Osteopetrosis ndi matenda a mafupa omwe amachititsa mafupa kukhala ochepa kwambiri, zomwe zimapangitsa mafupa osweka mosavuta. Osteopetrosis imachititsa maselo apadera a mafupa omwe amatchedwa osteoclasts kuti azigwira mosavuta. Kawirikawiri, osteoclasts imathyola minofu yakale ya mafupa ngati minofu yatsopano ya mafupa. Kwa anthu omwe ali ndi osteopetrosis, mafinya a mitsempha sathyola mafupa akale. Pfupa limeneli limapangitsa kuti mafupa awonjezeke.
Mutu ndi msana, kupitirira uku kumayambitsa mitsempha ndipo kumayambitsa mavuto a ubongo. M'mapfupa kumene mafupa a mafupa amawoneka, mawonekedwe ambirimbiri amatuluka m'mafupa.
Pali mitundu yambiri ya osteopetrosis: autosomal yaikulu osteopetrosis, autosomal recessive osteopetrosis, ndi pakati autosomal osteopetrosis. Mtundu umene uli nawo ndi kuuma kwa chikhalidwecho kumadalira m'mene unatengera.
Autosomal Wamkulu Osteopetrosis (ADO)
Poyamba amatchedwa matenda a Albers-Schonberg pambuyo pa sayansi ya radiologist ya Germany yomwe poyamba inalongosola izo, mtundu uwu wa osteopetrosis ndi wofatsa ndipo nthawi zambiri amapezeka akuluakulu pakati pa zaka 20 ndi 40. Akuluakulu omwe ali ndi osteopetrosis amakhala ndi ziphuphu zamphongo zomwe sizimachiritsa. Matenda a mafupa (osteomyelitis), kupweteka, nyamakazi yowonongeka , komanso kupweteka kwa mutu. ADO ndi mtundu wofatsa wa osteopetrosis. Anthu ena sangakhale ndi zizindikilo.
ADO ndi njira yowonjezereka ya osteopetrosis. Pafupifupi 1 pa 20,000 anthu ali ndi mawonekedwe awa. Anthu omwe ali ndi ADO amangolandira imodzi yokha ya jini, kutanthauza kuti inachokera kwa kholo limodzi lokha (lotchedwa autosomal dominant inheritance). Anthu omwe amapezeka ndi osteopetrosis ali ndi mwayi wopeza ana awo chikhalidwe chawo.
Autosomal Recessive Osteopetrosis (ARO)
ARO, wotchedwanso kuti matenda oopsa a infantile osteopetrosis, ndi mtundu waukulu wa osteopetrosis. ARO imayamba kukhudza mwanayo asanabadwe. Makanda omwe ali ndi ARO ali ndi mafupa opweteka kwambiri (omwe amafanana nawo ndi zikopa za choko) zomwe zimakhala mosavuta. Pa nthawi ya kubadwa, mafupa a paphewa akhoza kutha.
Malignant infantile osteopetrosis kawirikawiri imaonekera pobadwa. M'chaka choyamba cha moyo, pafupifupi 75 peresenti ya ana omwe ali ndi matenda oopsa a infantile osteopetrosis adzakhala ndi mavuto a magazi monga kuchepa kwa magazi (maselo ofiira a m'magazi) ndi thrombocytopenia (chiwerengero chochepa cha mapiritsi m'magazi). Zizindikiro zina ndizo:
- Mankhwala otsika a calcium (omwe angayambitse kupweteka)
- Kupanikizika pa mitsempha ya optic mu ubongo (kuwonetsa kuwonongeka kooneka kapena khungu)
- Kumva kutayika
- nkhope yofa ziwalo
- Nthawi zambiri mafupa amathyoka
Mtundu uwu wa osteopetrosis siwowoneka, ndipo umakhudza anthu 1 mwa 250,000. Matendawa amapezeka pamene makolo onse ali ndi jini losadziwika lomwe laperekedwa kwa mwanayo (wotchedwa autosomal recessive inheritance). Makolo alibe matenda, ngakhale atanyamula jini. Mwana aliyense ali nawo ali ndi mwayi umodzi mwa kubadwa ndi ARO.
Kuchokera kumalo osatengedwera, moyo wapakati wa ana omwe ali ndi ARO ndi wosachepera zaka khumi.
Pakati pa Autosomal Osteopetrosis (IAO)
Autosomal osteopetrosis ndi mtundu wina wochepa wa osteopetrosis. Mavuto ochepa chabe a chikhalidwewa atchulidwa. IAO ikhoza kulandira kuchokera kwa kholo limodzi kapena onse awiri, ndipo nthawi zambiri imakhala yooneka ali mwana. Ana omwe ali ndi IAO akhoza kukhala ndi chiopsezo chowonjezereka cha fupa, kuphatikizapo kuchepa kwa magazi m'thupi. Ana omwe ali ndi IAO sakhala ndi zoopsa zowononga mafupa a ana omwe ali ndi ARO. Komabe, ana ena akhoza kukhala ndi malo osokonezeka a calcium mu ubongo wawo, zomwe zimapangitsa kulemala nzeru.
Mkhalidwewu umagwirizananso ndi renal tubular acidosis, mtundu wa matenda a impso.
OL-EDA-ID
Nthawi zambiri, osteopetrosis ikhoza kulandira kudzera mu X chromosome. Izi zimadziwika kuti OL-EDA-ID, chidule cha zizindikiro zomwe zimayambitsa - osteopetrosis, lymphedema (kutupa kwachilendo), anhidrotic ectodermal dysplasia (matenda omwe amakhudza khungu, tsitsi, mano, ndi matumbo a thukuta), komanso matenda a immunodeficiency. Anthu omwe ali ndi OL-EDA-ID amatha kudwala matenda opatsirana, omwe amatha.
Njira Zothandizira
Mitundu yonse ya akulu ndi ubwana wa osteopetrosis ikhoza kupindula ndi Actimmune jekeseni. Pakadali (interferon gamma-1b) imachepetsa kuwonjezeka kwa matenda oopsa a infantile osteopetrosis chifukwa amachititsa kuwonjezeka kwa fupa la mafupa akale komanso ku maselo ofiira a magazi.
Kugwiritsira ntchito mafupa a mafupa ndi njira yokhayo yothandizira odwala infantile osteopetrosis. Kugwiritsira ntchito mafuta a mitsempha kumakhala ndi zoopsa zambiri, koma phindu - kupeĊµa kufa kwa ana - kungapitirire kuopsa kwake.
Mankhwala ena amaphatikizapo zakudya, prednisone (kumathandiza kusintha kuchuluka kwa maselo a magazi), komanso mankhwala othandizira .
Zotsatira:
National Institutes of Health. Information kwa Odwala za Osteopetrosis.
Zolemba za Kunyumba za Genetics. Osteopetrosis. (2016)