Osteopetrosis (na mutuwa marmara). Osteopetrosis - abin da yake da shi?

Osteopetrosis (marmara, ko cuta) - tsanani nakasar kwarangwal cuta, halin da ya wuce kima ossification (gida ko kowa yana da). A mafi sani lokuta, Pathology da aka gada. Very wuya da cutar yakan faru a cikin wani m iyali.

Pathology aka farko karatu da aka bayyana ta da Jamusanci likita Albers-Schoenberg a 1904. A adabi marmara osteopetrosis shi kuma aka sani da nakasar tsari osteosclerosis. A yara, da ganewar asali ne kusan nan da nan bayan haihuwa. Haka kuma cutar yakan faru a cikin tsanani form, akwai lokuta na mutuwar. A wani kasa mai tsanani osteopetrosis aka ƙaddara kawai a adulthood kuma shi ne yawanci a bazuwar binciken a kan x-ray saboda wani karayar kashi.

Sanadin

Domin shekaru masu yawa, masana kimiyya suna iya isa wani yarjejeniya a kan etiology da cutar Albers-Schonberg. An yi imani da cewa a cikin kwayoyin da pathological tafiyar matakai an fara, zai iya hana sha na alli da phosphorus. Tsanani na rayuwa cuta ma'adanai ba Yunƙurin ga cutar kira osteopetrosis. Mẽne ne, kuma me ya sa aka kunna ginshikai na rushewa daga kashi nama, shi ne ba zai yiwu a sami fita.

A mafi yawan lokuta yana yiwuwa a gano wani tabbataccen hereditary cuta. Osteopetrosis ( "m marmara") za a iya daukar kwayar cutar a matsayin autosomal rinjaye da kuma autosomal recessive. A cikin farko idan da Pathology da aka gano a cikin adult shekaru da kuma shi ne gwada da sauki. Lokacin da wani recessive hali canja wurin Albers-Schonberg cutar da ake bincikar lafiya jim kadan bayan haihuwa da kuma daukan wuri da yawa rikitarwa.

Ta yaya ne Pathology?

A pathogenesis na osteopetrosis aka arancinsu karatu. An zaci cewa ko da a utero lalace al'ada hulda kashi da hematopoietic nama. Osteoclasts - Kwayoyin alhakin halakar da kwarangwal - ba cika ta aiki. A sakamakon haka, canji daga kashi tsarin, su ne maras kyau da kuma daina jimre da aiki. Bugu da kari, muhimmanci gaji da damuwa da jini wadata, innervation kwarangwal. Mafi sau da yawa rinjayar da dogon tubular kasũsuwa, ashe, kwanyar, kafafuwa da kuma kashin baya.

rarrabuwa na osteopetrosis

• Autosomal recessive form (ɓullo da a haihuwa, ya auku tare da m rikitarwa da kuma m m).
• Autosomal rinjaye form (saukar a} uruciyarsa, a benign hanya).

Osteopetrosis - abin da yake da shi? cututtuka

Idan recessive halaye na watsa farko alamun cutar bayyana nan da nan bayan haihuwa. Boys da 'yan mata ne daidai da m don samun lafiya. A baby ta fuska yana halayyar form: high cheekbones, dasa nisa baya idanu. tushen daga cikin hanci ne ko da yaushe raunanar, kafafen hancinsa ya juya waje, m lebe. Ba da da ewa tasowa anemia da kuma m hydrocephalus, akwai wani alama karuwa a hanta da saifa. Very kowa hemorrhagic diathesis. A makawa na karshe zama mahara kashi raunuka. Tare da baza na kwanyar akwai matsawa da na gani, kuma auditory jijiyoyi ci gaba da makanta, da, wani nauyi a.

Osteopetrosis - wani m aiwatar da shafi kusan dukan dogon ƙasũsuwa. Mai yara ba tsira ko da shekaru 10. Tasowa surkin jini osteomyelitis kashi nama, abu don tawaya. A dalilin mutuwar, ayan zama mai tsanani anemia da kuma sepsis.

Lokacin da rinjaye version of Pathology da aka gano a cikin makaranta-shekaru yara, kazalika da manya. Yawancin lokaci, da mãsu haƙuri ne ba ma sane da cewa wannan insidious cuta ya kwana a jikinsa. Osteopetrosis ne yawanci mai haɗari binciken a kan radiography for kashi karaya. A lokuta da dama, da Pathology daukan sanya gaba ɗaya asymptomatic. Wasu marasa lafiya koka maimaita zafi a cikin ƙasusuwansa, yayin da wasu sama m abokan ciniki rauni, sa'an nan da samun a kan aiki tebur da pathological samu karaya. Anemia mafi yawa ana bayyana dan kadan, neurological cuta a sakamakon matsawa na jijiya zaruruwa ne rare.

A milder siffofin da cutar Albers-Schonberg shafi tunanin mutum da cuta a cikin ci gaban da ba ya lura. Very halayyar wannan Pathology ne daga baya teething, su mahaukaci ci gaba, laulayi caries. Short jiki a haihuwa, ba a peculiar, retarded jiki cin saukar kusa da shekara.

Osteopetrosis (na mutuwa marmara). bincikowa da

A cikin hali na farkon cin gaban Pathology kadan haƙuri da dama a hannun likitoci a cikin watannin farko na rayuwa. A wannan yanayin, da ganewar asali ne yawanci ba da yawa ne matsala. A halayyar bayyanar da haƙuri sa ya yiwu don zargin osteopetrosis. A mazan shekaru daban-daban, marasa lafiya yawanci an riga rajista a orthopedist saboda m samu karaya. A manya, da na asibiti hoto da aka Heart, da yawa cututtuka ba faruwa, wanda da ɗan dagula ganewar asali.

A dukkan lokuta, ko da kuwa shekaru x-ray ne iya tabbatar da ko yi musu osteopetrosis. Mẽne ne, kuma abin da yake da ma'anar Hanyar? A wani musamman sanye take ofishin ne hoto na shafa yankin a biyu tsinkaya. A X-ray a fili ya nuna da hatimin kasũsuwa, ashe, yayin da iyaka tsakanin tube da spongy abu ne mãsu fakowa ba. A kasusuwa ne maras kyau, metaphyses (da yankin kusa da gidajen abinci) suna da yawa kumbura. Yawancin lokaci da tsari ya shafi kashin baya, kwanyar da kafafuwa. Curving cuta azurta giciye striation na vertebrae da kuma dogon kasũsuwa, ashe, abin da yake a fili a bayyane a kan x-haskoki.

osteopetrosis magani

M magani ya ba da aka ɓullo daga wannan debilitating cutar. Jiyya ne yafi symptomatic, da nufin inganta general yanayin da kuma ingancin rayuwa. Idan Albers-Schonberg cuta da aka gano farkon, da mãsu haƙuri za a iya yi bargo dasawa. Wannan shi ne mai gwada da sabon hanya da cewa ba ka damar ceton rayuwar wani yaro, ko da a cikin akwati mai tsanani kwarangwal raunuka. A baya gudanar da wani bargo dashi, da mafi alhẽri chances na m sakamako da cutar.

Domin dauke da fitar ayyukan da ake bukata domin samun kayan daga makusancin zumunta da abin da haƙuri za su fito fili iyakar karfinsu Hla-genes. In ba haka ba, da bargo ba dauki rike, zai zama akwai tsanani da rikitarwa da cewa barazana da rai na haƙuri. Don sanin da karfinsu na musamman jini gwaje-gwaje suna da za'ayi, kyale domin sanin kama da genome na bayarwa da kuma karɓa.

Lokacin da nasara sakamako na aiki da kashi tsarin hankali mayar. Janar jihar kyautata auku, al'ada gani da mai ji. Dasawa - wannan ne kawai kwatsam ga waɗanda marasa lafiya a wanda sauran jiyya ba bada wani kyakkyawan sakamako ba.

Dasawa na kara Kwayoyin na bargo ne a bangaren sosai alamar babban tini domin lura da cututtuka kamar osteopetrosis. Mene ne wannan? A wannan yanayin, shi ne ba da dukan zuciya da sauransu dasawa, amma kawai wani guda cell. Sun dauki tushen a cikin haƙuri na bargo da kuma maido da hematopoiesis. Wannan hanya ne sauƙin kai matasa marasa lafiya, saboda ba ya bukatar igiyar jini maganin sa barci.

Domin lura da manya amfani calcitriol ko γ-interferon, wanda normalize aiki na osteoclasts, game da shi inhibiting aiwatar da kashi halaka da kuma sealing. Irin wannan far iya rage hadarin sabon samu karaya, wanda idon rinjayar da ingancin rayuwa na haƙuri.

rikitarwa osteopetrosis

M samu karaya na dogon ƙasũsuwa - matsala da jima ko daga baya fuskantar kowane haƙuri. Mai shafa hip, Ba a cire lalacewa daga cikin ƙananan muƙamuƙi, kashin baya, kirji. A kan backdrop na aiwatar da hematopoiesis girma suppurative osteomyelitis, da wuya mu bi. Furta reshe nakasawa - makawa sakamakon tsanani cuta kira osteopetrosis. Photo sakamakon wannan Pathology dostotatochno duba ban tsoro.

Outlook

A lokacin yawa da cutar dogara da shekaru na haƙuri. A wasu lokuta, cutar na iya ci gaba ba zato ba tsammani tsaya, kuma bai tuna da kanka domin shekaru masu zuwa. A wasu embodiments, da ci gaban da cutar ya auku tare da m anemia da kuma m pyogenic cututtuka. A ƙaramin yaro, da girma da alama na tsanani da rikitarwa da kuma mutuwa. A bambanci, ya fara tasawa cuta wadda bayyana kanta a matsayin kasa aiki, m kawai ya karu fragility na ƙasũsuwa.

Ko da kuwa da tsananin daga cikin cuta, dukan marasa lafiya tare da tabbatar da ganewar asali na rayuwa dole a lura a orthopedist. An gogaggen likita za su iya dace gano wani sakamakon da rikitarwa da kuma, idan ya cancanta, sanya ƙarin hanyoyi na jarrabawa da kuma magani.