Osteopetrosis chirwere chepfupa chinokonzera mapfupa kuti ave akawandisa, zvichiita kuti nyore nyore kuputsika mapfupa. Osteopetrosis inokonzera masero emapfupa akadai anonzi osteoclasts kuti ashande zvisina kufanira. Kazhinji, osteoclasts inoputsa mabheji ekare emapfupa sezvinoita mutsva mutsva. Kune vanhu vane osteopetrosis, ma-osteoclasts haaputsi pasi mapfupa ekare emapfupa. Iyi pfupa inovaka inokonzera kuti mapfupa awedzere.
Mumusoro uye musana, kuwedzerwa uku kunoisa kumanikidzi uye kunokonzera matambudziko emagetsi. Mumapfupa apo marara emapfupa anowanzowanzoita, mahombekombe akawanda akabuda kunze kwemafupa.
Kune marudzi akawanda e osteopetrosis: autosomal yakawanda osteopetrosis, autosomal recess osteopetrosis, uye mukati-kati ma autosomal osteopetrosis. Rudzi urwu rwaunako uye kuoma kwechimiro chinoenderana nekuti rakagara nhaka sei.
Autosomal Kukuru Osteopetrosis (ADO)
Pakutanga inonzi Albers-Schonberg chirwere mushure mekuda kwechirwere chemajeremani chekuGermany uyo akatanga kuitsanangura, iyi yehuta ye osteopetrosis ine unyoro uye inowanikwa muvanhu vakuru pakati pemakore makumi maviri nemakumi mana. Vanhu vakuru vane osteopetrosis vanowanzoputika mapfupa asina kuporesa zvakanaka. Utachiona hwehutachiona (osteomyelitis), kurwadziwa, kupera simba kweArthritis , uye misoro inogona kuitikawo. ADO inoratidzira runyoro rwe osteopetrosis. Vamwe vanhu vangave vasina zviratidzo zvinoonekwa.
ADO ndiyo inowanzozivikanwa ye osteopetrosis. Inenge 1 muvanhu 20 000 vane chimiro chechimiro. Vanhu vane ADO ndivo vanogara nhaka imwe chete yejeni, zvichireva kuti yakabva kune mumwe mubereki mumwechete (anozivikanwa sevotosomal inowanikwa nhaka). Avo vanoonekwa vane osteopetrosis vane 50 mukana yemukana wekuendesa mamiriro acho kuvana vavo.
Autosomal Recessive Osteopetrosis (ARO)
ARO, inozivikanwawo seyakashata infantile osteopetrosis, inoratidzika sehutano hwakanyanya hwe osteopetrosis. ARO inotanga kuchinja mwana asati azvarwa. Vana vacheche vane ARO vane mapfupa akaoma kwazvo (iyo yakafanana iyo yakafananidzwa nematanda echoki) iyo inoputika nyore nyore. Panguva yekuberekwa, mapfupa emapfupa epafudzi anogona kuputsa.
Malignant infantile osteopetrosis inowanzoonekwa pakuzvarwa. Pakati pegore rokutanga rehupenyu, vanenge 75 muzana yevana vane chirwere chinouraya infantile osteopetrosis vachawedzera matambudziko eropa zvakadai seanemia (pasi shoma masero matsvuku eropa) uye thrombocytopenia (pasi shoma yeplatelets muropa). Zvimwe zviratidzo zvinosanganisira:
- Low levels of calcium (iyo inogona kukonzera kukanganisa)
- Kushushikana pamusana wemaziso muuropi (zvichiita kuti uone kuora mwoyo kana kupofu)
- Kunzwa kurasikirwa
- chiso chekuora mutezo
- Kazhinji pfupa rinoputika
Ichi chimiro che osteopetrosis hachiwanzoiti, chinokonzera 1 mu 250,000 vanhu. Mamiriro acho ezvinhu anowanikwa apo vabereki vose vane gwesi risingawanisiki rinopfuudzwa kumwana (anonzi autosomal recessive nhaka). Vabereki havana chirwere, kunyange vachitakura geni. Mwana mumwe nomumwe wavo ane mukana wechina wekuzvarwa neAAR.
Kubva kusati kwatorwa, zviyero zveupenyu hwevana vane ARO zvisingasviki makore gumi.
Intermediate Autosomal Osteopetrosis (IAO)
Intermediate autosomal osteopetrosis chimwe chimiro chisingawanzo che osteopetrosis. Ndiwo maitiro mashomanana emamiriro ezvinhu akave ataurwa. IAO inogona kupiwa nhaka kubva kune umwe kana vabereki vose, uye inowanzoonekwa panguva yehuduku. Vana vane IAO vangave nehuwandu hwehutachiona hwekuputika, pamwe nekushaya ropa. Vana vane IAO havawanzove nehupenyu hunotyisa marora marara asina kukodzera avo vana vane ARO vane. Zvisinei, vamwe vana vanogona kuve nokusava nehanya ne calcium deposits muuropi dzavo, zvichiita kuti vakwanise kushaya pfungwa.
Mamiriro acho akabatanidzawo nehaal tubular acidosis, chirwere chepfungwa.
OL-EDA-ID
Mune zviitiko zvisingawanzoitiki, osteopetrosis inogona kupiwa nhaka kuburikidza ne X chromosome. Izvi zvinozivikanwa seO OL-EDA-ID, chidimbu chezviratidzo izvo zvinokonzera - osteopetrosis, lymphedema (kusuruvara kusina kujairika), anhidrotic ectodermal dysplasia (chirwere chinokonzera ganda, bvudzi, meno, uye glandira), uye immunodeficiency. Vanhu vane OL-EDA-ID vanowanzosangana nematambudziko akakomba, anowanzoitika.
Treatment Options
Maviri evanhu vakuru uye vana vaduku ve osteopetrosis vanogona kubatsirwa neAymtimmune injections. Actimmune (interferon gamma-1b) inononoka kufambira mberi kwechirwere chinonzi infantile osteopetrosis nokuti inokonzera kuwedzera kwepafu resorption (kuputsika kwemapfupa emapfupa ekare) uye muropa red cell production.
Kushandiswa kwemapfupa emapfupa ndiyo chete chirwere chakakwana chinowanikwa chinouraya infantile osteopetrosis. Kutapisa marara kwemarora kune njodzi dzakawanda, asi zvibatsiro - kudzivisa kuurawa kwevana - kunogona kupfuurira kune ngozi.
Mimwe mishonga inosanganisira kudya kunovaka muviri, prednisone (inobatsira kuvandudza ropa remaverengero ekuverengera), uye kurapa kwepanyama uye yehutano .
Sources:
National Institutes of Health. Mashoko evarwere pamusoro peOsteopetrosis.
Genetics Home Reference. Osteopetrosis. (2016)