuti abatsire nezviratidzo zvechiso.

Kuchengetwa kwechiremba wemapfupa uye chiremba wemabhonzo kuchanyanya kukosha muhupenyu hwako hwese. Kuva neToulouse-Lautrec syndrome zvinoreva kuti ungangove uine akawanda mapfupa akatsemuka. Aya anogona kunge ari mabhureki akajairika anoitika nekudonha kana kumwe kukuvara. Izvo zvinogona zvakare kuve kusagadzikana kuputsika kunoitika nekufamba kwenguva.

Munhu ane mitswe yakawanda munzvimbo imwechete, senge tibia (shinbone), anogona dzimwe nguva kuve nenguva yakaoma yekuonekwa kuti ane kusagadzikana kwekutambudzika nekuti pfupa rinosanganisira mitsara yakawanda yekutyoka kubva pamabhureki apfuura. Dzimwe nguva munhu ane PYCD kana chero imwe brittle bone mamiriro anoda tsvimbo yakaiswa mune rimwe kana makumbo maviri.

Kana chirwere ichi chikaonekwa mumwana, kukura kwehomoni kurapwa kungave kwakakodzera. Chimiro chipfupi chiitiko chakajairika chePYCD, asi mahormone ekukura akanyatso tariswa neanogadzira endocrinologist anogona kubatsira.

Kumwe kutsvagurudza kunokurudzira kunosanganisira kushandiswa kwe enzyme inhibitors, iyo inokanganisa chiitiko chema enzymes anogona kukuvadza hutano hwepfupa.

Kuvimbisa kutsvagirisa kunosanganisirawo kugadziriswa kweimwe geni basa. Chimwe chishandiso cheichi chinozivikanwa seClustered Regularly Interspaced Palindromic Repeats (CRISPR). Inosanganisira kugadzirisa genome yesero mhenyu. CRISPR tekinoroji nyowani uye iri kudzidziswa mukurapa kwakawanda kwakagara nhaka mamiriro. Hazvina kujeka parizvino kuti inogona kuve nzira yakachengeteka uye inoshanda yekurapa PYCD.

Ndeapi maonero?

Kugara ne pycnodysostosis kunoreva kuita kuwanda kwemaitiro ekurarama. Vana nevakuru vane chirwere havafanirwe kutamba mitambo yekubatana. Kushambira kana kuchovha bhasikoro kungava dzimwe nzira dziri nani, nekuda kwenjodzi yakaderera yekutyoka.

Kana iwe uine pycnodysostosis, iwe unofanirwa kutaurirana nemumwe wako tarisiro yekugona kupfuudza geni kumwana wako. Mumwe wako anogona zvakare kuda kuongororwa magene kuti aone kana ari mutakuri. Kana ivo vasiri mutakuri, haugone kupfuudza mamiriro acho pachawo kuvana vako vekubereka. Asi sezvo uine makopi maviri eiyo mutated gene, chero mwana wekubereka wauinaye achagara nhaka imwe yeaya makopi uye otomatiki ave anotakura. Kana mumwe wako ari mutakuri uye iwe uine PYCD, mukana wekuti mwana wekubereka agare nhaka magene maviri akachinjika uye nekudaro kuve nemamiriro acho pachawo kunokwira kusvika makumi mashanu muzana.

Kuve neToulouse-Lautrec syndrome chete hazvireve kukanganisa tarisiro yehupenyu. Kana iwe uine hutano hwakanaka, iwe unofanirwa kugona kurarama hupenyu huzere, uine mamwe matanho uye kuenderera kubatanidzwa kwechikwata chevashandi vehutano.