Ese amagufwa n'amenyo yawe birakomeye? Reka twige kuri iyi ndwara idasanzwe (Hypophosphatesia)

Ese wigeze wumva indwara aho amagufwa n'amenyo bicika intege kandi bigacika intege? Wenda wabonye umuntu wo mu muryango wawe cyangwa umwana w'inshuti yawe afite iki kibazo. Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko y'ingenzi cyane ugomba kumenya. Yitwa hypophosphatasia, cyangwa HPP.

Hypophosphatesia ni iki?

Muri make, hypophosphatasia (HPP) ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Igira ingaruka cyane cyane ku buryo amagufwa n'amenyo yawe akura. Mu by'ukuri, iyi ndwara ituma amagufwa n'amenyo yawe adakomera cyangwa ngo abe menshi nk'uko bikwiye. Mu buvuzi, ntabwo ahindura imiyoboro y'amazi cyangwa ngo ahinduke neza. Iri mu cyiciro cy'indwara z'amagufwa ziterwa n'imikorere y'umubiri.

Tekereza nawe, amagufwa yacu ameze nk'inkingi za beto mu nyubako, agomba gukomera. Akeneye imyunyu ngugu ikwiye nka kalisiyumu na fosifore. Iyi nzira ntibaho neza mu mubiri w'umuntu urwaye HPP. Ingaruka ni uko amagufwa arushaho koroha no gucika intege.

Ubukana bwa HPP bushobora gutandukana cyane bitewe n'umuntu ku wundi. Hari abantu bashobora kugira ikibazo cyoroshye nk'ihungabana riterwa n'impanuka zikunze kugaragara mu myaka yo hagati. Ariko, hari igihe gishobora kuba gikomeye ku buryo umwana ashobora gupfira mu nda (kubyara umwana yapfuye) cyangwa mu minsi mike avutse.

Ni ubuhe bwoko bw'ingenzi bwa hypofosfatiya (HPP)?

HPP igabanyijemo ubwoko burindwi bw'ingenzi. Ubu bwoko bushyirwa mu byiciro hakurikijwe imyaka ibimenyetso bitangira n'uburemere bw'indwara. Reka turebere hamwe ibyo ari byo, kuva ku bikomeye cyane kugeza ku bito cyane:

• Indwara ikomeye yo mu gihe cyo kubyara: Iyi ni yo ndwara ikomeye cyane.
• HPP yoroheje ibaho mbere yo kuvuka (perinatal): Muri iki gihe, hari iterambere ry'amagufwa rishobora kugaragara.
• HPP y'abana: Ubwoko bugaragara nyuma yo kuvuka.
• HPP yo mu bwana: Ibi bishobora no kuba byoroheje cyangwa bikomeye.
• HPP y'umuntu mukuru: Ibimenyetso bigaragara nyuma yo gukura.
• Odontohypophosphatasia: Ibi bigira ingaruka ku menyo gusa. Amenyo y'abana agwa vuba.
• Pseudohypophosphatasia: Ibi ni gake cyane. Nubwo urugero rwa alkaline phosphatase mu maraso ari rusanzwe, ibimenyetso bisa n'iby'umwana HPP.

Iyi ndwara yitwa HPP ikunze kugaragara gute?

Mu by’ukuri, HPP ni indwara idakunze kugaragara mu baturage muri rusange. Indwara ikomeye ya HPP ifata abana bagera ku 100.000 kugeza ku 1 ku bana 300.000 bavuka buri mwaka. Ariko, ubwoko bw’indwara yoroshye, nka HPP ikuze, ntabwo ikunze kugaragara cyane. Ibyo bivuze ko abantu bagera ku 6.000 kugeza ku 7.000 bashobora kuyirwara.

Iyi ndwara ikunze kugaragara cyane mu muryango w’abamennonite bo muri Manitoba, muri Kanada, aho bivugwa ko umwana umwe mu bana 2.500 arwara indwara ya HPP ikomeye.

Ni ibihe bimenyetso bya hypofosfatiya (HPP)?

Ibimenyetso bya HPP biratandukanye cyane. Ibimenyetso bishobora gutandukana ndetse no mu muryango umwe. Ibimenyetso ubona akenshi biterwa n'ubwoko bwa HPP ufite.

Ibimenyetso bya HPP yo mu gihe cyo kubyara

Abaganga bakunze kubona ibi bintu by’uruhinja mu gihe cyo gupima umwana utwite hakoreshejwe ultrasound:

• Amaboko n'amaguru magufi, ahetamye, adakuze neza (adafite amabuye y'agaciro).
• Imbavu zo mu gituza zidakura neza.
• Ubusembwa bw'igituza (igituza cyo mu gituza).

Hari inda zishobora kurangira umwana yapfuye. Hari abana bashobora gupfa mu minsi mike nyuma yo kuvuka bazize ibibazo by'ubuhumekero biterwa no kunanirwa k'igituza.

Ibimenyetso bya HPP idakoresha imiti igabanya ubukana bw'indwara yo mu nda ibyara

Abana bafite iyi ndwara bashobora kuvukana amaboko n'amaguru binamye. Abaganga bashobora kubibona mu gihe cyo gupimwa hifashishijwe ultrasound mu gihe batwite.

Ariko, nyuma yo kuvuka, ubu busembwa bw'amagufwa bugenda burushaho kwiyongera. Ibimenyetso bya nyuma bishobora kuva kuri HPP y'uruhinja kugeza kuri odontohypophosphatasia.

Ibiranga HPP y'abana bato

Ibimenyetso bya HPP y'abana bikunze kugaragara ahagana ku mezi atandatu. Birimo:

• Ibibazo byo kwiyongera ibiro n'imikurire.
• Gutakaza amenyo y'uruhinja hakiri kare.
• Guhuza amagufwa y'agahanga ku buryo budasanzwe (craniosynostosis), bishobora gutera impinduka mu miterere y'umutwe (brachycephaly).
• Ubwiyongere bw'umuvuduko mu gahanga (umuvuduko ukabije w'amaraso mu bwonko). Ibi bishobora gutera kuribwa umutwe no kubyimba amaso (proptosis).
• Amagufwa yoroshye kandi afite ubumuga asa n'amagufwa ya rickets.
• Kwaguka kw'amagufwa mu kuboko no mu kaguru.
• Ubusembwa bw'igituza n'imbavu ndetse n'imvune zabyo.
• Kugorwa no guhumeka.
• Indwara z'umuriro zijyana no kubabara mu magufwa.
• Kutagira imitsi ihagije (hypotonia). Hari n'abantu babyita "syndrome y'abana bato".
• Ubwiyongere bwa kalisiyumu mu maraso (hypercalcemia). Ibi bishobora gutera kuruka, kuribwa mu nda, umunaniro, no kubura ubushake bwo kurya.
• Ni gake cyane, indwara zo mu mutwe zishobora kubaho.

Mu bihe bimwe na bimwe, ibibazo byo kubura igufwa mu bana bato bishobora kwiyongera mu buryo butunguranye mu gihe cy'ubwana. Ariko, ni ngombwa gushaka ubuvuzi kugira ngo hirindwe ingorane zihoraho (urugero: kuba mugufi, ubumuga bw'amagufwa).

Ibimenyetso bya HPP mu bwana

Indwara ya HPP mu bwana ishobora kuva ku yoroheje kugeza ku ikomeye. Ibimenyetso bishobora kuba birimo:

• Kugabanuka kw'ubucucike bw'imyunyu ngugu mu magufwa bitewe n'imyaka no kuvunika mu buryo butunguranye (iki ni cyo kintu cy'ingenzi cya HPP yoroheje).
• Guhuza amagufwa y'agahanga vuba (craniosynostosis) bigatuma umuvuduko w'amaraso wiyongera mu gahanga (umuvuduko ukabije w'amaraso mu mutwe).
• Ubusembwa bw'amagufwa bugaragara hagati y'imyaka 2-3.
• Kubabara amagufwa n'ingingo.
• Gutakaza amenyo asanzwe apfa. Akenshi amenyo rimwe cyangwa menshi agwa mbere y'imyaka 5.
• Intege nke no gutinda kugenda (kutatera intambwe ya mbere mu mezi 18).
• Ingendo yo kugendera mu mazi.

Hari igihe HPP yo mu bwana ishobora guhinduka mu buryo butunguranye mu gihe cy'ubukure. Ariko, ingorane zishobora kugaruka mu myaka yo hagati cyangwa iy'izabukuru.

Ibimenyetso bya HPP ku bantu bakuru

Ibimenyetso bya HPP ku bantu bakuru nabyo biratandukanye cyane. Birimo:

• Koroshya amagufwa (osteomalacia).
• Kubabara amagufwa.
• Gutakaza amenyo ahoraho (bamwe mu bantu bakuru barwaye HPP bashobora kuba bararwaye indwara ya rickets bakiri abana, cyangwa bakaba baratakaje amenyo yabo y'incuke imburagihe).
• Kuvunika, cyane cyane kuvunika kw'amagufwa ya metatarsal cyangwa uduce tw'inyuma (pseudofractures) tw'inyuma y'igufwa.
• Ububabare buhoraho n'intege nke biterwa no kuvunika amagufwa kenshi.
• Kalisiyumu irakomeza kwiyongera ku ngingo, bigatera kubyimba ingingo (calcific periarthritis) cyangwa ububabare.
• Ububabare butunguranye, bukomeye mu ngingo (chondrocalcinosis cyangwa pseudogout, buterwa n'ubwinshi bwa kalisiyumu mu gatsiri).

Ibimenyetso bya Odontohypophosphatesia

Ubu bwoko bw’amenyo bugira ingaruka gusa ku menyo yawe - amagufwa y’amagufwa yawe ntagira ingaruka. Ikimenyetso nyamukuru ni uko amenyo y’abana agwa imburagihe, bivuze ko mu gihe cy’ubuto cyangwa ubwana. Hari abantu bashobora no gutakaza amenyo yabo ahoraho mu buryo butunguranye uko bagenda bakura.

Ni iki gitera hypofosfatiziya (HPP)?

Impamvu nyamukuru ya HPP ni ubwoko butandukanye bwa gene. By'umwihariko, iterwa n'impinduka muri gene ya ALPL . Ubusanzwe, gene ya ALPL itegeka umubiri wacu gukora enzyme yitwa Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . Iyi enzyme ni ingenzi kugira ngo amagufwa n'amenyo yacu bigire ubutare neza, bivuze ko bikomera.

Tekereza kuri iyi enzyme ya TNSALP nk'umuhanga mukuru mu ruganda rukora amagufwa. Iyo idakora neza, ubwiza bw'ibicuruzwa (ni ukuvuga amagufwa) biva mu ruganda buragabanuka.

Iyo impinduka muri gene ya ALPL zibujije enzyme ya TNSALP gukorwa neza, ntishobora gukora akazi kayo neza.

Gutunganya amagufwa ni inzira ituma amagufwa yuzuramo ibintu bikomeye nka fosifate ya kalisiyumu. Iyi fosifate y'amagufwa igizwe na poroteyine nka kolajeni n'imyunyungugu nka fosifate ya kalisiyumu na fosifate.

Ubwoko bukomeye bwa HPP buterwa n'impinduka mu miterere y'uturemangingo zibangamira burundu imikorere ya enzyme ya TNSALP. Izindi mpinduka mu miterere y'uturemangingo zigabanya imikorere ya enzyme ya TNSALP, ariko ntiziyihagarike burundu, zitera ubwoko bworoheje bw'indwara.

Ni gute umuntu avukana hypophosphatesia (HPP)?

Ubwoko bukomeye bwa HPP, nka HPP yo mu gihe cyo kubyara, buvukanwa mu buryo bworoshye. Ibi bivuze ko ababyeyi bombi bagomba guha umwana wabo gene yahindutse ya ALPL. Akenshi, ababyeyi ntibagaragaza ibimenyetso bya HPP kandi ntibazi ko bafite gene zitandukanye, bityo umwana ashobora gutungurwa iyo indwara itangiye.

Ubwoko bworoheje bwa HPP bushobora kuragwa mu buryo bwa autosomal recessive cyangwa autosomal dominant pattern. Uburyo bwa autosomal dominant pattern busobanura ko umwana ashobora kurwara indwara kabone n'iyo umubyeyi umwe gusa ari we uzungura gene ya ALPL yahinduwe .

Ni gute indwara ya hypophosphatesia (HPP) ipimwa?

Abaganga bakoresha ahanini ibizamini by'umubiri, ibizamini byo gufata amashusho, n'ibizamini byo muri laboratwari kugira ngo bamenye HPP. Umuganga uzi neza iyi ndwara ashobora kuyimenya vuba. Ariko, umuganga utazi neza HPP ashobora gufata igihe kugira ngo ayimenye.

Ibizamini bifasha gusuzuma HPP ni ibi bikurikira:

• Ikizamini cy'amaraso cya Alkaline Phosphatase (ALP): ALP ni enzyme ifitanye isano n'ubucucike bw'imyunyungugu mu magufwa. Abantu barwaye HPP akenshi bagira urugero rwa ALP ruri hasi uko imyaka igenda ishira. Ariko, iki kizamini cyonyine ntigishobora kwemeza indwara, kuko izindi ndwara zishobora gutera urugero rwa ALP ruri hasi.
• Igipimo cy'amaraso cya Pyridoxal 5′-phosphate (PLP): PLP ni ubwoko bwa vitamine B6. Abantu barwaye HPP akenshi baba bafite urugero rwo hejuru rwa PLP.
• Imirasire ya X: Mu bihe bikomeye bya HPP, imirasire ya X ishobora kugaragaza ubumuga bw'amagufwa bwihariye bw'iyi ndwara. Ariko, kubera ko hari izindi mpamvu zitera ibibazo by'amagufwa, muganga w'umwana wawe ashobora kutahita amenya ko ari HPP.
• Gupima imiterere y'uturemangingo: Ibi bishobora kugaragaza itandukaniro riri muri gene ya ALPL itera HPP. Ariko, iki kizamini ntikiboneka muri laboratwari zose.

Hypophosphatesia (HPP) ivurwa ite?

Kugeza ubu nta muti uhari wa HPP. Ariko, Asfotase alfa (Strensiq®)Uburyo bw'ingenzi bwo kuvura ibi ni urukingo rwitwa TNSALP. Rutangwa nk'urushinge rwo munsi y'umubiri kandi rukora nk'ubuvuzi bwo gusimbuza enzyme. Rushobora gukoreshwa ku bana n'abantu bakuru bafite ibimenyetso bitangira mu bwana.

Ubushakashatsi bwagaragaje ko umuti wa Asfotase alfa ushobora kongera uburyo bwo guhumeka, ingano ya kalisiyumu, ubuzima bw'amagufwa, no kubaho neza mu bana bafite HPP y'impinja n'iy'abana.

Ubundi buryo bwo kuvura bwibanda ku kuvura ibimenyetso bimwe na bimwe n'ingorane. Umwana wawe ashobora gukenera itsinda ry'inzobere kugira ngo bamuvure. Muri ubwo buryo hashobora kuba harimo:

• Abaganga b'abana
• Abaganga b'amagufwa
• Abaganga b'indwara z'imitsi y'abana
• Abaganga b'imitsi bo mu bana
• Abaganga b'indwara z'imitsi
• Abaganga b'amenyo (inzobere mu gukora ingirangingo zikikije amenyo)
• Inzobere mu kuvura ububabare
• Abavuzi b'umubiri
• Abavuzi b'inzobere mu by'ubuvuzi bw'akazi

Ingero zimwe na zimwe z'ubuvuzi bufasha:

• Inkunga yo guhumeka ku bibazo byo guhumeka.
• Ubuvuzi cyangwa kubagwa kw'ingofero ku ndwara ya craniosynostosis.
• Gushyira shunt cyangwa kubagwa igihanga kugira ngo bivure umuvuduko wiyongereye mu gihanga (umuvuduko ukabije w'amaraso mu bwonko).
• Vitamine B6 yo gufatwa yatewe na HPP.
• Kwita ku menyo buri gihe kuva bakiri bato kugira ngo bapime ibibazo by'amenyo.
• Kugabanya kalisiyumu mu mirire, imiti imwe n'imwe igabanya ubushyuhe, no guterwa inshinge za kalisiyumu mu mubiri bishobora gutera urugero rwinshi rwa kalisiyumu mu maraso (hypercalcemia).
• Imiti igabanya ububabare bw'amagufwa n'ingingo (NSAIDs) idakoresha steroidal.
• Kuvunika bishobora gusaba ko amagufwa yavunitse ashyirwa mu mwanya wayo, gusigwa imitsi, cyangwa kubagwa kugira ngo amagufwa yavunitse akosorwe (gusigwa imbere mu mubiri).

Ni iki nakwitega mu gihe umwana wanjye afite hypophosphatesia (HPP)?

Ni ngombwa kwibuka ibi: Nta bantu babiri bafite HPP bagerwaho n'ingaruka zimwe. Nta muntu ushobora guhanura neza uko umwana wawe azakura. Ikintu cyiza wakora ni ukuganira na muganga w'inzobere mu gukora ubushakashatsi no kuvura HPP. Bashobora kukubwira ibimenyetso cyangwa impinduka ugomba kwitondera n'icyo ejo hazaza hazaba hameze.

Ese hypophosphatesia (HPP) ishobora kwirindwa?

Kubera ko HPP ari indwara iterwa n'uturemangingo , ntabwo ishobora kwirindwa.

Niba ufite impungenge zo kwanduza abana bawe indwara ya hypophosphatesia cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo, ganira na muganga wawe ku birebana n'ubujyanama ku ngirabuzimafatizo .

Ni gute nakwita ku mwana wanjye ufite HPP?

Niba umwana wawe afite uburwayi bwa HPP, ni ngombwa ko ubyitabira kugira ngo amenye neza ko abona ubuvuzi bwiza bushoboka. Bamwe mu baganga ubona bashobora kuba badafite ubumenyi buhagije kuri iyi ndwara idasanzwe. Rero, mu kunganira umwana wawe, ushobora kumufasha kugira ubuzima bwiza bushoboka.

Wowe n'umuryango wawe mushobora kandi gutekereza kwinjira mu itsinda ry'abaterankunga. Ibi bizaguha amahirwe yo guhura n'abandi bahuye n'ibintu bisa n'ibyawe, muganire kandi musangire ibitekerezo.

Ni ryari umwana wanjye agomba kujya kwa muganga?

Niba umwana wawe afite ikibazo cyo kubura amaraso, agomba guhura n'ikipe ye y'abaganga buri gihe kugira ngo avurwe kandi akurikirane ibimenyetso.

Gusobanukirwa indwara ya HPP y'umwana wawe bishobora kugutera ubwoba. Ariko wibuke ko itsinda ry'ubuvuzi ry'umwana wawe rizamuha gahunda ikomeye yo kumucunga no kumukurikirana. Ni ngombwa kumenya neza ko wowe, umwana wawe, n'umuryango wawe mubona ubufasha bakeneye, no gukomeza kwibanda ku buzima bw'umwana wawe. Itsinda ry'ubuvuzi ry'umwana wawe riri hano kugira ngo rigufashe muri buri ntambwe.

Ni ubuhe butumwa twifuza gukura muri iyi nkuru?

Hypophosphatasia ni indwara idakunze kugaragara mu buryo bw’uturemangingo igira ingaruka ku gukomera kw'amagufwa n'amenyo. Ubukana bw'iyi ndwara buratandukanye bitewe n'umuntu ku giti cye. Gusuzuma hakiri kare no kuyifata neza ni ingenzi.

• Kubera ko HPP ari indwara iterwa n'uturemangingo , ntabwo ishobora kwirindwa.
• Ibimenyetso bishobora gutangira igihe icyo ari cyo cyose, kuva umuntu akivuka kugeza akuze.
• Igikuru ni ukumenya indwara vuba no gushaka abaganga b'inzobere.
• Uburyo bwo kuvura ubu (cyane cyane asfotase alfa) bushobora kugenzura ibimenyetso no kunoza ubuzima.
• Niba ufite ikindi kibazo kuri ibi, ntutinye kuvugana na muganga wawe. Bazagufasha.

Wibuke ko utari wenyine. Hari amikoro n'amatsinda y'ubufasha ashobora gufasha abantu babana n'ibi bibazo n'imiryango yabo.

Hypophosphatesia , HPP, indwara za genetiki, intege nke z'amagufwa, indwara z'amenyo, indwara z'abana, alkaline fosfatise