Ingabe amathambo namazinyo akho abuthakathaka? Ake sifunde ngalesi simo esingavamile (i-Hypophosphatesia)

Wake wezwa ngesifo lapho amathambo namazinyo eba buthakathaka futhi ephuka? Mhlawumbe uke wabona othile emndenini wakho noma ingane yomngane wakho enale nkinga. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele sazi ngaso. Sibizwa ngokuthi i-hypophosphatasia, noma i-HPP.

Kuyini i-Hypophosphatesia?

Kalula nje, i-hypophosphatasia (HPP) iyisimo esingavamile sofuzo. Sithinta kakhulu indlela amathambo namazinyo akho akhula ngayo. Ukuze kube sobala, lesi sifo sibangela ukuthi amathambo namazinyo akho angabi namandla noma aqine njengoba kufanele abe njalo. Ngokwezokwelapha, awabi namaminerali noma angabi nama-calculator ngendlela efanele. Siwela ngaphansi kwesigaba sesifo samathambo esithinta umzimba.

Cabanga ngakho, amathambo ethu afana nezinsika zekhonkrithi esakhiweni, kudingeka aqine. Adinga inani elifanele lamaminerali njenge-calcium ne-phosphorus. Le nqubo ayenzeki kahle emzimbeni womuntu one-HPP. Ngenxa yalokho, amathambo aba buthakathaka futhi athambe.

Ubunzima be-HPP bungahluka kakhulu kumuntu nomuntu. Abanye abantu bangase babe nakho okuncane njengokuphuka kokucindezeleka okuvela ezingozini ezivamile eminyakeni ephakathi. Kodwa-ke, kwezinye izimo, kungaba nzima kangangokuthi umntwana angashona esibelethweni (ukuzalwa kwengane ifile) noma zingakapheli izinsuku ezimbalwa ezelwe.

Yiziphi izinhlobo eziyinhloko ze-hypophosphatesia (HPP)?

I-HPP ihlukaniswe ngezinhlobo eziyisikhombisa eziyinhloko. Lezi zihlukaniswa ngokweminyaka lapho izimpawu ziqala khona kanye nobunzima besifo. Ake sibheke ukuthi ziyini, kusukela kwezinzima kakhulu kuya kwezinganzima kakhulu:

• I-HPP enzima kakhulu yokubeletha: Lolu uhlobo olubi kakhulu.
• I-HPP encane eyenzeka ngaphambi kokuzalwa (ngokubeletha): Kulesi simo, kungase kubonakale ukukhula kwamathambo.
• I-HPP yezinsana: Uhlobo oluvela ngemva kokuzalwa.
• I-HPP Yobuntwana: Lokhu kungaba mnene noma kube nzima.
• I-HPP Yabantu Abadala: Izimpawu zivela ngemva kokuba umuntu ekhulile.
• I-Odontohypophosphatasia: Lokhu kuthinta amazinyo kuphela. Amazinyo ezingane aphuma ngokushesha.
• I-Pseudohypophosphatasia: Lokhu akuvamile kakhulu. Nakuba izinga le-alkaline phosphatase egazini livamile, izimpawu zifana neze-HPP yosana.

Sivame kangakanani lesi sifo esibizwa ngokuthi i-HPP?

Eqinisweni, i-HPP iyisifo esingavamile kakhulu kubantu abaningi. Amacala amakhulu e-HPP athinta cishe ingane eyodwa kweziyi-100,000 kuya kweyodwa kweziyi-300,000 ezizalwa minyaka yonke. Kodwa-ke, izinhlobo ezincane zalesi simo, njenge-HPP yabantu abadala, azivamile kakhulu. Lokho kusho ukuthi cishe umuntu oyedwa kwabayi-6,000 kuya kwabayi-7,000 angathinteka.

Lesi sifo sivame kakhulu emphakathini wamaMennonite eManitoba, eCanada, lapho kubikwa khona ukuthi cishe ingane eyodwa kwezingu-2,500 iba ne-HPP enzima.

Ziyini izimpawu ze-hypophosphatasia (HPP)?

Izimpawu ze-HPP ziyahlukahluka kakhulu. Izimpawu zingahluka ngisho nangaphakathi komndeni ofanayo. Izimpawu ozizwayo ngokuvamile zincike ohlotsheni lwe-HPP onayo.

Izimpawu ze-HPP ye-Perinatal

Odokotela bavame ukubona lezi zici zengane ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa:

• Izingalo nemilenze emifushane, egobile, engakhuli kahle (engenamaminerali amaningi).
• Izimbambo zesifuba ezingakakhuli kahle.
• Ukukhubazeka kwesifuba (isifuba esigoqekile).

Okunye ukukhulelwa kungagcina ngokuzalwa kwengane isishonile. Ezinye izingane zingase zife zingakapheli izinsuku ezimbalwa zizelwe ngenxa yokucindezeleka kokuphefumula okubangelwa ubuthakathaka besifuba.

Izimpawu ze-HPP engenabungozi ngaphambi kokuzalwa

Izingane ezinalesi simo zingase zizalwe zinezingalo nemilenze egobile. Odokotela bangakubona lokhu ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa.

Kodwa-ke, ngemva kokuzalwa, lokhu kukhubazeka kwamathambo kuyathuthuka kancane kancane. Izimpawu zakamuva zingasukela ku-HPP yobuntwana kuya ku-odontohypophosphatasia.

Izici ze-HPP Yezingane Ezincane

Izimpawu ze-HPP yosana zivame ukuqala ukuvela cishe ezinyangeni eziyisithupha ubudala. Zihlanganisa:

• Izinkinga zokukhula kanye nokwanda kwesisindo.
• Ukulahlekelwa amazinyo omntwana kusenesikhathi.
• Ukuhlangana okungavamile kwamathambo ekhanda (craniosynostosis), okungabangela ushintsho esimweni sekhanda (brachycephaly).
• Ukwanda kwengcindezi ngaphakathi kogebhezi (umfutho wegazi ophezulu wangaphakathi kobuchopho). Lokhu kungabangela ikhanda elibuhlungu kanye nokuvuvuka kwamehlo (i-proptosis).
• Amathambo athambile, akhubazekile afana nama-rickets.
• Ukwanda kwamathambo esihlakaleni nasemaqakaleni.
• Ukukhubazeka kwesifuba nezimbambo kanye nokuqhekeka kwazo.
• Ubunzima bokuphefumula.
• Amacala omkhuhlane ahambisana nobuhlungu emathanjeni.
• Ukuntuleka kwemisipha (hypotonia). Abanye abantu babiza lokhu ngokuthi "i-floppy infant syndrome".
• Amazinga e-calcium akhuphukile egazini (i-hypercalcemia). Lokhu kungabangela ukuhlanza, ukuqunjelwa, ukukhathala, kanye nokulahlekelwa yisifiso sokudla.
• Akuvamile ukuthi kube nokuquleka.

Kwezinye izimo, lezi zinkinga zokwakheka kwamaminerali emathanjeni ku-HPP yosana zingathuthuka ngokuzenzekelayo ngesikhathi sobuntwana. Kodwa-ke, kubalulekile ukufuna ukwelashwa ukuze kuvinjelwe izinkinga ezihlala njalo (isib., ukuqina okufushane, ukukhubazeka kwamathambo).

Izimpawu ze-HPP yobuntwana

I-HPP yobuntwana ingahluka kusukela kwencane kuya kwembi kakhulu. Izimpawu zingafaka:

• Ukulahlekelwa ubuningi bamaminerali emathanjeni okuhlobene nokuguga kanye nokuqhekeka okuzenzakalelayo (lesi yisici esiyinhloko se-HPP emnene).
• Ukuhlangana okusheshayo kwamathambo ekhanda (craniosynostosis) kanye nokwanda kwengcindezi ngaphakathi kwekhanda (umfutho wegazi ophakeme ngaphakathi kwekhanda).
• Ukukhubazeka kwamathambo okubonakala cishe eminyakeni engu-2-3.
• Ubuhlungu bamathambo namalunga.
• Ukulahlekelwa amazinyo aqothulayo ngaphambi kwesikhathi. Ngokuvamile amazinyo elilodwa noma ngaphezulu ayawa ngaphambi kweminyaka emi-5.
• Ubuthakathaka kanye nokuhamba kancane (ukungathathi isinyathelo sokuqala ngaphambi kwezinyanga ezingu-18).
• Ukuhamba ngezinyawo.

Ngezinye izikhathi, i-HPP yobuntwana ingathuthuka ngokuzumayo ebudaleni. Kodwa-ke, izinkinga zingaphinde zivele ebudaleni obuphakathi noma ebudaleni.

Izimpawu ze-HPP Yabantu Abadala

Izimpawu ze-HPP yabantu abadala nazo ziyahlukahluka kakhulu. Zihlanganisa:

• Ukuthamba kwamathambo (i-osteomalacia).
• Ubuhlungu bethambo.
• Ukulahlekelwa amazinyo ahlala njalo (abanye abantu abadala abane-HPP kungenzeka ukuthi babene-rickets besebancane, noma kungenzeka ukuthi balahlekelwa amazinyo abo amancane ngaphambi kwesikhathi).
• Ukuphuka, ikakhulukazi ukuphuka kokucindezeleka kwamathambo e-metatarsal noma ama-pseudofractures (izindawo ezikhululekile) ze-femur.
• Ubuhlungu obungapheli kanye nobuthakathaka obubangelwa ukuphuka kwamathambo njalo.
• I-calcium inqwabelana emalungeni, okubangela ukuvuvukala kwamalunga (i-calcific periarthritis) kanye/noma ubuhlungu.
• Ubuhlungu obukhulu obungazelelwe bamalunga (i-chondrocalcinosis noma i-pseudogout, ebangelwa ukufakwa kwe-calcium ku-cartilage).

Izimpawu ze-Odontohypophosphatesia

Lolu hlobo luthinta amazinyo akho kuphela - amathambo ohlaka lwakho awathinteki. Uphawu oluyinhloko ukuthi amazinyo ezingane aphuma ngaphambi kwesikhathi, okusho ukuthi ngesikhathi sobuntwana noma ebuntwaneni. Abanye abantu bangase balahlekelwe amazinyo abo ahlala njalo ngokungazelelwe njengoba bekhula.

Yini ebangela i-hypophosphatesia (HPP)?

Imbangela eyinhloko ye-HPP ukuhlukahluka kwezakhi zofuzo. Ngokukhethekile, kubangelwa izinguquko ku-ALPL gene . Ngokuvamile, i-ALPL gene iyala umzimba wethu ukuthi wenze i-enzyme ebizwa ngokuthi i-Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . Le enzyme ibalulekile emathanjeni namazinyo ethu ukuze acwebe kahle, okusho ukuthi aqine.

Cabanga ngale enzyme ye-TNSALP njengonjiniyela oyinhloko efektri yokwenza amathambo. Uma ingasebenzi kahle, ikhwalithi yezimpahla (okungukuthi, amathambo) eziphuma efektri izokwehla.

Uma izinguquko ku-ALPL gene zivimbela i-enzyme ye-TNSALP ukuthi ikhiqizwe kahle, ayikwazi ukwenza umsebenzi wayo kahle.

Ukwenziwa kwamaminerali emathanjeni inqubo lapho i-bone matrix igcwaliswa khona ngezinto eziqinile njenge-calcium phosphate. Le matrix yamathambo yakhiwe ngamaprotheni afana ne-collagen namaminerali afana ne-calcium ne-phosphate.

Izinhlobo ezimbi kakhulu ze-HPP zibangelwa izinguquko zofuzo ezivimba ngokuphelele umsebenzi we-enzyme ye-TNSALP. Ezinye izinguquko zofuzo ezinciphisa umsebenzi we-enzyme ye-TNSALP, kodwa ezingawuvimbeli ngokuphelele, zibangela izinhlobo ezithambile zesifo.

I-hypophosphatesia (HPP) izuzwa kanjani njengefa?

Izinhlobo ezinzima ze-HPP, njenge-HPP yangaphambi kokuzalwa, zizuzwa njengefa ngendlela yokubuyisa i-autosomal. Lokhu kusho ukuthi bobabili abazali kumele badlulisele i-ALPL gene eshintshiwe enganeni yabo. Ngokuvamile, abazali abanazo izimpawu ze-HPP futhi abazi ukuthi bathwala ukuhlukahluka kwezakhi zofuzo, ngakho-ke ingane ingamangala lapho lesi sifo siqala.

Izinhlobo ezincane ze-HPP zingazuzwa njengefa ku-autosomal recessive noma ku-autosomal dominant pattern. I-autosomal dominant pattern isho ukuthi ingane ingaba nalesi sifo ngisho noma umzali oyedwa kuphela ozuza ifa le-ALPL gene eliguquliwe .

Itholakala kanjani i-hypophosphatesia (HPP)?

Odokotela basebenzisa kakhulu izivivinyo zomzimba, izivivinyo zezithombe, kanye nezivivinyo zelebhu ukuthola i-HPP. Udokotela ojwayelene nalesi sifo angasibona ngokushesha. Kodwa-ke, udokotela ongajwayelene ne-HPP angathatha isikhathi ukuthola lesi sifo.

Ukuhlolwa okusiza ekuxilongeni i-HPP yile:

• Ukuhlolwa kwegazi kwe-Alkaline Phosphatase (ALP): I-ALP iyi-enzyme ehlotshaniswa nobuningi bamaminerali emathanjeni. Abantu abane-HPP bavame ukuba namazinga aphansi e-ALP uma bekhula. Kodwa-ke, lokhu kuhlolwa kukodwa akukwazi ukuqinisekisa lesi sifo, njengoba ezinye izimo zingadala namazinga aphansi e-ALP.
• Ukuhlolwa kwegazi kwe-Pyridoxal 5′-phosphate (PLP): I-PLP uhlobo lwe-vitamin B6. Abantu abane-HPP bavame ukuba namazinga aphezulu e-PLP.
• Ama-X-ray: Ezimweni ezimbi kakhulu ze-HPP, ama-X-ray angabonisa ukukhubazeka kwamathambo okuqondene nalesi sifo. Kodwa-ke, ngenxa yokuthi kunezinye izimbangela zezinkinga zamathambo, udokotela wengane yakho angase angakuboni ngokushesha njenge-HPP.
• Ukuhlolwa kofuzo: Lokhu kungakhomba ukwehluka kofuzo lwe-ALPL okubangela i-HPP. Kodwa-ke, lokhu kuhlolwa akutholakali kuzo zonke izindawo zokucwaninga.

Iphathwa kanjani i-hypophosphatesia (HPP)?

Okwamanje akukho ukwelashwa kwe-HPP. Kodwa-ke, i-Asfotase alfa (Strensiq®)Ukwelashwa okuyinhloko kwalokhu umuthi wokugomela obizwa ngokuthi i-TNSALP. Unikezwa njengomjovo ongaphansi kwesikhumba futhi usebenza njengokwelashwa kokufaka esikhundleni sama-enzyme. Ungasetshenziswa ezinganeni nakubantu abadala abanezimpawu eziqala ebuntwaneni.

Ucwaningo lubonise ukuthi umuthi i-Asfotase alfa ungathuthukisa ukuphefumula, amazinga e-calcium, impilo yamathambo, kanye nokusinda ezinganeni ezine-HPP ezisacathula kanye nezisencane.

Ezinye izindlela zokwelapha zigxile ekuphatheni izimpawu ezithile kanye nezinkinga. Ingane yakho ingadinga ithimba lochwepheshe ukuze liyiphathe. Lokhu kungafaka:

• Odokotela bezingane
• Odokotela bamathambo
• Odokotela be-endocrinologists bezingane
• Odokotela bezifo zengqondo bezingane
• Odokotela bezifo ze-Nephrologists
• Odokotela bamazinyo (ochwepheshe bezicubu ezizungeze amazinyo)
• Ochwepheshe bokuphatha ubuhlungu
• Abelaphi bomzimba
• Abelaphi bomsebenzi

Ezinye izibonelo zokwelapha okusekelayo:

• Ukusekelwa kokuphefumula kobunzima bokuphefumula.
• Ukwelashwa ngesigqoko noma ukuhlinzwa kwe-craniosynostosis.
• Ukwenza ukuhlinzwa kwe-shunt noma kwe-craneal ukuze kwelashwe ingcindezi ephezulu ngaphakathi kwekhanda (umfutho wegazi ophezulu wangaphakathi kwekhanda).
• I-Vitamin B6 yokuquleka okubangelwa i-HPP.
• Ukunakekelwa kwamazinyo njalo kusukela ebuntwaneni ukuze kuhlolwe izinkinga zamazinyo.
• Ukunciphisa i-calcium ekudleni, ezinye izidakamizwa zokukhipha isisu, kanye nemijovo ye-calcitonin kungabangela amazinga aphezulu e-calcium egazini (i-hypercalcemia).
• Imithi engeyona eye-steroidal yokulwa nokuvuvukala (ama-NSAID) yobuhlungu bamathambo namalunga.
• Ukuphuka kwamathambo kungadinga ukufakwa kwe-cast, i-splint, noma ukuhlinzwa ukuze kulungiswe amathambo aphukile (i-internal fixation).

Yini okufanele ngiyilindele uma ingane yami ine-hypophosphatesia (HPP)?

Kubalulekile ukukhumbula lokhu: Abekho abantu ababili abane-HPP abathinteka ngendlela efanayo. Akekho ongabikezela ngqo ukuthi ingane yakho izokhula kanjani lesi simo njengoba ikhula. Into engcono kakhulu ongayenza ukuthi, uma kungenzeka, ukhulume nodokotela ochwepheshe ekucwaningeni nasekwelapheni i-HPP. Bangakutshela ukuthi yiziphi izimpawu noma izinguquko okufanele uziqaphele nokuthi ikusasa liphetheni.

Ingabe i-hypophosphatesia (HPP) ingavinjelwa?

Njengoba i-HPP iyisifo esibangelwa izakhi zofuzo , ayinakuvinjelwa.

Uma ukhathazekile ngokudlulisela i-hypophosphatesia noma ezinye izifo zofuzo ezinganeni zakho, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Ngingayinakekela kanjani ingane yami ene-HPP?

Uma ingane yakho ine-HPP, kubalulekile ukuthi uhlanganyele ukuze uqiniseke ukuthi ithola ukunakekelwa kwezokwelapha okungcono kakhulu. Abanye odokotela obabonayo bangase bangabi nolwazi oluningi ngalesi simo esingavamile. Ngakho-ke, ngokumelela ingane yakho, ungabasiza ukuthi bathole impilo engcono kakhulu ngangokunokwenzeka.

Wena nomndeni wakho ningase nifune ukucabangela ukujoyina iqembu lokusekelana. Lokhu kuzoninika ithuba lokuhlangana nabanye abake badlula kokuhlangenwe nakho okufana nokwakho, nixoxe futhi nabelane ngemibono.

Ingane yami kufanele ibone nini udokotela?

Uma ingane yakho ine-hypophosphatemia, kufanele ihlangane nethimba layo lezokwelapha njalo ukuze ithole ukwelashwa futhi iqaphe izimpawu.

Ukuqonda ukuxilongwa kwe-HPP yengane yakho kungaba nzima kakhulu. Kodwa khumbula, ithimba lezempilo lengane yakho lizoyinikeza uhlelo oluqinile lokuphatha nokuqapha oluqondene nayo. Kubalulekile ukuqinisekisa ukuthi wena, ingane yakho, nomndeni wakho nithola ukwesekwa abakudingayo, futhi nihlale nigxile empilweni yengane yakho. Ithimba lezempilo lengane yakho lilapha ukuzokusekela kuzo zonke izinyathelo zendlela.

Yimuphi umyalezo esifuna ukuwuthatha kule ndaba?

I-Hypophosphatasia yisimo esingavamile sofuzo esithinta amandla amathambo namazinyo. Ubunzima balesi simo buyahlukahluka kumuntu nomuntu. Ukuxilongwa kusenesikhathi kanye nokuphathwa okufanele kubalulekile.

• Ngenxa yokuthi i-HPP iyisifo esibangelwa izakhi zofuzo , ayinakuvinjelwa.
• Izimpawu zingaqala noma nini, kusukela ekuzalweni kuya ebudaleni.
• Into ebaluleke kakhulu ukuqaphela lesi sifo ngokushesha bese ucela ukwelashwa kodokotela abangochwepheshe.
• Ukwelashwa kwamanje (ikakhulukazi i-asfotase alfa) kungalawula izimpawu futhi kuthuthukise ikhwalithi yokuphila.
• Uma uneminye imibuzo mayelana nalokhu, ungesabi ukukhuluma nodokotela wakho. Bazokusiza.

Khumbula, awuwedwa. Kunezinsizakusebenza namaqembu okusekela angasiza abantu abaphila nalezi zimo kanye nemindeni yabo.

I- Hypophosphatasia, i-HPP, izifo zofuzo, ubuthakathaka bamathambo, izifo zamazinyo, izifo zezingane, i-alkaline phosphatase