Yintoni iToulouse-Lautrec Syndrome?

Umxholo

• Ibangelwa yintoni?
• Ziintoni iimpawu?
• Kufunyaniswa njani?
• Izinketho zonyango
• Yintoni imbonakalo?

Ushwankathelo

Isifo i-Toulouse-Lautrec sisifo esinqabileyo semfuza esiqikelelwa ukuba sichaphazele malunga nesigidi esinye kwi-1.7 yabantu kwihlabathi liphela. Kukho iimeko ezingama-200 kuphela ezichazwe kuncwadi.

Isifo i-Toulouse-Lautrec sathiywa ngegama lomculi odumileyo wase-France wenkulungwane ye-19 uHenri de Toulouse-Lautrec, ekukholelwa ukuba unale ngxaki. Isifo esaziwa njengeklinikhi njenge-pycnodysostosis (PYCD). I-PYCD ibangela amathambo aqhekezayo, kunye nokungaqheleki kobuso, izandla kunye namanye amalungu omzimba.

Ibangelwa yintoni?

Ukutshintsha kohlobo olukhokelela kwi-enzyme i-cathepsin K (CTSK) kwi-chromosome 1q21 ibangela i-PYCD. UCathepsin K udlala indima ephambili kulungiso lwethambo. Ngokukodwa, iphula i-collagen, iprotein esebenza njengokukrala ukuxhasa iiminerali ezinje ngecalcium kunye nephosphate emathanjeni. Utshintsho kwimfuza olwenza i-Toulouse-Lautrec syndrome ikhokelele ekwakhiweni kwe-collagen kwaye ixinene kakhulu, kodwa ithambile, amathambo.

I-PYCD sisifo esibuhlungu esihamba sodwa. Oko kuthetha ukuba umntu kufuneka azalwe eneekopi ezimbini zohlobo olungaqhelekanga lwesifo okanye uphawu lomzimba ekufuneka luphuhlisiwe. Imfuza idluliswa ngababini. Ufumana enye kuyihlo kwaye enye kumama wakho. Ukuba bobabini abazali banelungu elinye eliguqukileyo, oko kubenza babe ngabaphetheyo. Ezi meko zilandelayo zinokubakho kubantwana bebhayoloji yenethiwekhi ezimbini:

• Ukuba umntwana uzuza njengelinye ifuzo eliguqukileyo kunye nofuzo olunye olungachaphazelekiyo, baya kuba sisiphatho, kodwa abayi kuba nasifo (ama-50 eepesenti amathuba).
• Ukuba umntwana uzuza njengelifa uguquko kubazali bobabini, uya kuba nesi sifo (ama-25 eepesenti amathuba).
• Ukuba umntwana uzuza njengelifa uhlobo olungachaphazelekanga kubazali bobabini, ngekhe abe sisiphatho kwaye akasayi kuba nesi sifo (iipesenti ezingama-25 zamathuba).

Ziintoni iimpawu?

I-Dense, kodwa i-brittle, amathambo ayimpawu eziphambili ze-PYCD. Kodwa zininzi izinto ezibonakalayo ezinokuphuhlisa ngokwahlukileyo kubantu abanemeko. Phakathi kwazo kukho:

• ibunzi eliphakamileyo
• iinzipho ezingaqhelekanga kunye neminwe emifutshane
• uphahla olumxinwa lomlomo
• iinzwane ezimfutshane
• Isiqu esifutshane, sihlala sinesiqu sabantu abadala kunye nemilenze emifutshane
• iipateni ezingaqhelekanga zokuphefumla
• isibindi esandisiweyo
• ubunzima kunye neenkqubo zengqondo, nangona ubukrelekrele bungahlali buchaphazeleka

Ngenxa yokuba i-PYCD sisifo esenza buthathaka amathambo, abantu abanemeko bajamelana nomngcipheko ophezulu wokuwa kunye nokwaphuka. Iingxaki ezivela kwiintanda zibandakanya ukunciphisa ukuhamba. Ukungakwazi ukuzilolonga rhoqo, ngenxa yokwaphuka kwamathambo, kunokuchaphazela ubunzima, impilo yomzimba kunye nempilo iyonke.

Kufunyaniswa njani?

Ukuchonga isifo seToulouse-Lautrec kuhlala kusenziwa ebusaneni. Ngenxa yokuba isifo sinqabile, nangona kunjalo, ngamanye amaxesha kunokuba nzima kugqirha ukwenza uxilongo olufanelekileyo. Uvavanyo lomzimba, imbali yezonyango, kunye neemvavanyo zaselebhu ziyinxalenye yenkqubo. Ukufumana imbali yosapho kuluncedo ngakumbi, kuba ubukho be-PYCD okanye ezinye iimeko ezizuzwe njengelifa kunokunceda ukukhokela uphando lukagqirha.

IX-reyi inokutyhila ngokukodwa nge-PYCD. Le mifanekiso inokubonisa iimpawu zamathambo ezihambelana neempawu zePYCD.

Ukuvavanywa kwemolekyuli yemfuza kunokuqinisekisa ukuxilongwa. Nangona kunjalo, ugqirha kufuneka azi ukuvavanya uhlobo lwe-CTSK. Ukuvavanywa kofuzo kwenziwa kwiilebhu ezikhethekileyo, kuba yinto enqabileyo eyenziwa uvavanyo lwemfuzo.

Izinketho zonyango

Ngokwesiqhelo iqela leengcali liyabandakanyeka kunyango lwe-PYCD. Umntwana one-PYCD uya kuba neqela lokhathalelo lwempilo olubandakanya ugqirha wabantwana, ugqirha wamathambo (ingcali yamathambo), mhlawumbi ugqirha wamathambo, kwaye mhlawumbi ugqirha we-endocrinologist ojolise kukuphazamiseka kwehomoni. (Nangona i-PYCD ingeyiyo ingxaki yamahomoni, unyango oluthile lwehomoni, olufana nokukhula kwehomoni, lunokunceda ngeempawu.)

Abantu abadala abane-PYCD baya kuba neengcali ezifanayo ukongeza kugqirha wabo wokunyamekela, oya kuthi alungelelanise ukhathalelo lwabo.

Unyango lwe-PYCD kufuneka luyilelwe iimpawu zakho ezithile. Ukuba uphahla lomlomo wakho luyacutheka ukuze impilo yamazinyo kunye nokulunywa kwakho kuchaphazeleke, ugqirha wamazinyo, ugqirha wamazinyo, kwaye mhlawumbi ugqirha womlomo angadibanisa ukhathalelo lwakho lwamazinyo. Ugqirha wezithambiso unokuziswa ukuze ancede naziphi na iimpawu zobuso.

Ukunyamekelwa ngugqirha wamathambo kunye nogqirha wamathambo kuya kubaluleke ngakumbi ebomini bakho bonke. Ukuba ne-Toulouse-Lautrec syndrome kuthetha ukuba uya kuba neethambo ezininzi. Ezi zinokuba zikhefu eziqhelekileyo ezenzeka ngokuwa okanye enye inzakalo. Banokuba noxinzelelo lokwephuka okuphuhla ngokuhamba kwexesha.

Umntu onamaqhekeza amaninzi kwindawo enye, njenge-tibia (shinbone), ngamanye amaxesha unokuba nexesha elinzima lokuchongwa ukuba unengxaki yoxinzelelo lwethambo kuba ithambo liya kubandakanya imigca yokuqhekeka okuninzi ukusuka kwikhefu elidlulileyo. Ngamanye amaxesha umntu one-PYCD okanye nayiphi na imeko yethambo elingenantlonelo uyakufuna intonga ebekwe kwimilenze yomibini okanye yomibini.

Ukuba esi sifo sifunyenwe emntwaneni, unyango lwehommone yokukhula lunokulunga. Isiqu esifutshane sisiphumo esiqhelekileyo se-PYCD, kodwa ukukhula kwamahomoni okujongwa ngononophelo ngugqirha wezifo zengqondo kunokuba luncedo.

Olunye uphando olukhuthazayo lubandakanya ukusetyenziswa kwee-enzyme inhibitors, eziphazamisa ukusebenza kwee-enzymes ezinokonakalisa impilo yethambo.

Uphando oluthembisayo lukwabandakanya ukwenziwa komsebenzi othile wofuzo. Esinye sezixhobo saziwa ngokuba siHlanganisiweyo esiQinisekisiweyo esiQhele esiPhakathi sePalindromic (CRISPR). Kubandakanya ukuhlela i-genome yeseli ephilayo. I-CRISPR yitekhnoloji entsha kwaye iyafundwa kunyango lweemeko ezininzi ezizuzwe njengelifa. Akucaci okwangoku nokuba ingaba yindlela ekhuselekileyo nesebenzayo yokunyanga i-PYCD.

Yintoni imbonakalo?

Ukuphila ne-pycnodysostosis kuthetha ukwenza uhlengahlengiso kwindlela yokuphila. Abantwana kunye nabantu abadala abanemeko akufuneki badlale imidlalo yokunxibelelana. Ukuqubha okanye ukukhwela ibhayisikile kunokuba zezinye iindlela ezingcono, ngenxa yomngcipheko ophantsi wokuqhekeka.

Ukuba une-pycnodysostosis, kuya kufuneka uxoxe neqabane lakho ngamathemba okugqithisela uhlobo lomntwana wakho. Iqabane lakho lisenokufuna ukwenza uvavanyo lwemfuzo ukubona ukuba bangumphathi na. Ukuba ayingomntu ophetheyo, ngekhe udlulise imeko ngokwakho kubantwana bakho bendalo. Kodwa ekubeni uneekopi ezimbini zemfuza eguqulweyo, nawuphi na umntwana omzalayo uya kulidla ilifa enye yezi kopi kwaye ngokuzenzekelayo abe ngumthwali. Ukuba iqabane lakho liphethe into kwaye liphethe i-PYCD, amathuba okuba umntwana ophilayo azuze njengelifa izakhi zofuzo ezimbini eziguqulweyo kwaye ke imeko inye inyuke iye kwiipesenti ezingama-50.

Ukuba ne-Toulouse-Lautrec syndrome iyodwa ayichaphazeli ubude bexesha lokuphila. Ukuba ngenye indlela usempilweni, kuya kufuneka ukwazi ukuphila ubomi obugcweleyo, kunye nezinye izilumkiso kunye nokuzibandakanya okuqhubekayo kweqela labasebenzi bezempilo.