Yu bon ɛn yu tit wik? Lɛ wi lan bɔt dis sik we nɔ kin bɔku (Hypophosphatasia) .

Yu dɔn ɛva yɛri bɔt wan sik we di bon ɛn tit kin wik ɛn brok? Sɔntɛm yu dɔn si sɔmbɔdi na yu famili ɔ yu padi in pikin gɛt dis prɔblɛm. Tide wi go tɔk bɔt wan rare bɔt rili impɔtant kɔndishɔn fɔ no bɔt. Dɛn kɔl am haypofosfatasia, ɔ HPP.

Wetin na Hypophosphatasia?

Fɔ tɔk am simpul wan, haypofosfatasia (HPP) na wan sik we nɔ kin apin so ɔltɛm na di jɛnɛtiks. I kin afɛkt mɔ di we aw yu bon ɛn tit dɛn de gro. Fɔ tɔk tru, dis sik kin mek yu bon ɛn tit nɔ strɔng ɔ tik lɛk aw dɛn fɔ tik. pan mεdikal tεm, dεn nכ de mineraliz כ kalsifa fayn fayn wan. I de ɔnda di kategori fɔ mɛtabolik bon sik.

Tink bɔt am, wi bon dɛn tan lɛk kɔnkrit pila dɛn na bildin, dɛn nid fɔ strɔng. Dɛn nid di rayt minral dɛm lɛk kalsiɔm ɛn fɔsfɔr. Dis prכsεs nכ de apin fayn fayn wan na di bכdi fכ pכsin we gεt HPP. Dis kin mek di bon dɛn saf ɛn wik.

Di kayn we aw HPP kin tranga kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔm pipul dɛn kin gɛt am lɛk wae dɛn kin gɛt strɛs fraktrɔs frɔm aksidɛnt wae kin apin ɔltɛm wae dɛn dɔn ol. Bɔt sɔm tɛm dɛn de, i kin so bad dat di pikin kin day na in bɛlɛ (di pikin we dɔn day) ɔ insay sɔm dez afta dɛn bɔn am.

Wetin na di men kayn haypofosfatasia (HPP)?

Dɛn sheb HPP to sɛvin men kayn dɛn. Dɛn kin sheb dɛn tin ya akɔdin to di ej we di sik bigin ɛn aw di sik kin tranga. Lɛ wi tek wan luk pan wetin dɛn bi, frɔm di wan dɛn we rili bad to di wan dɛn we nɔ rili bad:

• Sivεr pεrinatal HPP: Dis na di kayn we we siriכs pas ɔl.
• Mild HPP we de apin bifo dεn bכn (pεrinatal): insay dis kes, dεn kin si sכm bon divεlכpmεnt.
• Infantile HPP: Na wan kayn we de apin afta dɛn bɔn am.
• Childhood HPP: Dis kin bi smɔl ɔr bad bad wan bak.
• Adult HPP: Di sayn dɛm kin apin afta pɔsin dɔn big.
• Odontohypophosphatasia: Dis kin afɛkt di tit dɛn nɔmɔ. Bebi tit dɛn kin fɔdɔm kwik kwik wan.
• Pseudohypophosphatasia: Dis nɔ kin apin so ɔltɛm. pan ɔl we di alkaline phosphatase lεvεl na di bכdi nכmal, di simptom dεm na di sem lεk di wan dεm fכ infantil HPP.

Aw kɔmɔn dis sik we dɛn kɔl HPP?

Infakt, HPP na sik we nɔ kin bɔku na di jenɛral pipul dɛn. Di siriɔs kes dɛm fɔ HPP kin afɛkt lɛk wan pan ɛvri 100,000 to wan pan ɛvri 300,000 pikin dɛm we dɛn kin bɔn ɛvri ia. Bɔt, di kayn sik wae nɔr kin pasmak, lɛk HPP wae big pipul dɛn kin gɛt, nɔr kin bɔku. Dat min se na lɛk wan pan ɛvri 6,000 to 7,000 pipul dɛn kin gɛt dis sik.

Dis sik kin bɔku pan di Menonayt kɔmyuniti na Manitoba, Kanada, usay dɛn ripɔt se lɛk wan pan ɛvri 2,500 pikin dɛn kin gɛt siriɔs HPP.

Wetin na di sayn dɛm wae de sho se yu gɛt haypofosfatasia (HPP)?

Di sayn dɛm fɔ HPP kin difrɛn bad bad wan. Di sayn dɛm kin difrɛn ivin insay di sem famili. De sayn dɛm wae yu kin gɛt kin dipen pan di kayn HPP wae yu gɛt.

Di simptom dɛm fɔ Pɛrinatal HPP

Bɔku tɛm, dɔktɔ dɛn kin si dɛn tin ya we di pikin gɛt we dɛn de du ɔltra saund skan we i gɛt bɛlɛ:

• sכt, bow, כnda divεlכp (כnda-minεral) an εn lεg dεm.
• Di chɛst rib dɛn we nɔ de divɛlɔp.
• Difɔmiti dɛn na di chɛst (flail chɛst).

Sɔm bɛlɛ kin dɔn we dɛn bɔn pikin we dɔn day. Sɔm pikin dɛn kin day insay sɔm dez afta dɛn bɔn dɛn bikɔs dɛn nɔ kin ebul fɔ blo fayn bikɔs dɛn chɛst wik.

Di simptom dɛm fɔ di perinatal benign HPP

Dɛn kin bɔn pikin dɛn we gɛt dis sik wit dɛn an ɛn fut we dɛn dɔn butu. Dɔktɔ dɛn kin si dis we dɛn de du ɔltra saund we uman gɛt bɛlɛ.

Bɔt afta dɛn bɔn pikin, dɛn bon dɛn ya we nɔ fayn, kin bɛtɛ smɔl smɔl. leta di simptom dεm kin kכmכt frכm infantil HPP to odontohypophosphatasia.

Karakta dεm fכ Infantil HPP

di simptom dεm fכ infantil HPP kin bigin fכ sho arawnd siks mכnt. Dɛn tin ya na:

• We yu de gɛt bɔku bɔku wet ɛn yu gɛt prɔblɛm dɛn we yu de gro.
• di pikin in tit kin lɔs kwik kwik wan.
• di abnכmal fכs fכ di sכkul bon dεm (craniosynostosis), we kin mek di shep fכ di ed chenj (brachycephaly).
• di prεshכn we de inkrεs insay di sכkul (intrakranial haypatεnshכn). Dis kin mek yu ed at ɛn yu yay kin bɔl (proptosis).
• Sɔft, difɔm bon dɛn we fiba rikɛt.
• di bon dεm we de na di an εn ankכl εria de wayd.
• Difɔmiti dɛm na di chɛst ɛn di rib dɛm ɛn dɛn fraktrɔs.
• I nɔ kin izi fɔ yu fɔ blo.
• Fiva we kin kam wit bon pen.
• Lak fɔ di mɔsul dɛn (hypotonia). Sɔm pipul dɛn kin kɔl dis bak "floppy infant syndrome".
• di kalsiכm lεvεl dεm we de na di bכdi de inkrεs (haypa kalsiכm). Dis kin mek yu vɔmit, kɔnstipɛshɔn, taya, ɛn nɔ kin want fɔ it.
• Na smɔl tɛm nɔmɔ, pɔsin kin gɛt sik we de mek pɔsin sik.

insay sכm kes dεm, dεn bon minralayzεshכn prכblεm dεm ya na infantil HPP kin impruv fכ insεf we dεn sכm pikin. Bɔt i impɔtant fɔ go fɛn tritmɛnt fɔ mek yu nɔ gɛt prɔblɛm dɛn we go de sote go (e.g., shɔt ayt, bon dɛn we nɔ fayn).

Di simptom dɛm fɔ di HPP we pikin kin gɛt

HPP we pikin dɛn kin gɛt kin kɔmɔt frɔm smɔl to siriɔs. Di sayn dɛm kin bi:

• di ej-aprɔpriet bon minral dεnsiti lכs εn spontan frakshכn (dis na di men fכm fכ mild HPP).
• di sכkul bon dεm fכ fכm kwik kwik wan (craniosynostosis) εn we de rizulta inkrεs prεshכn insay di sכkul (intrakranial haypatεnshכn).
• di bon difכmiti dεm we de kam fכ si arawnd di ej 2-3.
• Bon ɛn jɔyn pen.
• Di tit dɛn we de kɔmɔt na di tit we de kɔmɔt bifo tɛm. Bɔku tɛm, wan ɔ mɔ tit kin fɔdɔm bifo i ol 5 ia.
• Wik ɛn delay fɔ waka (nɔ tek di fɔs step bay 18 mɔnt).
• Waddling gait we yu de waka.

Sɔntɛnde, di HPP we pikin dɛn kin gɛt kin bɛtɛ wantɛm wantɛm we i yɔŋ. Bɔt, di prɔblɛm kin kam bak we pɔsin ol ɔ we i dɔn ol.

Di simptom dɛm fɔ Adult HPP

Di simptom dɛm fɔ big pipul dɛn HPP dɛnsɛf kin rili difrɛn. Dɛn tin ya na:

• di bon dεm we de sof (osteomalacia).
• Bɔn pen.
• Fɔ lɔs dɛn tit fɔ ɔltɛm (sɔm big pipul dɛn we gɛt HPP kin dɔn gɛt rikɛt we dɛn bin smɔl, ɔ dɛn kin lɔs dɛn pikin tit bifo tɛm).
• Frakshכn, spεshal strεs frakshכn dεm na di mεtatarsal bon dεm כ pseudofractures (lכs zon dεm) na di fכm.
• Pen we nɔ de dɔn ɛn wik we kin kam bikɔs yu bon kin brok bɔku tɛm.
• di kalsiכm de dכn rawnd di joyn dεm, we de mek di joyn inflameshn (kalsifik periarthritis) εn/כ pen.
• jכyn pen we de kam wan wan (chondrocalcinosis כ pseudogout, we kin kכz bay we di kalsiכm de dכn na di katilej).

Di simptom dɛm fɔ Odontohypophosphatasia

dis kayn de afekt yu tit nכmכ - di bon dεm na yu skel nכ de afekt. di men sayn na we di pikin in tit kin fכl bifo tεm, we min se we i bεlε כ we i smɔl. Sɔm pipul dɛn kin lɔs dɛn pɔrmɛnt tit bak we dɛn nɔ bin de ɛkspɛkt as dɛn de ol.

Wetin kin mek pɔsin gɛt haypofosfatasia (HPP)?

di men tin we de mek HPP na di jεnεtik vεryכnt dεm. spεshal wan, i de kכz fכ di mכtεshכn dεm na di ALPL jin . nכmal wan, di ALPL jin de instrכkt wi bכdi fכ mek wan εnzym we dεn kכl Tissue-Nonspecific Alkaline Phosphatase (TNSALP) . dis εnzym implεnt fכ wi bon dεm εn tit dεm fכ minralize fayn fayn wan, we min se dεn kin strכng.

Tink bɔt dis TNSALP ɛnzaym as di chif injinia na wan faktri we de mek bon. If i nɔ wok fayn, di kwaliti fɔ di guds (i.e., bon) we kɔmɔt na di faktri go go dɔŋ.

we chenj dεm na di ALPL jin de mek di TNSALP εnzym nכ de prodyuz fayn fayn wan, i nכ kin du in wok fayn fayn wan.

bon minralayzεshכn na di prכsεs we di bon matris de fulכp wit wan sכlid mεtirial lεk kalsiכm fכsfεt. dis bon matris de mek wit protin dεm lεk kolagen εn minral dεm lεk kalsiכm εn fכsfεt.

di mכst siriכs fכm dεm fכ HPP na di jεnεtik chenj dεm we de blכk di aktvכti fכ di TNSALP εnzym kכmplit wan. כda jεnεtik chenj dεm we de rεdכks di aktiviti fכ di TNSALP εnzym, bכt nכ de blכk am kכmplit wan, de mek di sik we nכ sכmtεm sכmtεm.

Aw dɛn kin gɛt haypofosfatasia (HPP) we pɔsin kin gɛt?

siriכs fכm dεm fכ HPP, lεk di pεrinatal HPP, dεn kin inhεrit insay wan כtosom rεsεsiv patεn. Dis min se di mama ɛn papa ɔl tu fɔ pas di ALPL jin we dɔn chenj to dɛn pikin. Bɔku tɛm, mama ɛn papa nɔ kin gɛt di sayn dɛm fɔ HPP ɛn dɛn nɔ kin no se dɛn kin kɛr di jin we kin chenj, so di pikin kin sɔprayz we di sik bigin.

di mild fכm dεm fכ HPP kin inhεrit insay כtosom rεsεsiv כ כtosom dכminant patεn. כtosom dכminant patεn min se pikin kin gεt di sik ivin if na wan mama εn papa nכmכ gεt di mutated ALPL jin .

Aw dɛn kin no se pɔsin gɛt haypofosfatasia (HPP)?

Dɔktɔ dɛn kin yuz mɔ fɔ chɛk yu bɔdi, tɛst fɔ tek pikchɔ, ɛn tɛst na lɛbɔtri fɔ no if yu gɛt HPP. Dɔktɔ we sabi dis sik kin no am kwik kwik wan. Bɔt dɔktɔ we nɔ rili no bɔt HPP kin tek sɔm tɛm fɔ no if i gɛt di sik.

Test dɛm wae de ɛp fɔ no HPP na:

• Alkaline Phosphatase (ALP) bכdi tεst: ALP na εnzym we de kכl di bon minral dεnsiti. Pipul dεm wae gεt HPP kin gεt lכw ALP lεvεl wit εj. Bɔt dis tɛst nɔmɔ nɔ kin ebul fɔ kɔnfɔm di sik, bikɔs ɔda tin dɛn kin mek bak di ALP lɛvɛl smɔl.
• Pyridoxal 5ʹ-phosphate (PLP) blɔd tɛst: PLP na wan kayn vaytamɛn B6. Pipul wae gɛt HPP kin gɛt ay levul fɔ PLP.
• X-ray: Insay siriɔs kes dɛm fɔ HPP, X-ray kin sho bon difɔmiti dɛm we spɛshal fɔ di sik. Bɔt bikɔs ɔda tin dɛn de we kin mek yu pikin gɛt prɔblɛm wit in bon, yu pikin in dɔktɔ nɔ go no wantɛm wantɛm se na HPP.
• jεnεtik tεst: dis kin no di vεryushכn dεm na di ALPL jin we de mek HPP. Bɔt dɛn nɔ kin du dis tɛst na ɔl di lɛbɔretri dɛn.

Aw dɛn kin trit haypofosfatasia (HPP)?

Naw, no mɛrɛsin nɔ de fɔ HPP. Bɔt, Asfotase alfa (Strensiq®) .Di men tritmɛnt fɔ dis na wan vaysin we dɛn kɔl TNSALP. Dɛn kin gi am as injɛkshɔn we de ɔnda di bɔdi ɛn i de wok lɛk ɛnzaym riplesmɛnt tɛrapi. Dɛn kin yuse am pan pikin ɛn big pipul dɛm wae gɛt sɔm kayn sik wae kin bigin wae dɛn smɔl.

Stɔdi dɔn sho se di drɔg Asfotase alfa kin mek pikin dɛn we gɛt infantil ɛn juvenile HPP brith, calcium lɛvɛl, bon wɛlbɔdi, ɛn liv fayn fayn wan.

Ɔda tritmɛnt dɛn kin pe atɛnshɔn fɔ manej sɔm patikyula simptom ɛn kɔmplikeshɔn dɛn. Yu pikin kin nid wan tim fɔ spɛshal pipul dɛn fɔ trit dɛn. Dɛn tin ya kin bi:

• Di dɔktɔ dɛn we de mɛn pikin dɛn
• Ɔtopɛdist dɛn
• Di wan dɛn we de mɛn pikin dɛn we de stɔdi bɔt ɛndokrin
• Nyurosɔjɔn dɛn we de mɛn pikin dɛn
• Di wan dɛn we de mɛn pipul dɛn we de stɔdi bɔt di bɔdi
• Periodontists (spɛshal pipul dɛn we de wok na di tisu dɛn we de rawnd di tit dɛn) .
• Spɛshal pipul dɛn we sabi aw fɔ mɛn di pen
• Di wan dɛn we de mɛn pipul dɛn we gɛt bɔdi
• Ɔkupeshɔn tɛrapist dɛn

Sɔm ɛgzampul dɛn bɔt tritmɛnt dɛn we de sɔpɔt pɔsin:

• Sכpכt fכ di rεspiretכri fכ difεlεns fכ brith.
• Ɛlmɛt tɛrapi ɔ ɔpreshɔn fɔ kraniosynostosis.
• fכ put shunt כ sכl כpεrayshכn fכ trit inkrεs prεshכn insay di sכkul (intrakranial haypatεnshכn).
• Vitamin B6 fɔ sik dɛn we HPP kin mek.
• Dɛn kin kia fɔ dɛn tit ɔltɛm frɔm we dɛn smɔl fɔ no if dɛn gɛt prɔblɛm wit dɛn tit.
• If yu nɔ gɛt kalsiɔm we yu de it, sɔm tin dɛn we de mek yu nɔ gɛt wata, ɛn di injɛkshɔn we yu de gi yu kalsitɔnin, dat kin mek yu gɛt bɔku kalsiɔm na yu blɔd (haypa kalsiɔm).
• Nɔnsterɔyd anti-inflammatory drɔgs (NSAID) fɔ bon ɛn jɔyn pen.
• Frakshכn kin nid fכ kכst, splint, כ כpεrayshכn fכ fiks di bon dεm we brok (internal fixation).

Wetin a fɔ ɛkspɛkt if mi pikin gɛt haypofosfatasia (HPP)?

I impɔtant fɔ mɛmba dis: Nɔr tu pipul dɛm wae gɛt HPP nɔr de afɛkt di sem we. Nɔbɔdi nɔ go ebul fɔ tɔk klia wan aw yu pikin go gɛt dis sik as i de gro. Di bɛst tin we yu kin du na, if i pɔsibul, tɔk to dɔktɔ we spɛshal fɔ du risach ɛn trit HPP. Dɛn kin tɛl yu us sayn ɔr chenj fɔ wach fɔ ɛn wetin go apin tumara bambay.

Yu tink se dɛn kin mek dɛn nɔ gɛt haypofosfatasia (HPP)?

Bikɔs HPP na sik we pɔsin kin gɛt frɔm in jɛnɛtiks , dɛn nɔ kin ebul fɔ avɔyd am.

If yu de wɔri bɔt fɔ pas haypofosfatasia ɔ ɔda sik dɛn we yu kin gɛt frɔm yu pikin dɛn, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks .

Aw a go kia fɔ mi pikin we gɛt HPP?

If yu pikin gɛt HPP, i impɔtant fɔ mek yu put an pan am fɔ mek shɔ se dɛn gɛt di bɛst mɛrɛsin we pɔsin kin gɛt. Sɔm pan de dɔktɔ dɛm wae yu kin si nɔr kin no bɔt dis sik wae nɔr kin bɔrku. So, if yu advatayz fɔ yu pikin, yu kin ɛp am fɔ gɛt di bɛst kwaliti layf we pɔsin kin gɛt.

Yu ɛn yu famili kin want bak fɔ tink bɔt fɔ jɔyn sɔpɔt grup. Dis go gi yu di chans fɔ mit ɔda pipul dɛn we dɔn go tru di sem kayn ɛkspiriɛns we yu gɛt, tɔk, ɛn sheb aydia.

Ustɛm mi pikin fɔ go to dɔktɔ?

If yu pikin gɛt haypofosfatasia, dɛn fɔ mit wit dɛn mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach di sik dɛn.

Fɔ ɔndastand yu pikin in HPP diagnosis kin tranga. Bɔt mɛmba se, yu pikin in wɛlbɔdi tim go gi dɛn wan strɔng manejmɛnt ɛn monitarin plan we spɛshal fɔ dɛn. I impɔtant fɔ mek shɔ se yu, yu pikin, ɛn yu famili gɛt di sɔpɔt we dɛn nid, ɛn fɔ de pe atɛnshɔn pan yu pikin in wɛlbɔdi. Yu pikin in wɛlbɔdi tim de ya fɔ sɔpɔt yu ɛvri step na di rod.

Wetin na di mɛsej we wi want fɔ tek go na os we wi want fɔ tek frɔm dis stori?

haypofosfatasia na wan jεnεtik kכndyushכn we nכ kin apin we kin afekt di trεnk fכ di bon dεm εn di tit dεm. Aw dis sik kin tranga kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Fɔ no di sik kwik kwik wan ɛn fɔ mɛn di sik fayn fayn wan na di men tin.

• Bikɔs HPP na sik we pɔsin kin gɛt frɔm in jɛnɛtiks , dɛn nɔ kin ebul fɔ avɔyd am.
• Di sayn dɛm kin bigin ɛnitɛm, frɔm we dɛn bɔn am te i big.
• Di tin we impɔtant pas ɔl na fɔ no di sik kwik kwik wan ɛn go to tritmɛnt frɔm spɛshal dɔktɔ dɛn.
• Di tritmɛnt dɛm wae de naw (especially asfotase alfa) kin kɔntrol di simptom dɛm ɛn impruv kwaliti layf.
• If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ fred fɔ tɔk to yu dɔktɔ. Dɛn go ɛp yu.

Mɛmba se nɔto yu wangren de. Risos ɛn sɔpɔt grup de wae kin ɛp pipul dɛm wae de liv wit dɛn kayn sik ya ɛn dɛn famili.

` Hypophosphatasia, HPP, jεnεtik sik dεm, bon wik, dεn sik dεm, pikin dεm sik dεm, alkaline phosphatase