Mapfupa nemazino ako hazvina simba here? Ngatidzidzei nezvechirwere ichi chisingawanzoitiki (Hypophosphatesia)

Wakambonzwa nezvechirwere apo mapfupa nemazino zvinopera simba uye zvinopera simba here? Pamwe wakamboona mumwe munhu mumhuri yako kana mwana weshamwari yako aine dambudziko iri. Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha kuziva nezvacho. Chinonzi hypophosphatasia, kana HPP.

Chii chinonzi Hypophosphatemia?

Zvichitaurwa zviri nyore, hypophosphatasia (HPP) chirwere chisingawanzoitika mumajini. Chinonyanya kukanganisa kukura kwemapfupa nemazino ako. Kutaura chokwadi, chirwere ichi chinoita kuti mapfupa nemazino ako asave akasimba kana kuti akobvu sezvaanofanira kuva. Mukurapa, haaite mineral kana calcification zvakanaka. Chinowanikwa muchikamu chechirwere chemapfupa chemetabolic.

Funga nezvazvo, mapfupa edu akaita sembiru dzekongiri muchivako, anofanira kusimba. Anoda huwandu hwakakwana hwemaminerari akaita secalcium nephosphorus. Maitiro aya haaitike zvakanaka mumuviri wemunhu ane HPP. Nekuda kweizvozvo, mapfupa anova akapfava uye asina simba.

Kuoma kweHPP kunogona kusiyana zvikuru kubva pamunhu kusvika pamunhu. Vamwe vanhu vanogona kunge vaine kusuruvara kwakapfava sekunge kukuvara kunokonzerwa netsaona dzinoitika kakawanda pazera repakati nepakati. Zvisinei, mune dzimwe nguva, kunogona kunge kwakanyanya zvekuti mwana anogona kufira mudumbu (kufa kwemwana akafa) kana mukati memazuva mashoma ekuzvarwa.

Ndeapi marudzi makuru e hypophosphatesia (HPP)?

HPP yakakamurwa kuita mhando nomwe huru. Idzi dzakakamurwa zvichienderana nezera rinotanga zviratidzo uye kuoma kwechirwere. Ngatitarisei kuti ndedzipi, kubva pane dzakanyanya kuoma kusvika kune dzisina kunyanya kuoma:

• HPP yakanyanya kukuvadzwa panguva yekusununguka: Iyi ndiyo mhando yakanyanya kukuvadzwa.
• HPP isina kusimba inoitika mwana asati aberekwa (perinatal): Muchiitiko ichi, mapfupa anogona kuonekwa.
• HPP yevacheche: Rudzi rwechirwere chinoonekwa mushure mekuzvarwa.
• HPP yehudiki: Izvi zvinogonawo kuva zvishoma kana zvakanyanya.
• HPP yemunhu mukuru: Zviratidzo zvinoonekwa mushure mekukura.
• Odontohypophosphatasia: Izvi zvinongokanganisa mazino chete. Mazino evana anobuda nekukurumidza.
• Pseudohypophosphatasia: Izvi hazviwanzoitiki. Kunyangwe huwandu hwealkaline phosphatase muropa huri hwakajairika, zviratidzo zvakafanana nezve HPP yevana vadiki.

Chirwere ichi chinonzi HPP chakajairika zvakadii?

Kutaura zvazviri, HPP chirwere chisingawanzoitiki muvanhu vose. Nyaya dzakakomba dzeHPP dzinobata anenge mwana mumwe chete pavana 100,000 kusvika mumwe chete pavana 300,000 vanoberekwa gore rega rega. Zvisinei, mhando dzisina kuoma dzechirwere ichi, dzakadai seHPP yevakuru, hadziwanzowanikwe zvakanyanya. Izvi zvinoreva kuti anenge munhu mumwe chete pavanhu 6,000 kusvika 7,000 anogona kubatwa nacho.

Chirwere ichi chakajairika munharaunda yeMennonite muManitoba, Canada, uko zvinonzi mwana mumwe chete pavana 2,500 anowana HPP yakanyanya.

Ndezvipi zviratidzo zve hypophosphatesia (HPP)?

Zviratidzo zveHPP zvinosiyana zvakanyanya. Zviratidzo zvinogona kusiyana kunyangwe mumhuri imwe chete. Zviratidzo zvaunosangana nazvo zvinowanzoenderana nerudzi rweHPP yaunayo.

Zviratidzo zvePerinatal HPP

Vanachiremba vanowanzoona zvinhu izvi zvemwana ari mudumbu panguva yekuongororwa kweultrasound panguva yekuzvitakura:

• Maoko nemakumbo mapfupi, akakotama, asina kukura zvakanaka (asina zvicherwa zvakakwana).
• Mbabvu dzechipfuva dzisina kukura zvakanaka.
• Kuremara kwechipfuva (chipfuva chakapfava).

Dzimwe mimba dzinogona kuguma nekuzvarwa kwemwana akafa. Vamwe vana vanogona kufa mukati memazuva mashoma ekuzvarwa nekuda kwekushaya simba kwekufema kunokonzerwa nekushaya simba kwechipfuva.

Zviratidzo zveHPP isina njodzi yekusununguka kwepamuviri

Vana vane chirwere ichi vanogona kuzvarwa vakakotama maoko nemakumbo. Vanachiremba vanogona kuona izvi panguva yekuongorora ultrasound panguva yekuzvitakura.

Zvisinei, mushure mekuzvarwa, mapfupa aya anovandudzika zvishoma nezvishoma. Zviratidzo zvepashure zvinogona kubva pakuva neHPP yevana kusvika kuodontohypophosphatasia.

Hunhu hweHPP yeVacheche

Zviratidzo zveHPP yevana vadiki zvinowanzotanga kuoneka pazera remwedzi mitanhatu. Zvinosanganisira:

• Matambudziko ekuwedzera huremu nekukura.
• Kurasikirwa nemazino emwana ari mudiki nekukurumidza.
• Kusangana kusina kujairika kwemapfupa edehenya (craniosynostosis), izvo zvinogona kukonzera shanduko muchimiro chemusoro (brachycephaly).
• Kumanikidzwa kwakanyanya mukati medehenya (BP yepamusoro mukati memusoro). Izvi zvinogona kukonzera musoro nemaziso akatumbuka (proptosis).
• Mapfupa akapfava, akaremara akafanana nemapfupa emudumbu.
• Kukura kwemapfupa muruoko nepazvitsitsinho.
• Kuremara kwechipfuva nembabvu uye kutyoka kwadzo.
• Kutadza kufema zvakanaka.
• Nyaya dzefivha inoperekedzwa nekurwadziwa kwemapfupa.
• Kushaikwa kwetsinga dzemuviri (hypotonia). Vamwe vanhu vanodanawo izvi kuti "floppy infant syndrome".
• Kuwedzera kwecalcium muropa (hypercalcemia). Izvi zvinogona kukonzera kurutsa, kuvimbiwa, kuneta, uye kurasikirwa nechido chekudya.
• Kashoma, pfari dzinogona kuitika.

Mune zvimwe zviitiko, matambudziko aya ekuwedzera kwemineral mumapfupa muvana vadiki vanogona kuzvigadzirisa panguva yehudiki. Zvisinei, zvakakosha kutsvaga kurapwa kudzivirira matambudziko asingaperi (semuenzaniso, kupfupika kwehurefu, kuremara kwemapfupa).

Zviratidzo zveHPP yeVana

HPP yehudiki inogona kubva padiki kusvika pakanyanya. Zviratidzo zvinogona kusanganisira:

• Kurasikirwa kwemaminerari emapfupa ane chekuita nekukwegura uye kutyoka kwemapfupa (ichi ndicho chinhu chikuru cheHPP isina kusimba).
• Kusangana nekukurumidza kwemapfupa edehenya (craniosynostosis) uye zvichikonzera kuwedzera kwekumanikidzwa mukati medehenya (BP yepamusoro).
• Kuremara kwemapfupa kunotanga kuonekwa pazera remakore maviri kusvika matatu.
• Kurwadziwa kwemapfupa nemajoini.
• Kurasikirwa nemazino anodonha mazino nguva isati yakwana. Kazhinji mazino rimwe kana akawanda anodonha asati asvitsa makore mashanu.
• Kushaya simba uye kunonoka kufamba (kusatora danho rekutanga usati wasvika mwedzi gumi nemisere).
• Kufamba-famba.

Dzimwe nguva, HPP yehudiki inogona kungoerekana yavandudzika muhudiki. Zvisinei, matambudziko anogona kudzoka muhudiki kana kuti muhudiki.

Zviratidzo zveHPP yemunhu mukuru

Zviratidzo zveHPP yemunhu mukuru zvakasiyana-siyanawo. Zvinosanganisira:

• Kupfava kwemapfupa (osteomalacia).
• Kurwadziwa kwemapfupa.
• Kurasikirwa nemazino echigarire (vamwe vakuru vane HPP vanogona kunge vaine maronda vachiri vana, kana kuti vangave vakarasikirwa nemazino avo emwana vasati vasvika nguva).
• Kutyoka, kunyanya kutyoka kwemapfupa emetatarsal kana kuti pseudofractures (nzvimbo dzisina kusimba) dzefemur.
• Kurwadziwa kusingaperi uye kushaya simba kunokonzerwa nekupwanyika kwemapfupa nguva nenguva.
• Calcium inoungana yakakomberedza majoini, zvichikonzera kuzvimba kwemajoini (calcific periarthritis) uye/kana kurwadziwa.
• Kurwadziwa kwakakomba kwemajoini kamwe kamwe (chondrocalcinosis kana pseudogout, kunokonzerwa nekuiswa kwecalcium mu cartilage).

Zviratidzo zveOdontohypophosphatesia

Rudzi urwu runokanganisa mazino ako chete - mapfupa emapfupa ako haabatwe. Chiratidzo chikuru ndechekuti mazino evana anodonha nguva isati yakwana, zvichireva kuti panguva yehucheche kana hudiki. Vamwe vanhu vanogonawo kurasikirwa nemazino avo echigarire vasingatarisiri pavanokura.

Chii chinokonzera hypophosphatesia (HPP)?

Chikonzero chikuru cheHPP imhando dzakasiyana dzemajini. Zvikuru sei, inokonzerwa nekuchinja kwemajini eALPL . Kazhinji, jini reALPL rinorayira muviri wedu kugadzira enzyme inonzi Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . Iyi enzyme inokosha kuti mapfupa nemazino edu awane mineral zvakanaka, zvichireva kuti anova akasimba.

Funga nezve enzyme iyi yeTNSALP semainjiniya mukuru mufekitori inogadzira mapfupa. Kana ikasashanda zvakanaka, mhando yezvinhu (kureva mapfupa) zvinobuda mufekitori zvichadzikira.

Kana shanduko mujini reALPL dzikatadzisa enzyme yeTNSALP kugadzirwa nemazvo, haigone kuita basa rayo nemazvo.

Kucheneswa kwemapfupa inzira iyo matrix yemapfupa inozadzwa nezvinhu zvakasimba zvakaita secalcium phosphate. Matrix iyi yemapfupa inoumbwa nemapuroteni akadai secollagen nemaminerari akadai secalcium nephosphate.

Mhando dzakanyanya kuipa dzeHPP dzinokonzerwa nekuchinja kwemajini kunovhara zvachose mashandiro eenzyme yeTNSALP. Dzimwe shanduko dzemajini dzinoderedza mashandiro eenzyme yeTNSALP, asi dzisingaidzivise zvachose, dzinokonzera mhando dzisina kusimba dzechirwere ichi.

Hypophosphatesia (HPP) inogarwa nhaka sei?

Mhando dzakakomba dzeHPP, dzakadai seHPP inoberekwa, dzinogara nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti vabereki vese vanofanira kupa mwana wavo gene rakachinjwa reALPL. Kazhinji, vabereki havana zviratidzo zveHPP uye havazivi kuti vane shanduko yemajini, saka mwana anogona kushamisika kana chirwere chacho chikatanga.

Mhando dzisina kusimba dzeHPP dzinogona kugara nhaka mu autosomal recessive kana autosomal dominant pattern. Autosomal dominant pattern zvinoreva kuti mwana anogona kuva nechirwere ichi kunyangwe mubereki mumwe chete ndiye anogara nhaka gene reALPL rakachinja .

Hypophosphatemia (HPP) inoonekwa sei?

Vanachiremba vanoshandisa bvunzo dzemuviri, bvunzo dzemifananidzo, uye bvunzo dzemurabhoritari kuti vaongorore HPP. Chiremba anoziva nezvechirwere ichi anogona kukurumidza kuchiona. Zvisinei, chiremba asinganyatsozivi HPP anogona kutora nguva kuti aongorore chirwere chacho.

Miedzo inobatsira kuongorora HPP ndeiyi:

• Kuongororwa kweropa kweAlkaline Phosphatase (ALP): ALP ienzyme inobatanidzwa nekuwanda kwemaminerari mumapfupa. Vanhu vane HPP vanowanzova nemazinga eALP akaderera nekukura . Zvisinei, bvunzo iyi yoga haigone kusimbisa chirwere ichi, sezvo mamwe mamiriro ezvinhu anogonawo kukonzera mazinga eALP akaderera.
• Kuongororwa ropa kwePyridoxal 5′-phosphate (PLP): PLP imhando yevhitamini B6. Vanhu vane HPP vanowanzova nehuwandu hwakawanda hwePLP.
• X-rays: Muzviitiko zvakakomba zveHPP, X-rays inogona kuratidza hurema hwemapfupa hwakanangana nechirwere ichi. Zvisinei, nekuda kwekuti pane zvimwe zvinokonzera matambudziko emapfupa, chiremba wemwana wako angasaziva kuti HPP ndiyo chaiyo.
• Kuongororwa kwemajini: Izvi zvinogona kuona kusiyana kwejini reALPL kunokonzera HPP. Zvisinei, bvunzo iyi haiwanikwe muma laboratori ese.

Hypophosphatemia (HPP) inorapwa sei?

Parizvino hapana mushonga weHPP. Zvisinei, Asfotase alfa (Strensiq®)Mushonga mukuru weizvi ijekiseni inonzi TNSALP. Inopihwa sejekiseni repasi peganda uye inoshanda senzira yekurapa inotsiva ma enzyme. Inogona kushandiswa kuvana nevakuru vane zviratidzo zvinotanga vachiri vadiki.

Ongororo dzakaratidza kuti mushonga weAsfotase alfa unogona kuvandudza kufema, huwandu hwecalcium, hutano hwemapfupa, uye kurarama kwevana vane HPP vacheche nevechidiki.

Mamwe marapirwo anotarisa pakugadzirisa zviratidzo nematambudziko chaiwo. Mwana wako angangoda timu yenyanzvi kuti imurape. Izvi zvinogona kusanganisira:

• Vanachiremba vevana
• Vanachiremba vemapfupa
• Vanachiremba vezvirwere zve endocrinologists vevana
• Vanachiremba vepfungwa vevana
• Vanachiremba vezvirwere zvetsinga
• Vanachiremba vemazino (nyanzvi dzemazino)
• Nyanzvi dzekurapa marwadzo
• Varapi vemuviri
• Varapi vepabasa

Mimwe mienzaniso yemishonga inotsigira:

• Rutsigiro rwekufema rwematambudziko ekufema.
• Kurapa nengowani kana kuvhiyiwa kwecraniosynostosis.
• Kuvhiyiwa kweshunt kana dehenya kurapa kumanikidzwa kwakanyanya mukati medehenya (BP yemukati memusoro).
• Vitamin B6 yekubatwa nekubatwa neHPP.
• Kutarisirwa kwemazino nguva dzose kubva pazera diki kuti uongorore matambudziko emazino.
• Kuderedza calcium muropa, mamwe madhiraivha emvura, uye majekiseni e calcitonin zvinogona kukonzera calcium yakawanda muropa (hypercalcemia).
• Mishonga isingashandisi masteroidal anti-inflammatory (NSAIDs) yekurwadziwa kwemapfupa nemajoini.
• Kutyoka kwemapfupa kungada kuisirwa masimbi, kuchekwa kwemapfupa, kana kuvhiyiwa kugadzirisa mapfupa akatyoka (internal fixation).

Chii chandinofanira kutarisira kana mwana wangu aine hypophosphatemia (HPP)?

Zvakakosha kurangarira izvi: Hapana vanhu vaviri vane HPP vanobatwa nenzira imwechete. Hapana anogona kufanotaura kuti mwana wako achakura sei nechirwere ichi. Chinhu chakanakisa chaungaita ndechekuti, kana zvichibvira, utaure nachiremba ane hunyanzvi mukutsvaga nekurapa HPP. Vanogona kukuudza zviratidzo kana shanduko dzekutarisira uye ramangwana.

Ko hypophosphatesia (HPP) inogona kudzivirirwa here?

Sezvo HPP iri chirwere chinokonzerwa nemajini , haigone kudzivirirwa.

Kana uchinetseka nezvekupa vana vako chirwere chehypophosphatemia kana zvimwe zvirwere zvemajini, taura nachiremba wako nezvemazano ezvemajini .

Ndingachengeta sei mwana wangu ane HPP?

Kana mwana wako aine HPP, zvakakosha kuti iwe ubatsire kuti uve nechokwadi chekuti anowana rubatsiro rwekurapa rwakanakisisa. Vamwe vanachiremba vaunoona vanogona kunge vasina ruzivo rwakawanda nezvechirwere ichi chisingawanzoitiki. Saka, nekutsigira mwana wako, unogona kumubatsira kuti awane hupenyu hwakanaka.

Iwe nemhuri yako mungangodawo kufunga nezvekubatana neboka rekutsigirana. Izvi zvichakupai mukana wekusangana nevamwe vakambosangana nezviitiko zvakafanana nezvako, kutaura, uye kugovana mazano.

Mwana wangu anofanira kuona chiremba rini?

Kana mwana wako aine hypophosphatemia, anofanira kusangana nechikwata chake chekurapa nguva nenguva kuti arapwe uye aongorore zviratidzo.

Kunzwisisa chirwere cheHPP chemwana wako kunogona kunetsa. Asi yeuka, timu yehutano yemwana wako ichavapa hurongwa hwakasimba hwekutarisira nekutarisa hwakanangana navo. Zvakakosha kuve nechokwadi chekuti iwe, mwana wako, nemhuri yako munowana rutsigiro rwavanoda, uye kuti murambe makatarisisa hutano hwemwana wenyu. Timu yehutano yemwana wenyu iripo kuti ikutsigirei nhanho imwe neimwe yenzira.

Ndeipi meseji yatinoda kutora kubva munyaya iyi?

Hypophosphatasia chirwere chisingawanzoitiki chinokanganisa kusimba kwemapfupa nemazino. Kuoma kwechirwere ichi kunosiyana kubva pamunhu kusvika pamunhu. Kuongororwa nekukurumidza uye kurapwa kwakakodzera ndizvo zvakakosha.

• Nekuti HPP chirwere chinokonzerwa nemajini , hachigone kudzivirirwa.
• Zviratidzo zvinogona kutanga chero nguva, kubva pakuzvarwa kusvika pakuva munhu mukuru.
• Chinhu chinonyanya kukosha kuziva chirwere ichi nekukurumidza uye kutsvaga kurapwa navanachiremba vane hunyanzvi.
• Mishonga iripo (kunyanya asfotase alfa) inogona kudzora zviratidzo uye kuvandudza hupenyu.
• Kana muine mimwe mibvunzo nezvenyaya iyi, musatya kutaura nachiremba wenyu. Vachakubatsirai.

Yeuka kuti hausi wega. Kune zvinhu zvinobatsira uye mapoka ekutsigira anogona kubatsira vanhu vanorarama nezvirwere izvi nemhuri dzavo.

Hypophosphatesia , HPP, zvirwere zvemajini, kushaya simba kwemapfupa, zvirwere zvemazino, zvirwere zvevana, alkaline phosphatase