Kodi Toulouse-Lautrec Syndrome Ndi Chiyani?

Zamkati

• Zimayambitsa chiyani?
• Zizindikiro zake ndi ziti?
• Kodi amapezeka bwanji?
• Njira zothandizira
• Maganizo ake ndi otani?

Chidule

Matenda a Toulouse-Lautrec ndi matenda osowa omwe amabwera pafupifupi 1 miliyoni 1.7 padziko lonse lapansi. Pakhala milandu 200 yokha yofotokozedwa m'mabuku.

Matenda a Toulouse-Lautrec adatchulidwa ndi wojambula waku France wazaka za m'ma 1800 a Henri de Toulouse-Lautrec, omwe amakhulupirira kuti anali ndi matendawa. Matendawa amadziwika kuti pycnodysostosis (PYCD). PYCD imayambitsa mafupa osweka, komanso zovuta za nkhope, manja, ndi ziwalo zina za thupi.

Zimayambitsa chiyani?

Kusintha kwa jini komwe kumayambitsa enzyme cathepsin K (CTSK) pa chromosome 1q21 kumayambitsa PYCD. Cathepsin K amatenga gawo lofunikira pakusintha mafupa. Makamaka, imaphwanya collagen, protein yomwe imagwira ntchito ngati katawala yothandizira mchere monga calcium ndi phosphate m'mafupa. Kusintha kwa majini komwe kumayambitsa matenda a Toulouse-Lautrec kumabweretsa kuchuluka kwa collagen komanso kofewa, koma kophulika, mafupa.

PYCD ndimatenda osokoneza bongo. Izi zikutanthauza kuti munthu ayenera kubadwa ali ndi mitundu iwiri ya jini yachilendo kuti matendawa akhalepo. Matendawa amapatsidwa awiriawiri. Mumalandira imodzi kuchokera kwa abambo anu ndipo imodzi kuchokera kwa amayi anu. Ngati makolo onse ali ndi jini imodzi yosintha, zimawapangitsa kukhala onyamula. Zochitika zotsatirazi ndizotheka kwa ana obadwa a onyamula awiri:

• Ngati mwana adzalandira mtundu umodzi wosinthika komanso jini imodzi yosakhudzidwa, amathanso kukhala onyamula, koma sangakhale ndi matendawa (50% mwayi).
• Ngati mwana adzalandira cholowa kuchokera kwa makolo onse, adzakhala ndi matendawa (25% mwayi).
• Ngati mwana adzalandira cholowa chosakhudzidwa kuchokera kwa makolo onse awiri, sangakhale wonyamula kapena kukhala ndi matendawa (25% mwayi).

Zizindikiro zake ndi ziti?

Mafupa owirira, koma owuma, ndiye chizindikiro chachikulu cha PYCD. Koma palinso zina zambiri zakuthupi zomwe zimatha kukhala mosiyana mwa anthu omwe ali ndi vutoli. Zina mwa izo ndi izi:

• mkulu pamphumi
• zikhadabo zachilendo ndi zala zazifupi
• denga lochepa pakamwa
• zala zazifupi
• wamfupi msinkhu, nthawi zambiri wokhala ndi thunthu lamunthu wamkulu komanso miyendo yayifupi
• kupuma modabwitsa
• kukulitsa chiwindi
• Kuvuta ndi malingaliro, ngakhale nzeru sizimakhudzidwa nthawi zambiri

Chifukwa PYCD ndimatenda ofooketsa mafupa, anthu omwe ali ndi vutoli amakhala pachiwopsezo chachikulu chogwa ndikuphwanya. Zovuta zomwe zimadza chifukwa chaphwanya zimaphatikizaponso kuchepa kwa kuyenda. Kulephera kuchita masewera olimbitsa thupi pafupipafupi, chifukwa cha kuphwanya kwa mafupa, kumatha kukhudza kulemera, kulimbitsa thupi, komanso thanzi.

Kodi amapezeka bwanji?

Kuzindikira matenda a Toulouse-Lautrec nthawi zambiri kumachitika akadali makanda. Chifukwa matendawa ndi osowa, komabe, nthawi zina zimakhala zovuta kuti dokotala apeze matenda oyenera. Kuyezetsa thupi, mbiri yazachipatala, ndi kuyesa kwa labotale zonse ndi mbali ya njirayi. Kupeza mbiri ya banja ndikothandiza makamaka, popeza kupezeka kwa PYCD kapena zinthu zina zobadwa nazo kumatha kuthandizira kuwunika kwa dokotala.

X-ray imatha kuwulula makamaka ndi PYCD. Zithunzi izi zitha kuwonetsa mawonekedwe am'mafupa omwe amagwirizana ndi zizindikiritso za PYCD.

Kuyesedwa kwa majini am'magazi kumatsimikizira kuti ali ndi matenda. Komabe, adotolo amafunika kudziwa kuti ayese mtundu wa CTSK. Kuyesa kwa jini kumachitika kuma laboratories apadera, chifukwa ndimayeso omwe samachitika kawirikawiri.

Njira zothandizira

Nthawi zambiri gulu la akatswiri limachita nawo chithandizo cha PYCD. Mwana yemwe ali ndi PYCD adzakhala ndi gulu lazachipatala lomwe limaphatikizapo dokotala wa ana, orthopedist (mafupa a mafupa), mwina wochita opaleshoni ya mafupa, ndipo mwina katswiri wazamaphunziro yemwe amakhala ndi vuto la mahomoni. (Ngakhale PYCD siyimatenda a mahomoni makamaka, mankhwala ena am'madzi, monga kukula kwa mahomoni, amatha kuthandiza ndi zizindikilo.)

Akuluakulu omwe ali ndi PYCD adzakhala ndi akatswiri ofanana kuwonjezera pa dokotala wawo wamkulu, yemwe angayang'anire chisamaliro chawo.

Chithandizo cha PYCD chiyenera kupangidwira zizindikiritso zanu. Ngati pakamwa panu pakuchepa kuti thanzi la mano ndi kuluma kwanu likhudzidwe, ndiye kuti dotolo wamankhwala, orthodontist, ndipo mwina wochita opaleshoni pakamwa angayang'anire chisamaliro chanu cha mano. Dokotala wopanga zodzikongoletsera atha kubweretsedwa kuti athandizire kuzindikiritsa nkhope.

Chisamaliro cha sing'anga ndi opaleshoni ya mafupa chidzakhala chofunikira kwambiri pamoyo wanu wonse. Kukhala ndi matenda a Toulouse-Lautrec kumatanthauza kuti mwina mungakhale ndi mafupa angapo. Izi zitha kukhala zopumira zomwe zimachitika ndikugwa kapena kuvulala kwina. Zitha kukhalanso zopweteka zomwe zimachitika pakapita nthawi.

Munthu amene ali ndi ma fracture angapo m'dera lomwelo, monga tibia (shinbone), nthawi zina amatha kukhala ndi nthawi yovuta yopezeka kuti ali ndi zophulika chifukwa cha fupalo. Nthawi zina munthu yemwe ali ndi PYCD kapena vuto lililonse lamafupa amafunika ndodo yoyikidwa mu mwendo umodzi kapena mwendo wonse.

Ngati matendawa amapezeka mwa mwana, chithandizo cha kukula kwa mahomoni chitha kukhala choyenera. Kukula pang'ono ndi zotsatira zofala za PYCD, koma mahomoni okula omwe amayang'aniridwa mosamala ndi endocrinologist atha kukhala othandiza.

Kafukufuku wina wolimbikitsa akuphatikizapo kugwiritsa ntchito ma enzyme inhibitors, omwe amasokoneza zochita za michere yomwe imatha kuwononga thanzi la mafupa.

Kafukufuku wodalirika amaphatikizaponso kusokoneza kwa mtundu wina wa jini. Chida chimodzi cha izi chimadziwika kuti Clustered Regularly Interspaced Palindromic Repeats (CRISPR). Zimaphatikizira kukonza matupi athu a selo lamoyo. CRISPR ndiukadaulo watsopano ndipo akuwerengedwa pakuchiza zinthu zambiri zobadwa nazo. Sizikudziwika ngati ingakhale njira yabwino komanso yothandiza yochizira PYCD.

Maganizo ake ndi otani?

Kukhala ndi pycnodysostosis kumatanthauza kupanga masinthidwe angapo amoyo. Ana ndi akulu omwe ali ndi vutoli sayenera kusewera masewera olumikizirana. Kusambira kapena kupalasa njinga kungakhale njira zina zabwinoko, chifukwa cha kuchepa kwa ngozi.

Ngati muli ndi pycnodysostosis, muyenera kukambirana ndi mnzanu chiyembekezo chodzapatsira mwana wanu jini. Mnzanuyo angafunenso kukayezetsa majini kuti awone ngati ali wonyamula. Ngati siwonyamula, simungapereke vutoli kwa ana anu obadwa nawo. Koma popeza muli ndi makope awiri amtundu wosinthidwa, mwana aliyense wobadwa naye yemwe adzalandire imodzi mwazomwezi ndikukhala wonyamula. Ngati mnzanuyo ali wonyamula ndipo muli ndi PYCD, mwayi woti mwana wobadwa ali ndi majini awiri osinthika motero kukhala ndi vutoli kumakwera mpaka 50 peresenti.

Kukhala ndi Toulouse-Lautrec syndrome kokha sikungakhudze chiyembekezo cha moyo. Ngati mulibe thanzi labwino, muyenera kukhala ndi moyo wathunthu, mosamala komanso kutengapo gawo kwa akatswiri azachipatala.