Crystal isifo: izimbangela, isithombe, ubude bempilo

Crystal sifo singumbulali pathologies esingavamile esidluliselwa ngofuzo lapho kukhona ukuphazamiseka isakhiwo kanye nokuthuthukiswa uhlelo zemisipha, okuholela fragility eliphezulu amathambo. Kwezokwelapha, lesi sifo okuthiwa osteogenesis imperfecta. Kuyini lokhu sifo? Yiziphi izibonakaliso izimpawu zesifo, kulokho zokwelapha ezikhona? Ake sizame ukuphendula yonke le mibuzo.

Kuyini osteogenesis imperfecta?

Crystal bamathambo - kuyisifo esiwufuzo. Kulesi isifo, ithambo izicubu baba buyinto ebucayi kakhulu, ngenxa okuyinto umuntu nesineke waphuka ngokuvamile zenzeka, okuyinto kuphakama at umthelela kancane, ngisho khona kwanoma isiphi ukuhlukumezeka. Iziguli nale komdlavuza ngokuvamile wazi kwezinye izimpawu, ukubona sokugembula ngesimo:

• imisipha yoma;
• kwezinso kwamazinyo;
• hypermobility amalunga omzimba;
• ngesimo okuqhubekayo ubuthulu;
• ithambo ukusonteka.

isifo emithonjeni ehlukene osteogenesis imperfecta unamagama amaningana:

• yamathambo fetus;
• osteomalacia namaphutha;
• isifo Lobstein sika;
• sokuwohloka periosteal;
• ukudleka kwamathambo, noma crystal ukugula.

Izimbangela yalesi sifo obutholakala izinguquko zofuzo eziholela ukuphazamiseka ithambo kumiswa. Kubantu, kukhona Generalized kwamathambo, namathambo abe buthakathaka.

Lesi sifo oluphakeme ezingavamile. Ngokwezibalo, butholakala 1 ingane kusukela ayizinkulungwane 10-20 abantwana abazalwa. Lesi sifo aselapheki, nakuba imithi yesimanje, kunezindlela eziningi ngcono isimo lesiguli futhi wenze ukuphila kube lula ukuze izingane isifo esidluliselwa ngofuzo ukuphi.

Kungani kukhona isifo

Odokotela bathi yizimbangela ezimbili ezihamba lesi sifo:

1. Amathambo zofuzo zenzeka, yingakho kukhona ukuntuleka collagen amaprotheni, okuyinto ezicutshini. Ngo-5% amacala uhlobo ilifa lesi sifo autosomal ephezulu kanye autosomal esikhubazayo.
2. isifo Imbangela kukhona ukuguquka kwezakhi zofuzo nokuguqulwa. Inani collagen kulokhu ilungile, kodwa amaprotheni zamagama kukhona ushintsho oyiyo. Sikwazi ukukhula amathambo evamile, kodwa kukhona thuthuva ka Ukuqina sekuyenzeka izicubu, encishisiwe izakhiwo mechanical, kukhona fragility yabo.

Izifo "Crystal amathambo" kuyinto zokugula zofuzo, ngakho ezimweni eziningi lapho livela khona izingane, ogama izihlobo banaso lesi sifo efanayo. Kodwa kunezikhathi ezingavamile lapho ingane umbukiso osteogenesis imperfecta, kuyilapho abazali engumqemane. Ukuvela kwalesi zokugula lihlotshaniswa okuvela yokwanda koshintsho nokuguqulwa.

Kunezinhlobo eziningana izifo ukuthi izimpawu izimpawu ezihlukahlukene kanye nokuthuthukiswa amathambo aqatha. Ukubuka enemininingwane esigabeni ngasinye saleso sifo.

ifomu ababuthakathaka

Mayelana 50% kweziguli osteogenesis imperfecta abe Uhlobo lokuqala yalesi sifo. isifo Crystal ezinganeni (isithombe esihlokweni) kuhambisana waphuka njalo, kodwa kokufinyelela eminyakeni ewu 10 ubungozi bokulimala ethanjeni izicubu sinciphile. Abantu engaphezu kwengu-40 ubudala kufanele aqaphele, njengoba usongo ithambo fragility kwandisa futhi.

Nge ifomu ezibuthakathaka isifo ngokuvamile baphawula ukopha we ingaphakathi acinene, lokhu kungenxa izinguquko ezithile endleleni esenza le-aorta.

ifomu Perinatal-ebulalayo

Ezimweni eziningi, uhlobo osteogenesis imperfecta yesibili kuholela ukufa komntwana esibelethweni. Lesi sifo kungabangela wazalwa kungakabi isikhathi kusaqalwa esesibelethweni.

Leli fomu sifo zihlukaniswe amaqembu amathathu, ngalinye elikwazi libhekene izici ezithile:

• Iqembu lokuqala (A). Amathambo Skull zilimele ngisho esibelethweni, okungase kunqunywe edlulisa owesifazane okhulelwe ultrasound. Ingane wayezozalwa nale zokugula kuyinto ukukhula ezingekho ngaphezu 20-30 cm. Umsebenzi ubuchopho kanye uhlelo ukuphefumula siphukile. Nale uphethwe izingane ziya sezifile noma wahlala izinsuku ezimbalwa kuphela. amacala aye alotshwa lapho "crystal" umntwana wafa ngenyanga emva kokuzalwa. Okwamanje imbangela yokufa kukhona waphuka amaningi.
• Iqembu lesibili (B). Izimpawu isifo zifana kuwukubonakaliswa ekilasini (A), kodwa umgudu wokuphefumula isebenza kahle noma has a ukuphambuka ezincane. Iziguli wonke amathambo ijabulise zimfushane, ngakho kubonakala crystal ukugula. Ubude bempilo - eminyakeni embalwa ngemva kokubelethwa.
• Iqembu lesithathu (B) - kwenzeka ezimweni ezingajwayelekile. Fetus noma bafe esibelethweni noma njengoba izinsana afe ezinsukwini ezimbalwa ngemva kokubelethwa. Ugebhezi athuthukile futhi ayinaso Ukuqina sekuyenzeka, ijabulise ithambo thinning.

Ukwanda amathambo ngobugebengu

Uhlobo lwesithathu has a isici sici - ukukhula amathambo aphukile. Lolu hlobo isifo ivelakancane. Naphezu kweqiniso lokuthi ewusana olusanda kuzalwa kwesiqu encane, isisindo salo singabasiza zivumelana kuyinsakavukela. In iziguli osteogenesis imperfecta ngokuvamile lolu hlobo kuthiwa ukuxilonga izinkinga nge isimiso sokujikeleza kwegazi. Le nkinga iba imbangela yokufa kwakhe. Ngo izinsana ne ukukhula okungavamile ithambo waphuka ngokuvamile kwenzeka ngesikhathi sokubeletha.

ukukhula lwamathambo sinqamukile

Lapho Uhlobo lwesine sifo kukhona thuthuva sína ukukhula nokwakheka kolimi skeleton. Kwaphela iminyaka eminingi, isiguli amathambo akhiwa callus, futhi ingozi ukwa kuyehla. Lapho ngineminyaka engu-30 isiguli bangezwa ukulahlekelwa kukuzwa.

Ukuze ukukhomba uhlobo sifo kanye iqembu kuzomele udlule lahlukene izinyathelo zokuxilonga. Chitha zonke izinqubo ngokushesha nje lapho umntwana wazalwa.

izindlela ukuxilongwa

Crystal isifo (izithombe ethulwa esihlokweni) kungenziwa kutholakala i-fetus esibelethweni. Funda mayelana zokugula ekhona kungenzeka ukudlula ultrasound. Uma kukhona izinsolo ukushayisana kwe zamagama collagen, zidinga ucwaningo olwengeziwe. Ukuze wenze lokhu, abesifazane abakhulelwe ukuthatha ukuhlaziywa amniotic fluid nezicubu EPITHELIAL.

Lapho nje lo mntwana wazalelwa, kubalulekile ukuqhuba luhlolo olunzulu, okubandakanya:

• ithambo biopsy;
• -X ray ukuthola waphuka;
• densitometry (cwaningo sokuqanjwa amaminerali wethambo ingaphakathi);
• ukuhlolwa igazi ukubona izinguquko DNA;
• collagen uphethwe;
• a biopsy we epidermis.

Imiphumela etholwe uvumele odokotela ukuba ukhethe isimiso sokuvivinya ngempumelelo zokwelapha.

Kangakanani lesi sifo "Crystal amathambo '?

Osteogenesis imperfecta ubhekwa isifo esingalapheki, kodwa ngosizo yokwelapha ngempumelelo kungadambisa isimo lesiguli kanye ukuqinisa uhlelo lwayo lwamathambo.

Ngokuhamba ukwelashwa kufanele zifakwe:

• magnesium potassium nosawoti;
• calcium;
• vitamin D ne nezinye izakhi.

Kunconywa ukusebenzisa umsebenzi therapy ne Physiotherapy.

Abazali bengane kwezinso ezinjalo kufanele ibhekane ukwelashwa kwengqondo, lapho uchaze ukuthi ukuqeqesha kahle ingane futhi sijwayele ukuba umphakathi nomphakathi. Lokhu kuzovumela ingane yakho ukufunda esikhathini esizayo sokugwema izimo eziyingozi lapho ingozi eliphezulu ophukayo.

Ukuthuthukiswa leso sifo angeke kuvinjelwe. Kodwa namuhla kukhona izindlela ezithuthukile yokwelashwa, kulandela okuyinto ungakwazi ngcono impilo ingane yakho. Izingane banaso lesi sifo Kutholwe crystal, akudingeki kwezinso ku kwengqondo futhi ngokomqondo, ngakho-ke kungenziwa igcwaliseke empilweni, kuyazuzisa ngempela nje ukusiza.