Osteopetrosis (woopsa nsangalabwi). Osteopetrosis - ndichiyani?

Osteopetrosis (nsangalabwi kapena matenda) - aakulu kobadwa nako chigoba matenda, yodziwika ndi ossification kwambiri (m'deralo kapena zowombetsa mkota). Nthawi zambiri amadziwika ndi kudwala ndi akatengela apabanja. Kwambiri kawirikawiri matenda amapezeka mu banja wathanzi.

Kudwala anali woyamba kuphunzira ndi anafotokozedwa ndi German dokotala Albers-Schoenberg mu 1904. Mu mabuku nsangalabwi osteopetrosis, imatchedwanso monga kobadwa nako zokhudza zonse osteosclerosis. Ana, matenda ndi pafupifupi nthawi yomweyo pambuyo pa kubadwa. Matendawa amapezeka mu mawonekedwe kwambiri, pali milandu amafa. Pa osteopetrosis zochepa aakulu anatsimikiza okha akula ndipo nthawi zambiri kupeza mwachisawawa pa x-ray chifukwa fupa zikukhudza.

zimayambitsa

Kwa zaka zambiri, asayansi sangathe kufikira kuuzidwa pa etiology wa matenda Albers-Schonberg. Akukhulupirira kuti chamoyo njira pathological ali anayamba kumathandiza mayamwidwe kashiamu ndi phosphorous. Aakulu matenda kagayidwe kachakudya mchere chimayambitsa matenda lotchedwa osteopetrosis. Kodi ndi chifukwa chiyani adamulowetsa limagwirira chiwonongeko minofu fupa, sikutheka kuti tipeze.

Nthawi zambiri n'zotheka mme- yotsimikizika matenda otengera kwa makolo. Osteopetrosis ( "amapha nsangalabwi") akhoza opatsirana monga autosomal lalikulu ndi autosomal recessive. Mbali yoyamba ya kudwala ndi wapezeka mu m'badwo wamkulu ndipo mosavuta. Pamene recessive khalidwe kutengerapo matenda Albers-Schonberg amawapeza mwamsanga pambuyo pa kubadwa ndipo akutenga malo ndi zambiri matendawo.

Kodi kudwala?

The pathogenesis wa osteopetrosis ndi insufficiently kuphunzira. Amaganiza kuti ngakhale utero akusokoneza yachibadwa mogwirizana mafupa ndi minofu hematopoietic. Osteoclasts - maselo amachititsa chiwonongeko cha mafupa a - osati kukwaniritsa ntchito yake. Chifukwa cha zimenezi, kusintha dongosolo fupa, iwo ali opunduka ndi salinso kupirira ntchitoyo. Komanso kwambiri kusokonezedwa kotunga magazi, innervation mafupa. Nthawi zambiri zimakhudza yaitali tubular mafupa, Chigaza, mafupa a chiuno ndi msana.

gulu la osteopetrosis

• Autosomal recessive mawonekedwe (anayamba pobadwa, amapezeka ndi mavuto aakulu ndipo kawirikawiri amapha).
• Autosomal lalikulu mawonekedwe (chaululidwa akula, mtima wabwino Inde).

Osteopetrosis - ndichiyani? zizindikiro

Ngati modes recessive matendawa zizindikiro woyamba wa matenda uonekera nthawi yomweyo pambuyo pa kubadwa. Anyamata ndi atsikana Amachitanso mwina kudwala. nkhope za mwanayo ali ndi khalidwe form: cheekbones mkulu, anabzala motalikirana maso. muzu wa mphuno nthawi zonse maganizo, mphuno anatembenuka outwards, milomo wandiweyani. Posachedwa akufotokozera magazi m'thupi ndi kupata hydrocephalus, pali kuwonjezeka zikusintha chiwindi ndi ndulu. sizachilendo hemorrhagic diathesis. Pamapeto pake mosalephera amakhala zotupa angapo fupa. Ndi kufala a Chigaza pali psinjika za chamawonedwe ndi misempha Makutu kukhala khungu ndi ugonthi.

Osteopetrosis - njira wakupha zokhudza pafupifupi onse mafupa yaitali. ana ambiri sapulumuka ngakhale zaka 10. Mpatuko purulent osteomyelitis fupa minofu, zikubweretsa chilema. Chifukwa cha imfa, amakonda kukhala magazi kwambiri ndi sepsis.

Pamene Baibulo lalikulu la kudwala ndi wapezeka mu ana a sukulu komanso akulu. Kawirikawiri, wodwalayo n'komwe kuti matenda sioneka ali zinabindikira mu thupi lake. Osteopetrosis zambiri mwangozi kupeza pa radiography kwa fupa wovulala. Nthawi zambiri, kudwala inadzachitika kwathunthu asymptomatic. Odwala ena amadandaula kuwawa kobwereza mu mafupa, pamene ena amadzakhala makasitomala pafupipafupi zoopsa, ndipo kenako kupeza pa tebulo ya opareshoni ndi fractures pathological. Magazi m'thupi kawirikawiri anasonyeza pang'ono, matenda a ubongo chifukwa cha psinjika za ulusi mitsempha n'zochepa.

M'njira bata wa matenda Albers-Schonberg matenda maganizo chitukuko cha osati anaona. Kwambiri khalidwe la kudwala izi pambuyo pake teething, chitukuko nthenda, chiwopsezo kuti caries. Aafupi pobadwa, si achilendo, kupepera kukula anaulula kuyandikira kwa chaka.

Osteopetrosis (woopsa nsangalabwi). diagnostics

Mu nkhani ya woyambirira wa kudwala mtima pang'ono kugwa m'manja mwa madokotala miyezi ya moyo. Pankhaniyi, matenda ndi zambiri nkhawa kwambiri. Maonekedwe khalidwe la mtima limachititsa akuganiza osteopetrosis. Pa zaka okalamba, odwala zambiri kale anawawerenga zamafupa chifukwa fractures pafupipafupi. Akuluakulu, chithunzi matenda amaona, zizindikiro zambiri sanalembedwepo, amene penapake complicates matenda.

Nthawi zonse, mosasamala kanthu za msinkhu x-ray angathe kutsimikiza kapena kukana osteopetrosis. Kodi izo ndi zimene tanthauzo la njira? Mu ofesi mwapadera ndi chithunzi cha zinkakhala m'dera mu zolosera awiri. The X-ray limasonyeza bwino mafupa chisindikizo, pamene malire pakati pa chubu ndi thunthu chofewa ngati siponji palibe. Mafupa olumala, metaphyses (m'dera pafupi malo) ali kwambiri kukodzedwa. Kawirikawiri ndondomeko amatenda msana, chigaza ndi mafupa a chiuno. matenda Curving amapereka mtanda striation wa vertebrae ndi mafupa yaitali, amene ali kuoneka bwino pa x-ray.

osteopetrosis chithandizo

Kwakukulu mankhwala sichinayambe zinachokera matenda ofooketsa. Chithandizo zimagwiritsa symptomatic, umalimbana patsogolo chikhalidwe ambiri ndi khalidwe la moyo. Ngati matenda Albers-Schonberg ndi wapezeka oyambirira, wodwala angathe kuchitidwa mafupa kupatsidwa zina. Iyi ndi ndondomeko watsopano kuti amalola kuti kupulumutsa moyo wa mwana, ngakhale pa nkhani ya zotupa aakulu chigoba. The kale msonkhano mafupa kumuika bwino mwayi kwa zotsatira zabwino za matendawa.

Yokwaniritsira ntchito chofunika kulandira zinthu wachibale amene wodwalayo kutuluka pazipita ngakhale HLA-chibadwa. Apo ayi, ndi mafupa si kugwira padzakhala mavuto aakulu amene angasokoneze moyo wa wodwalayo. Kudziwa ngakhale mayesero apadera magazi akutsatiridwa, kulola kudziwa kufanana kwa matupi a woperekayo ndi munthuyo.

Pamene bwino zotsatira za ntchito dongosolo fupa pang'onopang'ono limzake. General boma kusintha kumachitika, maso zachilendo kumva. Kupatsidwa zina - ichi ndi mwayi okhawo odwala amene mankhwala ena osati zidapatsa zotsatira chogwirika.

Kupatsidwa zina maselo tsinde la m'mafupa alinso Njira zingamuthandize kwambiri zochizira matenda monga osteopetrosis. Ndi chiyani icho? Pankhaniyi, si lonse limba kupatsidwa zina, koma selo limodzi lokha. Iwo mizu mu wodwalayo mafupa ndi kubwezeretsa hematopoiesis yachibadwa. njirayi ndi zosavuta kubala achinyamata amene akudwala, chifukwa sikutanthauza mtsempha ochititsa dzanzi.

Zochizira akulu ntchito calcitriol kapena γ-interferon, omwe matenda ntchito ya osteoclasts, potero inhibiting ndondomeko chiwonongeko fupa ndi kusindikiza. mankhwala amenewa angathe kuchepetsa chiopsezo fractures watsopano, amene akutsutsana zimakhudza khalidwe la moyo wa wodwalayo.

zosokonezeka osteopetrosis

fractures pafupipafupi mafupa yaitali - vuto kuti pakapita nthawi loyang'anizana yense wopirira. Akhudzidwa kwambiri m'chiuno, si lilibe kuwonongeka kwa m'munsi nsagwada, msana ndi chifuwa. Motsutsa likhale ndondomeko hematopoiesis kukula suppurative osteomyelitis, zovuta kuchiza. Akadzauzidwa nthambi mapindikidwe - chifukwa cha zimenezi amadwala matenda aakulu otchedwa osteopetrosis. Photo zotsatira za kudwala izi dostotatochno kuyang'ana wowopsa.

kaonedwe

Pa zambiri za matenda zimadalira m'badwo wa wodwalayo. Nthawi zina, matenda ya khateyo anasiya ndipo sanali kudzikumbutsa kwa zaka zambiri. Mu embodiments zina, kupitirira kwa matenda amapezeka ndi magazi kwambiri ndi matenda pafupipafupi pyogenic. Aang'ono, mwana, wamkulu mosavuta mavuto aakulu ndi imfa. Mosiyana matenda akuluakulu amene kumaonekera monga layamba, zosasangalatsa kuchuluka kokha fragility mafupa.

Kaya cha zovuta matenda, odwala onse ndi matenda anatsimikizira za moyo ziyenela kuyan'anidwa zamafupa wa. An dokotala wodziwa adzatha yake kudziwa mavuto alionse chifukwa ndipo ngati n'koyenera, kusankha njira zina za nkhaniyi ndipo chithandizo.