Kuyini iToulouse-Lautrec Syndrome?

-Delile

• Kubangelwa yini?
• Ziyini izimpawu?
• Kutholakala kanjani?
• Izinketho zokwelashwa
• Uyini umbono?

Ukubuka konke

I-Toulouse-Lautrec syndrome yisifo esingajwayelekile sezakhi zofuzo okucatshangwa ukuthi sithinta cishe umuntu oyedwa kwabayisigidi esingu-1.7 emhlabeni jikelele. Kube khona amacala angama-200 kuphela achazwe ezincwadini.

I-Toulouse-Lautrec syndrome iqanjwe ngomculi odumile waseFrance wekhulu le-19 uHenri de Toulouse-Lautrec, okukholakala ukuthi ubenalesi sifo. Lesi sifo saziwa emtholampilo njenge-pycnodysostosis (PYCD). I-PYCD ibangela amathambo aqhekekile, kanye nokungajwayelekile kobuso, izandla, nezinye izitho zomzimba.

Kubangelwa yini?

Ukuguqulwa kofuzo olukhomba i-enzyme cathepsin K (CTSK) ku-chromosome 1q21 kubangela i-PYCD. UCathepsin K ubamba iqhaza elibalulekile ekuvuseleleni amathambo. Ikakhulu, yephula i-collagen, iphrotheni esebenza njengokufafaza ukuxhasa amaminerali afana ne-calcium ne-phosphate emathanjeni. Ukuguqulwa kwezakhi zofuzo okubangela i-Toulouse-Lautrec syndrome kuholela ekwakhiweni kwe-collagen futhi kuminyene kakhulu, kepha kunamathambo aminyene.

I-PYCD yisifo se-autosomal recessive. Lokho kusho ukuthi umuntu kufanele azalwe enamakhophi amabili esakhiweni esingajwayelekile ukuze athuthukise lesi sifo noma isici somzimba. Izakhi zofuzo zidluliselwa ngababili. Uthola eyodwa kubaba wakho futhi eyodwa kumama wakho. Uma bobabili abazali benofuzo olulodwa oluguqukile, lokho kubenza babe ngabathwali. Lezi zimo ezilandelayo zingenzeka ezinganeni zebhayoloji zabathwali ababili:

• Uma ingane izuza i-gene eyodwa eshintshiwe kanye nesakhi sofuzo esisodwa esingathinteki, nazo zingaba yisithwali, kodwa ngeke zisenze lesi sifo (amaphesenti angama-50 amathuba).
• Uma ingane izuza isakhi sofuzo esiguqukile kubo bobabili abazali, bayoba nalesi sifo (25% wamathuba).
• Uma ingane izuza ifa lofuzo olungathintekile kubo bobabili abazali, ngeke ibe yithwali futhi ngeke ibe nalesi sifo (amaphesenti angama-25 amathuba).

Ziyini izimpawu?

Amathambo aminyene, kodwa aqhekekile, uphawu oluyinhloko lwe-PYCD. Kepha kunezici eziningi zomzimba ezingakhula ngokuhlukile kubantu abanalesi simo. Phakathi kwazo kukhona:

• ibunzi eliphakeme
• izinzipho ezingajwayelekile neminwe emifushane
• uphahla oluncane lomlomo
• izinzwane ezimfushane
• isiqu esifushane, imvamisa ngesigunci esilingana nabantu abadala kanye nemilenze emifushane
• amaphethini angajwayelekile okuphefumula
• isibindi esikhulisiwe
• ubunzima ngezinqubo zengqondo, kepha ubuhlakani abuvame ukuthinteka

Ngenxa yokuthi i-PYCD iyisifo esinciphisa amathambo, abantu abanesimo babhekene nengozi enkulu kakhulu yokuwa nokuqhekeka. Izinkinga ezivela ekuqhekekeni zifaka phakathi ukuhamba okuncishisiwe. Ukwehluleka ukuzivocavoca njalo, ngenxa yokuqhekeka kwamathambo, kungathinta isisindo, ukuqina kwenhliziyo, kanye nempilo yonke.

Kutholakala kanjani?

Ukuhlonza i-Toulouse-Lautrec syndrome kuvame ukwenziwa ebuntwaneni. Ngoba lesi sifo siyivelakancane, noma kunjalo, kwesinye isikhathi kungaba nzima kudokotela ukuthola ukuxilongwa okulungile. Ukuhlolwa ngokomzimba, umlando wezokwelapha, kanye nokuhlolwa kwelabhorethri konke kuyingxenye yenqubo. Ukuthola umlando womndeni kusiza kakhulu, njengoba ukuba khona kwe-PYCD noma ezinye izimo ezizuzwe njengefa kungasiza ekuqondiseni uphenyo lukadokotela.

Ama-X-ray angavezwa ikakhulukazi nge-PYCD. Lezi zithombe zingabonisa izici zamathambo ezihambisana nezimpawu ze-PYCD.

Ukuhlolwa kofuzo kwamangqamuzana kungaqinisekisa ukuxilongwa. Kodwa-ke, udokotela udinga ukwazi ukuhlola isakhi sofuzo se-CTSK. Ukuhlolelwa isakhi zofuzo kwenziwa kumalabhorethri akhethekile, ngoba ukuhlolwa kofuzo okwenziwa ngokungajwayelekile.

Izinketho zokwelashwa

Imvamisa iqembu lochwepheshe libandakanyeka ekwelashweni kwe-PYCD. Ingane ene-PYCD izoba neqembu lezokunakekelwa kwezempilo elibandakanya udokotela wezingane, udokotela wamathambo (onguchwepheshe wamathambo), mhlawumbe udokotela ohlinzayo wamathambo, mhlawumbe nodokotela we-endocrinologist ogxile ekuphazamisekeni kwamahomoni. (Yize i-PYCD ingeyona inkinga ye-hormonal, izindlela ezithile zokwelapha zamahomoni, ezinjenge-hormone yokukhula, zingasiza ngezimpawu.)

Abantu abadala abane-PYCD bazoba nochwepheshe abafanayo ngaphezu kukadokotela wabo wokunakekelwa okuyisisekelo, okungenzeka ukuthi axhumanise ukunakekelwa kwabo.

Ukwelashwa kwe-PYCD kufanele kwenzelwe izimpawu zakho ezithile. Uma uphahla lomlomo wakho luncishisiwe ukuze impilo yamazinyo akho nokulunywa kwakho kuthinteke, khona-ke udokotela wamazinyo, udokotela wamazinyo, mhlawumbe nodokotela ohlinzayo womlomo bazoqondisa ukunakekelwa kwakho kwamazinyo. Udokotela ohlinzayo wezimonyo angalethwa ukusiza nganoma yiziphi izimpawu zobuso.

Ukunakekelwa kukadokotela wamathambo nodokotela wamathambo kuzobaluleke kakhulu kuyo yonke impilo yakho. Ukuba ne-Toulouse-Lautrec syndrome kusho ukuthi ungahle ube nokuhlukana kwamathambo amaningi. Lokhu kungaba ngamakhefu ajwayelekile avela ngokuwa noma okunye ukulimala. Kungaba futhi ukuphuka kwengcindezi okuthuthuka ngokuhamba kwesikhathi.

Umuntu onokuphuka okuningi endaweni efanayo, njenge-tibia (shinbone), kwesinye isikhathi angaba nesikhathi esinzima sokutholwa enezingcindezi zokucindezeleka ngoba ithambo lizofaka imigqa eminingana yokuqhekeka kusuka emakhefu edlule. Kwesinye isikhathi umuntu one-PYCD noma esinye isimo sesifuba esibuhlungu uzodinga induku ebekwe emlenzeni owodwa noma womabili.

Uma lesi sifo sitholakala enganeni, ukwelashwa kwe-hormone yokukhula kungahle kufanele. Isiqu esifushane siwumphumela ovamile we-PYCD, kepha ama-hormone okukhula agadwe ngokucophelela yi-endocrinologist angasiza.

Olunye ucwaningo olukhuthazayo lubandakanya ukusetshenziswa kwama-enzyme inhibitors, aphazamisa ukusebenza kwama-enzyme angalimaza impilo yethambo.

Ucwaningo oluthembisayo lufaka nokukhohliswa komsebenzi wesakhi esithile. Ithuluzi elilodwa lalokhu laziwa njenge-Clustered Regularly Interspaced Palindromic Repeats (CRISPR). Kubandakanya ukuhlela ufuzo lwengqamuzana ephilayo. I-CRISPR ubuchwepheshe obusha futhi ifundelwa ekwelapheni izimo eziningi ezizuzwe njengefa. Akukacaci okwamanje ukuthi kungaba yindlela ephephile nephumelelayo yokwelapha i-PYCD.

Uyini umbono?

Ukuphila ne-pycnodysostosis kusho ukwenza ukulungisa okuningi kwendlela yokuphila. Izingane kanye nabantu abadala abanesimo akufanele badlale imidlalo yokuxhumana. Ukubhukuda noma ukuhamba ngebhayisikili kungaba ezinye izindlela ezingcono, ngenxa yengozi ephansi yokuphuka.

Uma une-pycnodysostosis, kufanele uxoxe nomlingani ngamathemba okuthi kungenzeka udlulisele ufuzo enganeni yakho. Umlingani wakho naye angafuna ukwenza ukuhlolwa kofuzo ukubona ukuthi ngabe bangumthuthi yini. Uma bengesona isithwali, awukwazi ukudlulisela isimo uqobo kuzingane zakho eziphilayo. Kepha njengoba unamakhophi amabili wesakhi sofuzo esiguqukile, noma yimuphi umntwana ophilayo onakho uzodla ifa elilodwa kulawa futhi ngokuzenzekelayo abe ngumthwali. Uma umlingani wakho engumphathi futhi une-PYCD, amathuba okuba ingane engokwemvelo izuze izakhi zofuzo ezimbili eziguquliwe ngakho-ke ukuba nalesi simo uqobo kukhuphuke kuze kufike kumaphesenti angama-50.

Ukuba ne-Toulouse-Lautrec syndrome kuphela akuthinti isikhathi sokuphila. Uma ngenye indlela unempilo, kufanele ukwazi ukuphila impilo ephelele, ngokuqapha okuthile kanye nokubandakanyeka okuqhubekayo kwethimba labasebenzi bezempilo.