Uri kunetseka here nezvemapfupa emwana wako? Ngatidzidzei nezve XLH (X-Linked Hypophosphatemia)!

Mwana wako anonoka kufamba here? Kana kuti makumbo ake anoita seakakotama zvishoma here? Dzimwe nguva izvi zvinogona kunge zvakajairika. Zvisinei, dzimwe nguva panogona kunge paine chirwere chiri shure kwavo chakadai seXLH (X-Linked Hypophosphatemia) . Ngatitaurei nezvazvo zvishoma nhasi, handiti? Usazvidya moyo, ndichakubatsira kunzwisisa zvese izvi.

Zvinorevei XLH? Ngatizvinzwisise zviri nyore!

Zvichitaurwa zviri nyore, XLH (X-Linked Hypophosphatemia) chirwere chemajini. Kureva kuti, chirwere chinokonzerwa nekuchinja kudiki kwemajini mumuviri wedu. Chinonyanya kukanganisa mapfupa nemazino ako . Ungave wakambonzwa nezvechirwere chinonzi ``Rickets```? Ehe, XLH rudzi rwemaronda. Vana vadiki vane chirwere ichi vanogona kunetseka nekufamba, makumbo avo anogona kukotama. Kwete izvozvo chete, asi vanogonawo kuva nezvimwe zvinetso zvakaita sekushaya simba kwetsandanyama uye kurasikirwa nekunzwa.

Ndezvipi zviratidzo zveXLH? Ngatingwarirei zvishoma!

Zviratidzo zveXLH zvinowanzoonekwa muhudiki. Zvisinei, zvimwe zviratidzo zvinogonawo kuonekwa muhukuru.

Zviratidzo muvana vadiki:

Heano zvimwe zvinhu zvaunofanira kungwarira:

• Kuomerwa nekufamba kana kunonoka kutanga kufamba.
• Makumbo akakotama kana mabvi akagwadama, sekunge bhora guru riri kupfuura nepakati pemakumbo.
• Kurwadziwa mumapfupa netsandanyama. Mwana wako anowanzo taura here kuti, "Maiwe, makumbo angu anorwadza"?
• Kureba kwakaderera (hurefu hupfupi).
• Kunzwa sekuti hapana chandinorarama uye kuneta nguva dzese.
• Kushaya simba kwetsandanyama.
• Matambudziko emazino: kurasikirwa nemazino emwana asati asvika nguva, kurwadziwa kwezino, maronda, uye kuora kwezino nguva nenguva.
• Kuchinja kwechimiro chemusoro kana chiso. Dzimwe nguva izvi zvinogona kukonzerwa nemapfupa edehenya anosangana nekukurumidza (anonzi `craniosynostosis`).

Zvimwe zviratidzo zvinokura mukukura:

Sezvo vanhu vane XLH vachikura, zviratidzo zvinogona kuwedzera. Izvi zvinosanganisira:

• Kurasikirwa nekunzwa.
• Musoro.
• Kutetepa kwemugero wemusana (Spinal Stenosis).
• Kupfava kwemapfupa muvanhu vakuru (`Osteomalacia`).
• Kurasikirwa nepfungwa dzakanaka panguva yekufamba, kuoma kufamba.
• Kurasikirwa nemazino anogara aripo.
• Kusimba kana kusimba kwemarunda kana tsinga.
• Kuomarara kwemajoini, kuoma kukotama.
• Kuneta nguva dzose.
• Kutyoka uye kutyoka kwepseudo (ndiko kuti, apo pfupa rinoita serakatyoka paX-ray, asi harisi iro rakatyoka zvachose).

Chii chinokonzera XLH? Sei izvi zvichiitika?

Zvakanaka, ngationei kuti sei XLH ichikura. Chikonzero cheizvi ikushanduka kwemajini mu 'PHEX gene' mumuviri wedu.. Iri jini re'PHEX' rinogadzira hormone inonzi 'FGF23' ('Fibroblast Growth Factor 23'). Iri hormone re'FGF23' rinokosha zvikuru. Nekuti, rinobatsira kudzora huwandu hwephosphate mumuviri wedu. Phosphate inokosha pakuchengetedza mapfupa edu akasimba.

Izvi ndizvo zvinowanzoitika: Kana muviri wedu uine phosphate yakakwana, hormone inonzi `FGF23` inoudza itsvo kuti, "Zvakanaka, zvakwana izvozvi, ngatibvise phosphate yakawandisa muweti." Zvisinei, kana muviri uchida phosphate yakawanda, kugadzirwa kwehormone inonzi `FGF23` kunoderera.

Zvino, kuchinja kuri mujini re'PHEX' kunoita kuti muviri wedu ugadzire hormone ye'FGF23' yakawanda kupfuura yaunoda. Nekuda kwehormone iyi yakawandisa, muviri unoburitsa phosphate yakawanda kupfuura yaunoda muweti. Ndipo panorasika phosphate inodiwa pamapfupa nemazino, uye zviratidzo zveXLH zvinoonekwa. Unonzwisisa here?

Zvichitaurwa zviri nyore: shanduko mujini -> hormone yakawanda `FGF23` inogadzirwa -> phosphate yakawanda inoburitswa mumuviri -> mapfupa anoshaya simba.

XLH inogarwa nhaka here?

Ehe, chirwere ichi chinonzi XLH chinogara nhaka muchimiro cheX-linked autosomal dominant pattern . Izvi zvinoreva kuti kana munhu aine gene rine genetic variation iyoyo, acharwara nechirwere ichi. Chinogona kukanganisa vakomana zvishoma .

Zvino tarisai, musikana ane ma chromosome maviri eX, mukomana ane chromosome imwe yeX uye imwe yeY. Sezvo mumwe nemumwe wedu achigamuchira chromosome imwe yebonde (X kana Y) kubva kuvabereki vedu:

• Mukadzi ane XLH anowanzova nemukana we50% wekupa jini iri kumwana wake.
• Murume ane XLH anopfuudza jini iri kuvanasikana vake vese , asi kwete kuvanakomana vake.

Zvisinei, dzimwe nguva mwana anogona kukura neXLH kunyangwe vabereki vese vasina. Muzviitiko zvakadaro, shanduko yemajini inoitika zvisina tsarukano.

Unoziva sei kana uine XLH?

Kana chiremba achifungidzira kuti une XLH, vanogona kuita bvunzo dzakasiyana siyana, dzakadai se:

• Kuongororwa kweropa kana weti: Izvi zvinoongorora huwandu hwephosphate neFGF23 hormone .
• Kuongororwa kwemajini: Tarisa uone kana paine shanduko mujini rePHEX.
• Kuongororwa kweKuwanda kweMapfupa: Tarisa kuti mapfupa ako akasimba zvakadii.
• MaX-ray kana mimwe miedzo yemifananidzo: Tarisa chimiro chemapfupa uye kana paine chero hurema.

Ndezvipi zvinorapwa zveXLH?

Zvinosuwisa kuti hapana mushonga weXLH parizvino. Zvisinei, kune mishonga inogona kubatsira kudzora zviratidzo uye kuchengetedza hutano hwemapfupa. Chinangwa chikuru pano hachisi chekudzosa huwandu hwephosphate pahutano hwakanaka (zvingasakwanisika), asi kuchengetedza hutano hwemapfupa.

Zvinotevera zvinogona kuitwa sekurapa:

• Kupa mishonga yekuwedzera yephosphate ne calcitriol (rudzi rwevhitamini D).
• Burosumab : Iyi iantibody yemonoclonal inovhara hormone FGF23.
• Kurapa Kwemuviri (PT): Simbisa tsandanyama uye ita kuti kufamba kuve nyore.
• Kurapa Kwebasa (OT): Kunokubatsira kuita mabasa ezuva nezuva zviri nyore.
• Kuvhiyiwa kwekugadzirisa mapfupa akaremara (semuenzaniso, makumbo akakotama).
• Kupa mahormone ekukura kune avo vane hurefu hupfupi.
• Zvishandiso zvekunzwa kune vane matambudziko ekunzwa.

Pamusoro pezvo, kana zvinhu zvakaita sekutyoka kwemapfupa kana matambudziko emazino zvikaitika, zvinodawo kuvhiyiwa kana kumwe kurapwa.

Chii chingatarisirwa nemunhu ane XLH?

Kana iwe kana mwana wako aine XLH, zvakakosha kuti uongororwe uye kurapwa nekukurumidza . Izvi zvinogona kubatsira kudzivirira matambudziko akawanda. Dzimwe nguva, mamwe maronda emapfupa anogona kupera ega, kana kuti angasakonzera matambudziko. Zvisinei, mune dzimwe nguva, kuvhiyiwa kana kurapwa kwemuviri kunogona kudiwa kuti zvigadziriswe. Ipfungwa yakanaka kutaura nachiremba wako nezveizvi uye kubvunza zvaunotarisira.

Munhu ane XLH anotarisirwa kurarama kwenguva yakareba sei?

Ongororo dzakaratidza kuti hupenyu hwemunhu ane XLH hunogona kupfupika nemakore masere pane hwemunhu asina chirwere ichi. Zvisinei, nyanzvi hadzisati dzaziva kuti chii chaizvo chinokonzera mutsauko uyu muhupenyu.

XLH inogona kudzivirirwa here?

XLH chirwere chemajini, saka hachigone kudzivirirwa. Zvisinei, kana chirwere chikaonekwa nekukurumidza uye kurapwa kwakadai seBurosumab kukatanga, vana vanogona kukura zvakanaka uye vasina zviratidzo . Kana uine XLH uye uchida kuziva nezve mukana wekupa vana vemangwana chirwere ichi, zvakakosha kutaura nenyanzvi yezvemajini .

Kana ndine XLH, ndingazvitarisira sei ini/mwana wangu?

Kana uchigara neXLH, zvinhu izvi zvinogona kukubatsira kuzvitarisira iwe nemwana wako:

• Ita bvunzo dzemajini. Kana chirwere chikaonekwa, unogona kutanga kurapwa nekukurumidza.
• Enda kuna chiremba wemazino nguva nenguva kuitira kuti matambudziko emazino ako nematadza aonekwe nekukurumidza.
• Iva nechokwadi chekuenda kumisangano yekutevera zuva rega rega paunoona chiremba wako. Usapotsa zvinhu zvakaita se physiotherapy (PT) uye occupational therapy (OT). Udza chiremba wako kana uine zviratidzo zvitsva kana kana zviratidzo zvako zvikawedzera.
• Inwa mushonga wako wawakanyorerwa sezvawakanyorerwa, nenguva. Kana uine mibvunzo pamusoro pekuti ungatora sei mushonga wako, kana kuti ukasangana nemigumisiro yakaipa, udza chiremba wako.
• Ita maekisesaizi emuviri sezvakakurudzirwa nachiremba wako.Mubvunze kuti ndeapi maekisesaizi akachengeteka achasimbisa mapfupa ako.

Ndinofanira kuona chiremba rini?

Kana muine zvinokunetsai nezveutano hwemwana wenyu kana kuti vari kusangana nematambudziko ekukura kwake, taurai nachiremba wevana venyu . Iye achakurudzirai kuti muongororwe zvimwe kana zvichidikanwa.

Kana uine XLH, enda kuna chiremba nekukasika kana ukatanga zviratidzo zvitsva kana kana zviratidzo zvako zvikawedzera.

Unofanira kuenda kuEmergency Treatment Unit (ETU) riini?

Ona chiremba wemazino kana paine dambudziko remazino. Semuenzaniso:

• Kurwadziwa kwezino kwakanyanya.
• Zino rakachekwa kana kutyoka zvakanyanya.
• Zino rakasunungurwa kana kuti rava kuda kusunungurwa (Extruded tooth).
• Pundu remazino rinobuda pamudzi wezino, zvichikonzera kuzvimba kwechiso neshaya.

Mibvunzo ipi yandinofanira kubvunza chiremba?

Zvingabatsira kubvunza mibvunzo yakaita seiyi paunoona chiremba wako:

• Ndedzipi nzira dzekurapa dziripo kwandiri/kumwana wangu?
• Ndingachengetedza sei hutano hwemapfupa angu/emwana wangu?
• Unofanira kuenda kuEmergency Room (ETU) riini?
• Ndinofanira kukuonai zvakare rini?

Vana vane XLH vanosvika pakuyaruka here?

Ehe, zvechokwadi. Vana vane XLH vanoyaruka uye vanokura nekukurumidza sezvinongoita vamwe vana. Musatya izvozvo.

Pakupedzisira, zvekurangarira

Kuonekwa uine chirwere chausingazombofi wakarwara nacho kunogona kutyisa. Ungashamisika kuti ramangwana remwana wako - kana rako - richave sei neXLH.

Asi yeuka, vanhu vane XLH vanogona kurarama hupenyu hurefu, hune hutano. Kuongororwa nekukurumidza uye kurapwa kwakakodzera kunogona kubatsira zvakanyanya mukuchengetedza mapfupa ako akasimba uye ane hutano. Usambozeza kutaura pachena nachiremba wako nezvechero zvinokunetsa kana mibvunzo yaungave nayo. Iye achakwanisa kukubatsira.

XLH , X-Linked Hypophosphatemia, zvirwere zvemapfupa, zvirwere zvemajini, maronda emudumbu, phosphate, hutano hwevana, FGF23