I-Osteopetrost isifo sesifuba esibangela ukuba amathambo abe nzima kakhulu, okukhokelela ekubeni amathambo aphukile. I-Osteopetrosis ibangela iithambo ezikhethekileyo zeethambo ezibizwa nge-osteoclasts ukuba zisebenze ngokungavamile. Ngokuqhelekileyo, i-osteoclasts iphula amanxeba amathambo endala njengoko amathambo amathambo amatsha ekhula. Kwabantu abane-osteopetrosis, i-osteoclasts ayichithanga i-tissue yamathambo endala. Eli thambo lakha lenza ukuba amathambo angene.
Kulo ntloko kunye nomthunzi, lo mgxobhozo ubeka uxinzelelo kwiimbilini kwaye kubangele iingxaki zeengxaki. Emathanjeni apho i-marrow bone ithoba iifom, izihlwele ezigqithisileyo ziphuma ngaphandle komnatha wethambo.
Kukho iintlobo ezininzi ze-osteopetrosis: i-autosomal e-osteopetrosis ephezulu, i-autosomal osteopetrosis, kunye ne-autosomal osteopetrosis. Uluphi uhlobo onalo kunye nobunzima balo mqathango kuxhomekeke kwindlela elalizuze ngayo.
I-Autosomal ephezulu i-Osteopetrosis (i-ADO)
Ekuqaleni kuthiwa yi-Albers-Schonberg isifo emva kwe-radiologist yaseJamani eyayiyichaza okokuqala, le ndlela ye-osteopetrosis inobumnene kwaye idlalwa ngabantu abadala phakathi kweminyaka engama-20 no-40 ubudala. Abantu abadala abane-osteopetrosis banamaxesha amaninzi aphulukana namathambo angaphilanga kakuhle. Usulelo lwe-Bone (u-osteomyelitis), intlungu, isifo se- arthritis , kunye neentloko ziya kwenzeka. I-ADO ifom ye-osteopetrosis. Abanye abantu abanakho ukufumana iimpawu ezibonakalayo.
I-ADO yindlela eqhelekileyo ye-osteopetrosis. Phantse abantu abayi-20 000 banalo le fom yimeko. Abantu abane-ADO bafumana ilifa elilodwa lomgubo, oku kuthetha ukuba livela kumzali omnye kuphela (owaziwa njengeli-autosomal inheritance). Abo bafumene i-osteopetrosis baneepesenti ezingama-50 zokudlulisa le meko kubantwana babo.
I-Autosomal Recessive Osteopetrosis (ARO)
I-ARO, eyaziwa nangokuthi i-osteopetrosis engumntwana oyingozi, yindlela ephezulu ye-osteopetrosis. I-ARO iqala ukuphazamisa umntwana ngaphambi kokuba azalwe. Iintsana kunye ne-ARO zinamathumba amakhulu (ukungqinelana kwazo okuthelekiswayo neentonga zesiko) eziphuka kalula. Ngethuba lokuzalwa, amathambo emagxala angaphula.
I-osteopetrosis encinci i-Malignant encinci ibonakala ibonakala ekuzalweni. Ngomnyaka wokuqala wobomi, malunga neepesenti ezingama-75 zabantwana abane-osteopetrosis ezinobunzima ziza kuhlakulela iingxaki zegazi ezifana ne-anemia (inani eliphantsi leeseli ezibomvu zegazi) kunye ne-thrombocytopenia (inani eliphantsi leeplatelet egazini). Ezinye iimpawu ziquka:
- Amanqanaba aphantsi e-calcium (enokubangela ukukhutshwa)
- Uxinzelelo kwi-nertic optic kwingqondo (ekhokelela ekubheni ukubonakala okanye ukungaboni)
- Ukulahleka kokuva
- ukukhubazeka komzimba
- Iintlungu zaso
Le fom ye-osteopetrosis ayiqhelekanga, ichaphazela abantu abayi-250,000. Le meko ivela xa bobabini abazali benomdla ongaqhelekanga ogqithiselwe kumntwana (obizwa ngokuba yi-autosomal heritage excessive). Abazali abanalo isifo, nangona bephethe i-gene. Umntwana ngamnye unalo 1 kwithuba eli-4 lokuzalwa ne-ARO.
Ukushiya kungaphendulwa, umyinge wokuphila wabantwana abane-ARO ungaphantsi kweminyaka elishumi.
I-Autosomal Osteopetrosis (IAO ephakathi)
I-autosomal osteopetrosis esezantsi yindlela enye engaqhelekanga ye-osteopetrosis. Iimeko ezimbalwa kuphela zengxelo ziye zabikwa. IAO inokufumana ilifa kumzali omnye okanye bobabini, kwaye ngokubonakalayo kubonakala ngexesha lobuncinci. Abantwana abane-IAO banokungena kwengozi yokuphuka kwethambo, kunye ne-anemia. Abantwana abane-IAO abanalo isifo somsongo osongela ubomi obunokukhubazeka ukuba abantwana abane-ARO banalo. Nangona kunjalo, abanye abantwana banokuhlakulela i-calcium engafanelekanga kwiingqondo zabo, ezikhokelela ekukhubazekeni kwengqondo.
Le meko idibaniswa ne-renal acid i-tubular acidosis, uhlobo lwesifo sentso.
OL-EDA-ID
Kwiimeko ezinqabileyo kakhulu, i-osteopetrosis inokufumana ifa le-X nge-chromosome. Oku kwaziwa ngokuba yi-OL-EDA-ID, isishwankathelo seempawu ezibangela imeko - i-osteopetrosis, i-lymphedema (ukuvuvukala okungavumelekanga), i-anhidrotic ectodermal dysplasia (imeko echaphazela ulusu, iinwele, amazinyo, kunye nezigulane zomzimba), kunye ne-immunodeficiency. Abantu abane-OL-EDA-ID baxhomekeke kwizifo ezinzima, izifo eziphindaphindiweyo.
Izinyango Zonyango
Iintlobo ze-osteopetrosis ezinokudala kunye nobuntwana zingenelwa kwii-injection zangaphandle. I-interferon ye-gamma-1b ibambezela ukuqhubela phambili kwe-osteopetrosis engumntwana ongeyingozi ngoba ibangela ukunyuka kwe-bone resorption (ukuchithwa kwamathambo esifuba endala) kunye nokuveliswa kweefom yegazi.
Ukutshintshwa komnquba wethambo ngowona kuphela unyango olupheleleyo olukhoyo lwe-osteopetrosis engumntwana ononya. Ukutsalwa komnxeba we-Bone kunomngcipheko omkhulu, kodwa iingenelo-ukuphepha ukufa kwabantwana - kunokugqithisa ingozi.
Ezinye iindlela zonyango ziquka ukutya okunomsoco, i-prednisone (inceda ukuphucula isibalo seeseli zegazi), kunye nokunyangwa komzimba nokusebenza .
Imithombo:
AmaZiko eZiko lezeMpilo. Ulwazi malunga neziguli malunga ne-Osteopetrosis.
I-Reference Reference Home. Osteopetrosis. (2016)