Ngaba umntwana wakho ubonakala mfutshane kunabanye? Masifunde ngale hypochondroplasia!

Bazali, ngaba ngamanye amaxesha nivakalelwa kukuba umntwana wenu mfutshane kancinci kunabanye abantwana abaneminyaka efanayo? Okanye, ngaba nivakalelwa kukuba nokuba umntwana wenu ekhula, akade njengoko bekulindelwe? Kuqhelekile ukuziva usoyika kwaye ukhathazekile xa izinto ezinje zifika engqondweni. Namhlanje siza kuthetha ngento enokubangela le meko, kodwa engathethwa rhoqo ngayo.

Kulungile, yintoni le hypochondroplasia?

Ngamafutshane, i-hypochondroplasia yimeko echaphazela uphuhliso lwamathambo ethu, oko kukuthi, inkqubo yamathambo. Oogqirha bayibiza le meko ngokuthi yi-skeletal dysplasia . Ngokukodwa, ichaphazela into ebizwa ngokuba yi-cartilage . Khumbula, i-cartilage sisicwili esithambileyo esidibanisayo esikhusela amathambo ethu ekukhuhlaneni xa sishukuma. Njengakwiindlebe zethu neempumlo. Okwenzekayo kule meko kukuba i-cartilage emathanjeni amade eengalo nemilenze ayiguquki ibe yithambo ngokufanelekileyo. Siyibiza le nkqubo ngokuba yi-ossification . Ngoko ke, xa oku kungenzeki ngokufanelekileyo, amalungu aba mafutshane kancinci, yiyo loo nto ibizwa ngokuba yimeko ebangela 'i-short-limbed dwarfism'.

Ixhaphake kangakanani le meko?

Kunzima ukutsho ngqo ukuba bangaphi abantu abafumana i-hypochondroplasia. Nangona kunjalo, izifundo zibonisa ukuba inokwenzeka ngendlela efanayo ne -achondroplasia , eyimeko enzima kancinci. Kuqikelelwa ukuba le meko ichaphazela phakathi komntwana omnye kwi-15,000 kunye nomntwana omnye kwi-40,000 ezisandula ukuzalwa kwihlabathi liphela. Oko kuthetha ukuba ayixhaphakanga kangako, kodwa ayifumaneki.

Zithini iimpawu zoku?

Kukho iimpawu ezininzi zomzimba ezinokunceda ekuchongeni i-hypochondroplasia. Nangona kunjalo, ezi mpawu azifani kuye wonke umntu kwaye zinokuhluka kumntu nomntu. Nazi ezinye zeempawu:

• Ubude obufutshane: Mfutshane kunabanye abantwana abaneminyaka efanayo.
• Intloko enkulu: Intloko ingabonakala inkulu kancinci xa ithelekiswa nomzimba wonke.
• Iingalo nemilenze emifutshane: Iingalo ezingaphezulu, ingakumbi amathanga, zibonakala zimfutshane.
• Izandla neenyawo ezibanzi: Iintende kunye neenyawo zinokuba banzi kancinci.
• Ukungakwazi ukolula ingalo ngokupheleleyo engqinibeni: Intshukumo yengqiniba isenokunqongophala kancinci.
• Imilenze egobileyo: Imilenze isenokubonakala ngathi igobile ngaphandle emadolweni.
• Ukugoba komqolo ongezantsi (lordosis): Umqolo ongezantsi usenokuba ugobile kakhulu ngaphakathi.

Ngokwesiqhelo, oku kuncipha kobude kubonakala xa umntwana esemncinci, phakathi kweminyaka emibini ukuya kwemithathu ubudala naxa eqala isikolo. Ukuphakama okuqhelekileyo kwendoda endala ene-hypochondroplasia kumalunga ne-138 ukuya kwi-165 centimeters (54-65 intshi). Kwibhinqa, kumalunga ne-128 ukuya kwi-151 centimeters (50-59 intshi).

Intlungu emalungeni ezandla nemilenze inokwenzeka ubomi bonke, ingakumbi emva kokuzilolonga.

Nangona oku kunqabile kakhulu, ngaphantsi kwe-10% yabantu abane-hypochondroplasia banokuhlangabezana nobunzima bokufunda obuncinci kunye nemingeni yengqondo ukususela ebuntwaneni ukuya ebudaleni. Nangona kunjalo, kubalulekile ukukhumbula ukuba kwiimeko ezininzi, le meko ayichaphazeli ingqondo .

Zibonakala nini ezi mpawu?

Amaxesha amaninzi, obu bufutshane abubonakali kakuhle xa umntwana esemncinci . Budla ngokuza engqondweni xa umntwana emdala kancinci aze adlule kwimigangatho yokukhula, nto leyo ethetha ukuba akakhuli njengabanye abantwana, okanye xa engasakhuli ngokukhawuleza xa eselula.

Yintoni isizathu soku?

Eyona nto ibangela i-hypochondroplasia kukuguquka kwezakhi zofuzo . Kwiimeko ezininzi, oku kubangelwa kukutshintsha kwezakhi zofuzo ezibizwa ngokuba yi-FGFR3 gene . Le gene ye-FGFR3 inceda ekuveliseni iproteni efunekayo ekukhuleni nasekugcinweni kwamathambo ethu. Oku kubaluleke kakhulu kwinkqubo yokwakheka kwamathambo, apho i-cartilage ijika ibe yithambo. Ngoko ke, xa kukho utshintsho kule gene ye-FGFR3, loo protein iba namandla kakhulu kwaye ayinakunceda amathambo akhule kwaye akhule ngokufanelekileyo.

Le meko inokudluliselwa kwizizukulwana ngezizukulwana. Oku kubizwa ngokuba yi-autosomal dominant pattern . Ngamafutshane, ukuba omnye umzali unolu tshintsho lwezakhi zofuzo, kukho ithuba elingama-50% lokuba umntwana wakhe alufumane njengelifa. Nangona kunjalo, uninzi lwexesha, olu tshintsho kwi-FGFR3 gene lwenzeka ngokungacwangciswanga (de novo) . Oku kuthetha ukuba utshintsho lwezakhi zofuzo lunokwenzeka okokuqala, nokuba akukho mntu kusapho lwakhe okhe waba nale meko ngaphambili.

Kwiimeko ezimbalwa kakhulu, i-hypochondroplasia inokwenzeka ngaphandle kotshintsho kwi-gene ye-FGFR3. Kwezi meko, kucingelwa ukuba isenokubangelwa lutshintsho kwenye i-gene engekafunyanwa.

Ichaphazela bani le meko?

I-Hypochondroplasia yimeko enokuchaphazela nawuphi na umntwana . Njengoko bekutshiwo ngaphambili, utshintsho lwemfuza lunokufunyanwa kubazali, okanye lunokwenzeka ngokungacwangciswanga. Olu tshintsho lwemfuza alubangelwa yinto eyenziwe ngumama ngexesha lokukhulelwa. Lwenzeka ngequbuliso.

Uyibona njani le nto?

Ugqirha uxilonga i-hypochondroplasia emva kokuba umntwana ezelwe. Oku kungenxa yokuba ii-ultrasound scans ezenziwe ngexesha lokukhulelwa zinokubonisaIimpawu zale meko azisoloko zibonakala. Nangona kunjalo, ukuba umama une-hypochondroplasia kwaye uguquko lwemfuza olubangela oko luyaziwa, le meko inokuchongwa ngexesha lokukhulelwa ngovavanyo lwe-CVS (chorionic villus sampling) okanye uvavanyo lwe-amniocentesis .

Emva kokuba umntwana ezelwe, ugqirha uza kwenza uvavanyo lomzimba lomntwana. Banokwenza novavanyo lofuzo ukuze bafumane eyona jini ibangela iimpawu.

Zeziphi iimvavanyo ezenziwayo ukuqinisekisa oku?

Ugqirha angacebisa iimvavanyo ezininzi ukuqinisekisa ukuxilongwa kwe-hypochondroplasia. Ezi ziquka:

• I-X-reyi: Ukubona indlela ithambo elikhula ngayo.
• Uvavanyo lwemfuza: Ukuchonga utshintsho lwemfuza olubangela iimpawu.
• Uvavanyo lwe-MRI (magnetic resonance imaging) okanye i-CT scan (computed tomography scan): Jonga ukuba azikho na ii-spinal curves kunye ne-nerve compression.

Zithini iindlela zonyango zoku?

Unyango lwe-hypochondroplasia lujolise ekulawuleni iimpawu ezinokukhokelela kwiingxaki, ezifana nokukhula okungaqhelekanga kwamathambo. Unyango alufani kuwo wonke umntu kwaye luyahluka kumntu nomntu. Nantsi into onokuyenza njengonyango:

• Utyando lomqolo: Ngamanye amaxesha, ukuba kukho umthambo ocinezelekileyo kumqolo ongezantsi, njenge- lumbar stenosis , utyando olufana ne -laminectomy kunye ne -decompression lunokwenziwa.
• Unyango lomzimba: Ukuphucula ukuhambahamba kunye nobubanzi bokuhamba.
• Unyango lwehomoni yokukhula: Olu nyango lunokunikwa abanye abantwana ukubanceda bakhule babe bade.
• Amayeza okunyanga iintlungu zamalungu: Amayeza okunciphisa iintlungu zamalungu.

Ezinye iintsapho kunye nabantwana abane-hypochondroplasia banokukufumanisa kuluncedo kakhulu ukujoyina amaqela enkxaso . Yindlela entle yokuthetha nabanye abaye baba namava afanayo ngemeko yomntwana wabo. La maqela anokubonelela ngolwazi olubalulekileyo kunye nemfundo malunga nomsebenzi, amalungelo okukhubazeka, kunye nokuba ngumzali.

Ukuba umntwana wam une-hypochondroplasia, ndimele ndilindele ntoni?

I-Hypochondroplasia yimeko yobomi bonke engenakunyangwa ngokupheleleyo . Nangona kunjalo, ayichaphazeli ubomi bomntwana , kwaye banokuphila ubomi obuqhelekileyo.

Iimpawu zomntwana wakho zihlala zibonakala xa esemncinci (oko kuthetha ukuba akanaso eso santya sokukhula ngequbuliso). Oku kuthetha ukuba mfutshane kunabanye abaneminyaka yakhe.

Kuqhelekile ukuba neentlungu ezincinci kwiindawo ezifana namadolo, iingqiniba, kunye namaqatha emva kokuzilolonga. Kwanaxa usemdala, ukungonwabi kwamalungu kunye nentlungu zinokwenzeka ngokuhamba kwexesha.

Ugqirha womntwana wakho uza kujonga rhoqo ukukhula komntwana wakho aze acebise unyango lokulawula iimpawu xa zivela.

Ndingayinciphisa njani ingozi yomntwana wam yokuba ne-hypochondroplasia?

Ekubeni i-hypochondroplasia ibangelwa kukutshintsha kwezakhi zofuzo ngokungacwangciswanga, akukho ndlela yokuthintela le meko ngaphandle kokuba isibini sivavanywe ngendlela efana novavanyo lwezakhi zofuzo ngaphambi kokufakelwa .

Nangona kunjalo, ukuba utshaya okanye ujongene neekhemikhali ngexesha lokukhulelwa, umngcipheko wokuba nomntwana onesimo semfuza unokwanda. Le yingcamango eqhelekileyo ephosakeleyo.

Ukuba uceba ukuba nomntwana, kungcono ukuthetha nogqirha wakho malunga nomngcipheko wokuba nomntwana onesimo semfuza.

Ndifanele ndibonane nogqirha nini?

Ukuba umntwana wakho ufunyaniswe ene-hypochondroplasia, kwaye ukuba iimpawu zinzima kangangokuba umntwana akakwazi ukwenza imisebenzi yemihla ngemihla, okanye ukuba kukho intlungu enzima, ingakumbi ezingalweni nasemilenzeni, ngokuqinisekileyo kufuneka ubone ugqirha.

Kwakhona, ukuba umntwana wakho akakafunyaniswa ukuba une-hypochondroplasia, kodwa uphoswa ziimpawu zokukhula ezihambelana nobudala bakhe – umzekelo, ukungabi 'nokukhula okukhawulezayo' – yazisa ugqirha wakho.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ungabuza ugqirha imibuzo efana nale:

• Ngaba ndisemngciphekweni wokuba nomnye umntwana one-hypochondroplasia?
• Ngaba umntwana wam udinga unyango?
• Ngaba umntwana wam udinga utyando?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
• Ungacebisa iqela lenkxaso?

Yintoni umahluko phakathi kweHypochondroplasia kunye neAchondroplasia?

I-Hypochondroplasia kunye ne -achondroplasia zombini ziimeko zemfuza ezibangelwa yi -FGFR3 gene . Zombini zichaphazela ukukhula kwamathambo omntu kunye nokuphakama kwawo. Nangona kunjalo, i-hypochondroplasia luhlobo oluthambileyo lwe-achondroplasia . Oku kuthetha ukuba iimpawu azikho nzima kangako.

Abantwana abane-hypochondroplasia badla ngokungayifumani imisebenzi yemihla ngemihla yobuntwana ngenxa yemeko yabo. Uninzi lwabantwana lufutshane kunontanga yabo kwaye abanazo iimpawu ezisongela ubomi. Nangona kunjalo, xa besiya esikolweni, banokuba semngciphekweni wokuxhatshazwa ngabanye abantwana. Ke ngoko, kubalulekile ukubaxhasa kwaye, ukuba kuyimfuneko, uthethe nomcebisi wezempilo yengqondo . Kuqhelekile ukuba iintsapho ezinomntwana one-hypochondroplasia zifumane amaqela enkxaso apho zinokuqhagamshelana nabanye kwaye zifunde kumava abo.

Ukuba ukhulelwe umntwana kwaye ufuna ukuqonda umngcipheko wokuba nomntwana onesifo semfuza, bona ugqirha wakho ukuze athethe ngovavanyo lwemfuza.

Ngoko ke, zeziphi izinto ezibalulekileyo esifanele sizithathele ekhaya kweli bali?

I-Hypochondroplasia yimeko yemfuza echaphazela ubude bomntwana, kodwa ayisiyongxaki yobomi bakhe bonke. Umntwana angaphila ubomi obuqhelekileyo.

• Oku kudla ngokubangelwa lutshintsho olungalindelekanga lwemfuza, ngoko ke musa ukucinga ukuba kungenxa yento oyenzileyo njengabazali.
• Iimpawu azibalulekanga kangako, eyona nto iphambili kukufutshane komzimba. Ubulumko abusoloko buchaphazeleka.
• Iimpawu zingalawulwa ngeengcebiso zonyango ezifanelekileyo kunye nonyango ukuba kuyimfuneko.
• Kubaluleke kakhulu ukuthanda nokuxhasa umntwana wakho, kunye nokufuna inkxaso kumaqela enkxaso ukuba kuyimfuneko. Oku kuya kumnceda ukuba akhe ukuzithemba okuhle.
• Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho wosapho . Baza kukunika isikhokelo esifanelekileyo.

I- Hypochondroplasia, ubude bomntwana, ubude obufutshane, izifo zemfuza, uphuhliso lwamathambo, i-FGFR3 gene, i-cartilage