Ingaba amathambo namazinyo akho abuthathaka? Masifunde ngesi sifo singaqhelekanga (iHypophosphatesia)

Ngaba wakha weva ngesifo apho amathambo namazinyo aba buthathaka aze aqhekeke? Mhlawumbi ukhe wabona umntu kusapho lwakho okanye umntwana womhlobo enale ngxaki. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyazi. Ibizwa ngokuba yi-hypophosphatasia, okanye i-HPP.

Yintoni iHypophosphatesia?

Ngamafutshane, i-hypophosphatasia (HPP) yimeko engaqhelekanga yemfuza. Ichaphazela kakhulu indlela amathambo namazinyo akho akhula ngayo. Ngokuchanekileyo, esi sifo sibangela ukuba amathambo namazinyo akho angabi namandla okanye abe makhulu njengoko kufanele abe njalo. Ngokwezonyango, awabi namaminerali okanye angabi na-calcification ngokufanelekileyo. Iwela phantsi koluhlu lwesifo samathambo esibangelwa yi-metabolic bone.

Cinga nje, amathambo ethu afana neentsika zekhonkrithi kwisakhiwo, kufuneka aqine. Afuna isixa esifanelekileyo seeminerali ezifana necalcium kunye nephosphorus. Le nkqubo ayenzeki kakuhle emzimbeni womntu oneHPP. Ngenxa yoko, amathambo ayathamba aze abe buthathaka.

Ubunzima be-HPP bungahluka kakhulu kumntu nomntu. Abanye abantu banokuba nayo kancinci njengokuqhekeka koxinzelelo ngenxa yeengozi ezixhaphakileyo kubantu abakwiminyaka ephakathi. Nangona kunjalo, kwezinye iimeko, inokuba nzima kangangokuba umntwana angafela esibelekweni (ukuzalwa kwengane ifile) okanye kwiintsuku ezimbalwa emva kokuzalwa.

Ziziphi iintlobo eziphambili ze-hypophosphatasia (HPP)?

I-HPP yahlulwe yaba ziintlobo ezisixhenxe eziphambili. Ezi zahlulwe ngokweminyaka apho iimpawu ziqala khona kunye nobunzima besifo. Makhe sijonge ukuba zeziphi, ukusuka kwezona zinzima ukuya kwezona zinzima:

• I-HPP ebuhlungu kakhulu yokuzalwa: Olu lolona hlobo lubi kakhulu.
• I-HPP ebuthathaka eyenzeka ngaphambi kokuzalwa (ekubelekeni): Kule meko, ukukhula kwamathambo kunokubonwa.
• I-HPP yosana: Uhlobo oluvela emva kokuzalwa.
• I-HPP yoBuntwana: Oku kungaba yinto ethambileyo okanye enzima.
• I-HPP yabantu abadala: Iimpawu zibonakala emva kokuba umntu ekhulile.
• I-Odontohypophosphatasia: Oku kuchaphazela amazinyo kuphela. Amazinyo omntwana aphuma ngokukhawuleza.
• I-Pseudohypophosphatasia: Oku kunqabile kakhulu. Nangona inqanaba le-alkaline phosphatase egazini liqhelekile, iimpawu ziyafana nezo ze-HPP yosana.

Ixhaphake kangakanani le sifo ibizwa ngokuba yi-HPP?

Enyanisweni, i-HPP sisifo esingaqhelekanga kuluntu ngokubanzi. Amatyala aqatha e-HPP achaphazela malunga ne-1 kwi-100,000 ukuya kwi-1 kwi-300,000 yeentsana ezizalwa minyaka le. Nangona kunjalo, iintlobo ezithambileyo zesifo, njenge-HPP yabantu abadala, azixhaphakanga kakhulu. Oko kuthetha ukuba malunga ne-1 kubantu abangama-6,000 ukuya kuma-7,000 banokuchaphazeleka.

Esi sifo sixhaphake kakhulu kuluntu lwamaMennonite eManitoba, eKhanada, apho kuxelwe ukuba malunga nesinye kwiintsana ezingama-2,500 sifumana isifo seHPP esiqatha.

Zithini iimpawu ze-hypophosphatasia (HPP)?

Iimpawu ze-HPP zahlukile kakhulu. Iimpawu zinokwahluka nakusapho olunye. Iimpawu ozifumanayo zihlala zixhomekeke kuhlobo lwe-HPP onayo.

Iimpawu ze-HPP yokukhulelwa ngexesha lokukhulelwa

Oogqirha banokubona ezi mpawu ze-fetus ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa:

• Iingalo nemilenze emifutshane, egobileyo, engakhulanga kakuhle (engenazimbiwa ngokwaneleyo).
• Iimbambo zesifuba ezingaphuhliswanga kakuhle.
• Ukukhubazeka kwesifuba (isifuba esithambileyo).

Ezinye iimveku zinokuphela ngokuzala umntwana eswelekile. Ezinye iintsana zinokufa kwiintsuku ezimbalwa emva kokuzalwa ngenxa yokuphazamiseka kokuphefumla okubangelwa kubuthathaka besifuba.

Iimpawu ze-HPP engeyongozi kwi-perinatal

Iintsana ezinale meko zinokuzalwa zigobile iingalo nemilenze. Oogqirha banokukubona oku ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa.

Nangona kunjalo, emva kokuzalwa, ezi ngxaki zamathambo ziyaphucuka kancinci kancinci. Iimpawu zamva zinokuqala kwi-HPP yosana ukuya kwi-odontohypophosphatasia.

Iimpawu ze-HPP yosana

Iimpawu ze-HPP yosana zihlala ziqala ukubonakala malunga neenyanga ezintandathu ubudala. Ziquka:

• Iingxaki zokukhula kunye nokwanda kobunzima.
• Ukulahlekelwa ngamazinyo omntwana kwangethuba.
• Ukudibana okungaqhelekanga kwamathambo entloko (craniosynostosis), okunokubangela utshintsho kwimo yentloko (brachycephaly).
• Uxinzelelo oluphezulu ngaphakathi kwentloko (uxinzelelo oluphezulu lwegazi ngaphakathi kwentloko). Oku kunokubangela iintloko ezibuhlungu kunye nokudumba kwamehlo (i-proptosis).
• Amathambo athambileyo, aneempazamo afana nee-rickets.
• Ukwandiswa kwamathambo esihlahleni nasemaqakaleni.
• Ukukhubazeka kwesifuba neembambo kunye nokuqhekeka kwazo.
• Ubunzima bokuphefumla.
• Amatyala omkhuhlane ahamba nentlungu yamathambo.
• Ukungabikho kwemisipha (hypotonia). Abanye abantu babiza le "floppy infant syndrome".
• Ukwanda kwamanqanaba e-calcium egazini (hypercalcemia). Oku kunokubangela ukuhlanza, ukuqhina, ukudinwa, kunye nokuphelelwa ngumdla wokutya.
• Amaxesha amaninzi, ukuxhuzula kusenokuvela.

Kwezinye iimeko, ezi ngxaki zokwanda kwamathambo kwi-HPP yosana zinokuphucuka ngokuzenzekelayo ngexesha lobuntwana. Nangona kunjalo, kubalulekile ukufuna unyango ukuthintela iingxaki ezingapheliyo (umz., ukufutshane komzimba, ukukhubazeka kwamathambo).

Iimpawu zeHPP yoBuntwana

I-HPP yobuntwana inokwahluka ukusuka kwencinci ukuya kwenzulu. Iimpawu zingabandakanya:

• Ukulahleka koxinano lweeminerali zamathambo olunxulumene nobudala kunye nokuqhekeka okuzenzekelayo (le yeyona nto iphambili kwi-HPP ethambileyo).
• Ukudibana ngokukhawuleza kwamathambo entloko (craniosynostosis) kunye nokunyuka koxinzelelo ngaphakathi kwentloko (i-intracranial hypertension).
• Ukukhubazeka kwamathambo okubonakala xa uneminyaka emi-2 ukuya kwemi-3 ubudala.
• Intlungu yamathambo namalungu.
• Ukulahlekelwa ngamazinyo aqhoboshekayo ngaphambi kwexesha. Ngokwesiqhelo amazinyo elinye okanye ngaphezulu ayawa ngaphambi kokuba afikelele kwiminyaka emi-5.
• Ubuthathaka kunye nokuhamba kade (ukungathathi inyathelo lokuqala xa sele eneenyanga ezili-18).
• Ukuhambahamba ngeenyawo.

Ngamanye amaxesha, i-HPP yobuntwana inokuphucula ngequbuliso xa umntu ekhula. Nangona kunjalo, iingxaki zinokuphinda zivele xa umntu ekhulile okanye ekhulile.

Iimpawu ze-HPP yabantu abadala

Iimpawu ze-HPP yabantu abadala nazo zahlukile kakhulu. Ziquka:

• Ukuthambisa amathambo (i-osteomalacia).
• Intlungu yamathambo.
• Ukulahlekelwa ngamazinyo asisigxina (abanye abantu abadala abane-HPP basenokuba babene-rickets besebancinci, okanye basenokuba balahlekelwe ngamazinyo abo obuntwana ngaphambi kwexesha).
• Ukuqhekeka, ingakumbi ukwaphuka koxinzelelo lwamathambo e-metatarsal okanye ii-pseudofractures (iindawo ezikhululekileyo) ze-femur.
• Intlungu engapheliyo kunye nobuthathaka obubangelwa kukwaphuka kwamathambo rhoqo.
• I-calcium ijikeleza amalungu, nto leyo ebangela ukudumba kwamalungu (i-calcific periarthritis) kunye/okanye intlungu.
• Intlungu ebuhlungu yamalungu ngequbuliso (i-chondrocalcinosis okanye i-pseudogout, ebangelwa kukufakwa kwe-calcium kwi-cartilage).

Iimpawu ze-Odontohypophosphatasia

Olu hlobo luchaphazela amazinyo akho kuphela - amathambo ethambo lakho akachaphazeleki. Uphawu oluphambili kukuba amazinyo omntwana aphuma ngaphambi kwexesha, oko kuthetha ukuba ngexesha lobuntwana okanye ebuntwaneni. Abanye abantu banokuphulukana namazinyo abo asisigxina ngequbuliso njengoko bekhula.

Yintoni ebangela i-hypophosphatesia (HPP)?

Eyona nto ibangela i-HPP ziinguqu zemfuza. Ngokukodwa, ibangelwa kukuguquka kwemfuza ye-ALPL . Ngokwesiqhelo, i-ALPL gene iyalela umzimba wethu ukuba wenze i-enzyme ebizwa ngokuba yi-Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . Le enzyme ibalulekile emathanjeni namazinyo ethu ukuze afumane iiminerali ngokufanelekileyo, oko kuthetha ukuba aqine.

Cinga ngale enzyme ye-TNSALP njengenjineli eyintloko kwifektri yokwenza amathambo. Ukuba ayisebenzi kakuhle, umgangatho weempahla (oko kukuthi, amathambo) aphuma kwifektri uya kuncipha.

Xa utshintsho kwi-ALPL gene luthintela i-enzyme ye-TNSALP ukuba iveliswe ngokufanelekileyo, ayinakukwazi ukwenza umsebenzi wayo ngokufanelekileyo.

Ukwenziwa kwamathambo abe ngamaminerali yinkqubo apho ithambo lizaliswa zizinto eziqinileyo ezifana ne-calcium phosphate. Le thambo lizaliswa ziiproteni ezifana ne-collagen kunye neeminerali ezifana ne-calcium kunye ne-phosphate.

Ezona ntlobo zinzima ze-HPP zibangelwa lutshintsho lwemfuza oluthintela ngokupheleleyo umsebenzi we-enzyme ye-TNSALP. Ezinye iinguqulelo zemfuza ezinciphisa umsebenzi we-enzyme ye-TNSALP, kodwa zingayithinteli ngokupheleleyo, zibangela iintlobo ezibuthathaka zesifo.

Ifunyanwa njani i-hypophosphatesia (HPP) njengelifa?

Iintlobo ezinzima ze-HPP, ezifana ne-HPP ezalwa ngasemva, zizuzwa njengelifa kwi-autosomal recessive pattern. Oku kuthetha ukuba bobabini abazali kufuneka badlulisele i-ALPL gene etshintshiweyo kumntwana wabo. Amaxesha amaninzi, abazali abanazo iimpawu ze-HPP kwaye abazi ukuba bathwala utshintsho lwe-gene, ngoko ke umntwana unokumangaliswa xa esi sifo siqala.

Iintlobo ezincinci ze-HPP zinokufunyanwa njengelifa kwi-autosomal recessive okanye kwi-autosomal dominant pattern. I-autosomal dominant pattern ithetha ukuba umntwana unokuba nesi sifo nokuba ngumzali omnye kuphela ozuza i-ALPL gene eguquliweyo .

Ifunyanwa njani i-hypophosphatesia (HPP)?

Oogqirha basebenzisa kakhulu iimvavanyo zomzimba, iimvavanyo zomfanekiso, kunye novavanyo lwelabhoratri ukufumanisa i-HPP. Ugqirha oqhelene nesi sifo unokusibona ngokukhawuleza. Nangona kunjalo, ugqirha ongaqhelananga ne-HPP unokuthatha ixesha ukwenza uxilongo.

Uvavanyo olunceda ekuxilongeni i-HPP zezi:

• Uvavanyo lwegazi lweAlkaline Phosphatase (ALP): I-ALP yi-enzyme enxulunyaniswa noxinano lweeminerali zamathambo. Abantu abane-HPP badla ngokuba namanqanaba aphantsi e-ALP xa bekhula. Nangona kunjalo, olu vavanyo lodwa alunakuqinisekisa esi sifo, njengoko ezinye iimeko zinokubangela amanqanaba aphantsi e-ALP.
• Uvavanyo lwegazi lwePyridoxal 5′-phosphate (PLP): I-PLP luhlobo lwevithamini B6. Abantu abane-HPP badla ngokuba namanqanaba aphezulu e-PLP.
• Ii-X-reyi: Kwiimeko ezinzima ze-HPP, ii-X-reyi zinokubonisa ukukhubazeka kwamathambo okubangelwa sisifo. Nangona kunjalo, ngenxa yokuba kukho ezinye izizathu zeengxaki zamathambo, ugqirha womntwana wakho usenokungayiqondi ngoko nangoko le HPP.
• Uvavanyo lwemfuza: Oku kunokuchonga umahluko kwi-ALPL gene ebangela i-HPP. Nangona kunjalo, olu vavanyo alufumaneki kuzo zonke iilabhoratri.

Iphathwa njani i-hypophosphatesia (HPP)?

Okwangoku akukho nyango lwe-HPP. Nangona kunjalo, i-Asfotase alfa (Strensiq®)Unyango oluphambili lwale nto lugonyo olubizwa ngokuba yi-TNSALP. Lunikwa njengenaliti engaphantsi kwesikhumba kwaye lusebenza njengonyango lokutshintsha ii-enzyme. Lungasetyenziswa kubantwana nakubantu abadala abaneempawu eziqala ebuntwaneni.

Izifundo zibonise ukuba iyeza i-Asfotase alfa linokuphucula ukuphefumla, amanqanaba e-calcium, impilo yamathambo, kunye nokuphila kubantwana abane-HPP yosana kunye nentsha.

Ezinye iindlela zonyango zigxile ekulawuleni iimpawu ezithile kunye neengxaki. Umntwana wakho unokufuna iqela leengcali ukuze zimnyange. Ezi zinokuquka:

• Iingcali zezingane
• Iingcali zamathambo
• Iingcali ze-endocrinologists zabantwana
• Iingcali zotyando lwengqondo zabantwana
• Iingcali ze-Nephrology
• Iingcali kwiithishu ezijikeleze amazinyo (iingcali kwiithishu ezijikeleze amazinyo)
• Iingcali zolawulo lweentlungu
• Iingcali zonyango lomzimba
• Iingcali zonyango emsebenzini

Eminye imizekelo yonyango oluxhasayo:

• Inkxaso yokuphefumla xa kukho ubunzima bokuphefumla.
• Unyango lwesigcina-ntloko okanye utyando lwe-craniosynostosis.
• Ukwenza utyando lwe-shunt okanye lwe-skull ukunyanga uxinzelelo oluphezulu ngaphakathi kwe-skull (uxinzelelo oluphezulu lwegazi ngaphakathi kwentloko).
• I-Vitamin B6 yokuxhuzula okubangelwa yi-HPP.
• Unyango lwamazinyo rhoqo kwasebuntwaneni ukuze kuvavanywe iingxaki zamazinyo.
• Ukunciphisa i-calcium ekutyeni, ezinye ii-diuretics, kunye neenaliti ze-calcitonin kunokubangela amanqanaba aphezulu e-calcium egazini (i-hypercalcemia).
• Amayeza angengowe-steroidal alwa nokuvuvukala (ii-NSAID) eentlungu zamathambo namalungu.
• Ukwaphuka kwamathambo kunokufuna ukugawulwa, ukugawulwa kwamathambo, okanye utyando lokulungisa amathambo aphukileyo (i-internal fixation).

Yintoni endimele ndiyilindele ukuba umntwana wam une-hypophosphatesia (HPP)?

Kubalulekile ukukhumbula oku: Akukho bantu babini abane-HPP abachaphazeleka ngendlela efanayo. Akukho mntu unokuqikelela ngqo ukuba umntwana wakho uza kukhula njani na xa ekhula. Eyona nto ingcono onokuyenza kukuba, ukuba kunokwenzeka, uthethe nogqirha ogxile ekuphandeni nasekunyangeni i-HPP. Banokukuxelela ukuba zeziphi iimpawu okanye utshintsho omele ulujonge kunye nokuba ikamva liphethe ntoni.

Ngaba i-hypophosphatesia (HPP) ingathintelwa?

Ekubeni i-HPP sisifo esibangelwa lufuzo , ayinakuthintelwa.

Ukuba ukhathazekile malunga nokudlulisela i-hypophosphatesia okanye ezinye izifo zemfuza kubantwana bakho, thetha nogqirha wakho malunga neengcebiso zemfuza .

Ndingamnyamekela njani umntwana wam one-HPP?

Ukuba umntwana wakho une-HPP, kubalulekile ukuba uzibandakanye ukuqinisekisa ukuba ufumana unyango olungcono kakhulu. Abanye oogqirha obabonayo basenokungabi nalwazi kangako ngesi sifo singaqhelekanga. Ngoko ke, ngokummela umntwana wakho, unokubanceda bafumane ubomi obusemgangathweni kangangoko.

Wena nosapho lwakho ningathanda ukuzibandakanya neqela lenkxaso. Oku kuya kuninika ithuba lokudibana nabanye abaye badlula kumava afana nawakho, nithethe, kwaye nabelane ngezimvo.

Umntwana wam ufanele aye nini kugqirha?

Ukuba umntwana wakho une-hypophosphatemia, kufuneka adibane neqela lakhe lezonyango rhoqo ukuze afumane unyango kwaye ajonge iimpawu.

Ukuqonda ukuxilongwa kwe-HPP yomntwana wakho kunokuba nzima. Kodwa khumbula, iqela lezempilo lomntwana wakho liza kumnika isicwangciso solawulo esomeleleyo nesokubeka iliso esikhethekileyo kuye. Kubalulekile ukuqinisekisa ukuba wena, umntwana wakho, kunye nosapho lwakho nifumana inkxaso abayidingayo, kwaye nihlale nigxile kwimpilo yomntwana wakho. Iqela lezempilo lomntwana wakho lilapha ukukuxhasa kuyo yonke inyathelo.

Sithini isigidimi esiza kusithatha ekhaya kweli bali?

I-Hypophosphatasia yimeko engaqhelekanga yemfuza echaphazela amandla amathambo namazinyo. Ubunzima bale meko buyahluka kumntu nomntu. Ukuxilongwa kwangoko kunye nolawulo olufanelekileyo kubalulekile.

• Ngenxa yokuba i-HPP sisifo esibangelwa lufuzo , ayinakuthintelwa.
• Iimpawu zingaqala nangaliphi na ixesha, ukususela ekuzalweni ukuya ebudaleni.
• Eyona nto ibalulekileyo kukubona isifo ngokukhawuleza uze ufumane unyango koogqirha abaziingcali.
• Unyango lwangoku (ingakumbi i-asfotase alfa) lunokulawula iimpawu kwaye luphucule umgangatho wobomi.
• Ukuba uneminye imibuzo malunga noku, ungoyiki ukuthetha nogqirha wakho. Baza kukunceda.

Khumbula, awuwedwa. Kukho izixhobo kunye namaqela enkxaso anokunceda abantu abaphila nezi meko kunye neentsapho zabo.

I- Hypophosphatasia, i-HPP, izifo zemfuza, ubuthathaka bamathambo, izifo zamazinyo, izifo zabantwana, i-alkaline phosphatase