Yintoni icystinosis kunye neempawu eziphambili

Umxholo

• Iimpawu eziphambili
• ICystinosis kwizintso
• ICystinosis emehlweni
• Yintoni ebangela icystinosis
• Unyango lwenziwa njani

I-cystinosis sisifo esizalwa sinaso apho umzimba uqokelela i-cystine egqithisileyo, i-amino acid ethi, xa ingaphezulu kweeseli, ivelise amakristalu athintela ukusebenza ngokuchanekileyo kweeseli kwaye, ke, esi sifo sinokuchaphazela amalungu amaninzi omzimba , lokwahlulwa lube ziindidi ezintathu eziphambili:

• I-cystinosis yeNephropathic: ikakhulu ichaphazela izintso kwaye iyavela emntwaneni, kodwa inokuguquka iye kwamanye amalungu omzimba njengamehlo;
• I-cystinosis ephakathi: iyafana nephropathic cystinosis kodwa iqala ukukhula kwinqanaba lokufikisa;
• I-Ocular cystinosis: luhlobo olubi kakhulu olufikelela kuphela emehlweni.

Esi sisifo semfuza esinokufunyanwa kumchamo kunye novavanyo lwegazi njengosana, malunga neenyanga ezintandathu ubudala. Abazali nogqirha wabantwana banokusirhanela esi sifo ukuba umntwana uhlala enxaniwe kakhulu, echama kwaye egabha kakhulu kwaye engafumani bunzima ngokufanelekileyo, ngeFanconi syndrome ekrokrelwayo.

Iimpawu eziphambili

Iimpawu ze-cystinosis ziyahluka ngokwamalungu achaphazelekayo, kwaye zinokubandakanya:

ICystinosis kwizintso

• Ukwanda kokoma;
• Ukwandisa ukuzimisela ukuchama;
• Ukudinwa okulula;
• Ukunyusa uxinzelelo lwegazi.

ICystinosis emehlweni

• Iintlungu emehlweni;
• Uvakalelo ekukhanyeni;
• Kunzima ukubona, okunokuthi kukhule kube yimfama.

Ukongeza, ezinye iimpawu ezinje ngobunzima ekuginyeni, ukulibaziseka kophuhliso, ukugabha rhoqo, ukuqhina okanye iingxaki ezinje ngeswekile kunye notshintsho ekusebenzeni kwe-thyroid, umzekelo, nazo zinokubonakala.

Yintoni ebangela icystinosis

I-cystinosis sisifo esibangelwa kukutshintsha kwe-gene ye-CTNS, enoxanduva lokuvelisa iproteni eyaziwa ngokuba yi-cystinosine. Le proteni ihlala isusa i-cystine kwiiseli zangaphakathi, iyithintele ekwakheni ngaphakathi.

Xa oku kwakha kwenzeka, iiseli ezisempilweni zonakele kwaye zisilele ukusebenza ngesiqhelo, zonakalisa lonke ilungu ngokuhamba kwexesha.

Unyango lwenziwa njani

Unyango luhlala lusenziwa ukusukela oko esi sifo sifunyenwe, ukuqala ngokusetyenziswa kwamayeza, anje ngecysteamine, enceda umzimba ukuphelisa enye yecystine egqithisileyo. Nangona kunjalo, akunakwenzeka ukuthintela ngokupheleleyo ukuqhubela phambili kwesi sifo kwaye, ke, kuye kufuneke ukuba kwenziwe ukufakelwa kwezintso, xa isifo sele sichaphazele ilungu ngendlela ebaluleke kakhulu.

Nangona kunjalo, xa isifo sikhona kwamanye amalungu, ukufakelwa akusinyangi isifo kwaye, ke, kunokuba yimfuneko ukuqhubeka nokusebenzisa iyeza.

Ukongeza, ezinye iimpawu kunye neengxaki zifuna unyango oluthile, njengesifo seswekile okanye isifo se-thyroid, ukuphucula umgangatho wobomi babantwana.