I-Osteopetrosis iyisifo samathambo esibangela ukuba amathambo abe mnene kakhulu, okuholela amathambo aphukile kalula. I-Osteopetrosis ibangela amangqamuzana athambo akhethekile okuthiwa ama-osteoclasts asebenze ngendlela engavamile. Ngokuvamile, ama-osteoclasts aphule amathanga asefu esidala njengoba amathambo amathambo amasha ekhula. Kubantu abane-osteopetrosis, ama-osteoclasts awaphuli phansi izicubu zamathambo endala. Leli thambo lakha lenza ukuba amathambo aqoke.
Ekhanda nomgogodla, lokhu kunqwaba kugcizelela ukucindezeleka emithanjeni futhi kubangela izinkinga zezinzwa. Emathanjeni lapho umnkantsha wamathambo uvame ukufometha, izixuku ezidlulayo ziphuma emnothweni wethambo.
Kunezinhlobo eziningana ze-osteopetrosis: i-autosomal osteopetrosis ephakeme, i-autosomal osteopetrosis ephindaphindiwe, kanye ne-autosomal osteopetrosis. Uluphi uhlobo onalo kanye nobukhulu besimo kuncike ekutheni lizuzwe njengefa.
I-Autosomal Dominant Osteopetrosis (i-ADO)
Ngokweqile okuthiwa i-Albers-Schonberg isifo se-radiologist yaseJalimane esayikuchazela okokuqala, lolu hlobo lwe-osteopetrosis lumnene futhi luvame ukutholakala kubantu abadala phakathi kweminyaka engu-20 no-40 ubudala. Abantu abadala abanesifo se-osteopetrosis banamathebhu avame ukuphulukisa. Izifo ze-bone (i-osteomyelitis), ubuhlungu, i- arthritis ephuzayo , futhi izinhlungu zingase zenzeke. I-ADO uhlobo oluthile lwe-osteopetrosis. Abanye abantu kungenzeka bangenayo izimpawu ezibonakalayo.
I-ADO iyindlela ejwayelekile kakhulu ye-osteopetrosis. Cishe abantu abangu-20 ku-20,000 banalo hlobo lwesimo. Abantu abane-ADO bazuza i-copy eyodwa yegene, okusho ukuthi livela kumzali oyedwa kuphela (owaziwa ngokuthi i-autosomal ifa eliyinhloko). Labo abatholakala nge-osteopetrosis banethuba elingamaphesenti angu-50 lokudlulisela isimo kubantwana babo.
I-Autosomal Recessive Osteopetrosis (i-ARO)
I-ARO, eyaziwa nangokuthi i-osteopetrosis eyingozi kakhulu, iyindlela enamandla ye-osteopetrosis. I-ARO iqala ukuphazamisa ingane ngaphambi kokuba izalwe. Izinsana ezine-ARO zinamathemba amakhulu (okungafani okuye kwaqhathaniswa nokhuni). Phakathi nenqubo yokuzalwa, amathambo ehlombe lezingane angaphula.
I-osteopetrosis encane yezingane ezincane ngokuvamile ibonakala lapho izalwa. Ngonyaka wokuqala wokuphila, cishe amaphesenti angaba ngu-75 wezingane ezine-osteopetrosis ezincane ezincane ezincane zizoqala izinkinga zegazi ezifana ne-anemia (inombolo ephansi yamangqamuzana egazi abomvu) kanye ne-thrombocytopenia (inombolo ephansi yamaplatelets egazini). Ezinye izimpawu zifaka:
- Amazinga aphansi e-calcium (angabangela ukuqubuka)
- Ukucindezela kwi-nertic optic ebuchosheni (okuholela ekukhubaleleni okubukwayo noma ukuphuphuthekisa)
- Ukuzwa ukulahlekelwa
- ukukhubazeka ebusweni
- Amathambo avame ukuphuka
Leli fomu le-osteopetrosis alivamile, elichaphazela abantu abangu-250 000. Isimo senzeke lapho bobabili abazali banegesi elingavamile elidluliselwa kumntwana (okuthiwa i-autosomal ifa eliphindaphindiwe). Abazali abanalo isifo, nakuba bephethe isakhi. Ingane ngayinye abanayo ine-1 ku-4 amathuba okuzalwa ne-ARO.
Ukungaphenduliwe, isilinganiso sokuphila sezingane ezine-ARO singaphansi kweminyaka eyishumi.
I-Autosomal Osteopetrosis (IAO) ephakathi
I-autosomal osteopetrosis ephakathi yinye indlela engavamile ye-osteopetrosis. Amacala ambalwa kuphela kwalesi simo aye abikiwe. U-IAO ungathola ifa elivela kumzali oyedwa noma bobabili, futhi ngokuvamile kubonakala ngesikhathi esemncane. Izingane ezine-IAO zingase zithole ingozi yokwephulwa kwethambo, kanye ne-anemia. Izingane ezine-IAO ngokuvamile zinezinsalela ezisongela impilo emantwini abantwana abane-ARO. Kodwa-ke, ezinye izingane zingase zibe nezinkinga ezingavamile ze-calcium ebuchosheni babo, okuholela ekukhubazekeni kwengqondo.
Lesi simo sithintana ne-renal tubular acidosis, uhlobo lwesifo sezinso.
OL-EDA-ID
Ezimweni ezingavamile kakhulu, i-osteopetrosis ingazuzwa nge-X chromosome. Lokhu kwaziwa ngokuthi i-OL-EDA-ID, isifingqo sezimpawu isimo sibangela - i-osteopetrosis, i-lymphedema (ukuvuvukala okungavamile), i-anhidrotic ectodermal dysplasia (isimo esibathinta isikhumba, izinwele, amazinyo, nezigulane zithuthuku), kanye nokuzivikela komzimba. Abantu abane-OL-EDA-ID bajwayele ukutheleleka okunzima, okuvamile.
Izinketho zokwelapha
Izinhlobo zomuntu omdala nezinsana ze-osteopetrosis zingase zizuze kuma-Actimmune injections. Ngokuvamile (i-interferon gamma-1b) ibambezela ukuqhubekela phambili kwe-osteopetrosis encane kabi ngenxa yokuthi ibangela ukukhuphuka kwe-bone resorption (ukuchithwa kwamathambo ezindala zamathambo) nokukhiqizwa kwegazi elibomvu.
Ukufakelwa komnyoba wamathambo yilapho kuphela ukwelashwa okuphelele okutholakala kwe-osteopetrosis embi kakhulu. Ukufakelwa komnyoba we-bone kunezingozi eziningi, kodwa izinzuzo - ukugwema ukushona kwabantwana - kungadlula izingozi.
Ezinye izindlela zokwelapha zihlanganisa ukudla okunomsoco, i-prednisone (kusiza ukuthuthukisa ukubalwa kwesisindo segazi), kanye nokwelapha ngokomzimba nokusebenza .
Imithombo:
Izikhungo zezempilo zikazwelonke. Imininingwane yeziguli mayelana ne-Osteopetrosis.
I-Genetics Home Reference. I-Osteopetrosis. (2016)