Ingaba umntwana wakho unengxaki yokukhula kwamathambo? Masifunde ngeDiastrophic Dysplasia

Ngaba wakha weva ngamagama athi Diastrophic Dysplasia''? Oku kusenokuba yinto entsha kuwe. Kodwa le yimeko yempilo engaqhelekanga nethile esifanele siyiqaphele. Cinga ngayo, ngamanye amaxesha xa sibona izinto ezifana nemilenze yabantwana bethu emifutshane kancinci, kwaye amalungu angakwazi ukwandiswa ngokufanelekileyo, siziva soyika kakhulu, akunjalo? Le yimeko enokubangela iimpawu ezinjalo. Ngoko ke, masithethe ngale nto namhlanje, ngendlela onokuyiqonda kakuhle.

Yintoni kanye kanye le dysplasia ye-diastrophic?

Ngamafutshane, i-dystrophic dysplasia yimeko engaqhelekanga echaphazela uphuhliso olufanelekileyo lwe-cartilage kunye namathambo . Yinto yokuzalwa , oko kuthetha ukuba umntwana uzalwa enale meko. Ingadluliselwa kwizizukulwana ngezizukulwana.

Le meko ingakhokelela kwezi zinto zilandelayo:

• I-Joint dysplasia : Oku kuthetha ukuba amalungu emzimbeni wethu awakhuli kakuhle.
• Ukufinyela kweengalo nemilenze.
• Ubude obufutshane .
• Uphuhliso olungaqhelekanga lwenkqubo yamathambo (i-skeletal dysplasia).

Le meko inokuchaphazela amalungu ahlukeneyo omzimba. Umzekelo:

• Iindlebe
• Ubuso
• Iinyawo
• Izandla
• Indawo yesinqe
• Imilenze
• Umqolo

Ngamanye amaxesha ibizwa ngokuba yi-'DD okanye 'DTD, 'Diastrophic dwarfism', okanye 'Diastrophic nanism syndrome'. Nokuba yeyiphi na indlela, ithetha imeko efanayo.

Ingaba le meko inqabile kangakanani?

Esi sisifo esingaqhelekanga ngokwenene. Kuqikelelwa ukuba ngumntwana omnye kuphela kwi-500,000 osandula ukuzalwa ochaphazeleka sesi sifo. Nangona kunjalo, kwamanye amazwe, afana neFinland, esi sifo sibonakala rhoqo. Isizathu sale nto kuthiwa kukudibana kwabo nelifa. Kwelo lizwe, esi sifo sichaphazela umntwana omnye kuphela kwi-30,000.

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Kutheni oku kusenzeka? Yintoni isizathu sale nto?

Eyona nto ibangela i-dystrophic dysplasia kukuguquka kwezakhi zofuzo . Oku kubangelwa lufuzo. Oku kuthetha ukuba ukuba kukho umntu kusapho onalo, kukho ithuba lokuba nabantwana bakhe nabo babe nalo.

Olu tshintsho lwemfuza luchaphazela i-gene ebaluleke kakhulu ekuphuhlisweni kwe-cartilage emzimbeni wethu. Uyazi, i-cartilage sisicwili esomeleleyo nesiguquguqukayo esisetyenziselwa ukwakha amathambo omntwana ngexesha lesigaba somntwana osandul’ ukuzalwa, oko kukuthi, xa esesibelekweni sikanina.

Uninzi lwe-cartilage luba yithambo njengoko umntwana ekhula. Kodwa i-cartilage ihlala kwiindawo ezifana neziphelo zamathambo, impumlo, kunye neendlebe. Ngoko ke, xa olo tshintsho lwe-gene lusenzeka, loo gene ayinakufaka isandla ngokufanelekileyo ekwakhiweni kwe-cartilage kunye nethambo.

Yintoni echaphazela oku xa kuguqulwa kwezakhi zofuzo?

Utshintsho oluthile lwemfuza olubangela le meko, DTD,'' luvela kwi-SLC26A2'' gene . Ikwabizwa ngokuba yi-DTDST'' (i-dystrophic dysplasia sulfate transporter). Le gene ivelisa iproteni enceda ekwakheni i-cartilage kwaye iguqule i-cartilage ibe yithambo.

Into ebalulekileyo kukuba umntu angaba ngumthwali wale nguqu yezakhi zofuzo, kodwa angabi naso esi sifo. Nangona kunjalo, ukuba bobabini abazali bangabathwali, kukho amathuba angama-25% okuba umntwana wabo abe nesi sifo.

Ziziphi iimpawu ezinokubonakala kule meko?

Iimpawu ze-diastrophic dwarfism zinokwahluka kakhulu kumntu nomntu. Nangona uninzi lwabantu luba nomzimba omfutshane nokukhula okukhawulezileyo, ezinye iimpawu zinokuvela nakwiindawo ezahlukeneyo zomzimba. Makhe sijonge ukuba ziyintoni na.

Iimpawu ezinokubonakala zijikeleze intloko nomlomo:

• Ibunzi elibanzi kunye neenwele ezinde.
• Ukutyeba kweendlebe, ukudumba, okanye ukutshintsha kwesimo .
• Indawo yomhlathi encinci ngokungaqhelekanga (i-micrognathia).
• Ukungasebenzi kakuhle kwamazinyo, umzekelo, amazinyo amancinci okanye axineneyo.
• I-cleft palate yimbobo engaqhelekanga eluphahleni lomlomo.
• Ubunzima bokuphefumla .

Iimpawu zamalungu omzimba:

• Iminwe emifutshane ngokungaqhelekanga (i-brachydactyly).
• "Izithupha zomntu ohamba ngeenyawo" – oko kuthetha ukuba izithupha zijikelwe ngaphandle.
• Unyawo olunye okanye zombini zijikelwe ngaphakathi (unyawo olugobileyo). Oku kukwabizwa ngokuba lunyawo olugobileyo .
• Iingalo nemilenze emifutshane netsaliweyo .

Iimpawu zamalungu:

• Ukukhubazeka kwamalungu ( ii-contractures ) – Oku kunokubangela ukuba amalungu angakwazi ukwanda ngokupheleleyo kwaye kunokunciphisa intshukumo.
• Amanye amalungu ayavaleka aze angakwazi ukuhamba . Oku kukwathintela intshukumo.
• Ukuqina okanye ukukhululeka kwamalungu, okanye ukukhubeka kwamalungu.
• Intlungu yamalungu enxulunyaniswa ne-osteoarthritis.

Iimpawu zomqolo:

• Ukugoba komqolo phambili (kyphosis), okunokwenza umqolo ubonakale ugobile.
• Ukugoba komqolo ecaleni (i-scoliosis).

Ngaba oku kunefuthe ekuphuhlisweni kwengqondo?

Akukho ngxelo ze-dystrophic dysplasia echaphazela uphuhliso lwengqondo okanye lobuchopho . Abantu abanale meko banengqondo eqhelekileyo . Ngoko ke akukho nto inokubangela ixhala ngayo.

Ifunyaniswa njani le meko?

Ngamanye amaxesha, i-dystrophic dwarfism inokubonwa ngaphambi kokuba umntwana azalwe . Ukuba kukho umntu kusapho lwakho onayo le meko, oogqirha banokucebisa uvavanyo lwemfuza kwasekuqaleni kokukhulelwa.

Le meko inokubonwa nge-ultrasound ye-fetal (i-fetal ultrasonography) . Olu vavanyo luthatha imifanekiso yomntwana njengoko ekhula esibelekweni. Ukuba imifanekiso ibonisa naziphi na iingxaki okanye ukukhubazeka emathanjeni, ugqirha unokucebisa uvavanyo lwemfuza lwe-dystrophic dysplasia.

Nangona kunjalo, uninzi lwexesha, le meko ifunyaniswa emva kokuba umntwana ezelwe . Ukuxilongwa kwenziwa ngokuhlolwa komntwana ngokwasemzimbeni kunye novavanyo lwemifanekiso olubonisa amathambo akhubazekileyo okanye amafutshane.

Luluphi unyango lwale nto?

Inyaniso kukuba, akukho nyango lwe-DTD. Unyango lujolise kakhulu ekulawuleni iimpawu zomntu ngamnye nokubanceda ukuba bahlale besempilweni kwaye besempilweni kangangoko.

Umntu onesi sifo unokufuna uncedo lweqela leengcali . Umzekelo:

• Ingcali ye-audiologist yingcali enyanga iingxaki zokuva .
• Umcebisi wezemfuza kufuneka ancede usapho luqonde le meko.
• Iingcali zezondlo zinokukunika iingcebiso malunga nokutya xa uneengxaki zokutya nomlomo.
• Ingcali yamazinyo yingcali yamazinyo enyanga iingxaki ezinxulumene namazinyo nemihlathi.
• Ingcali yamathambo ( ingcali yamathambo namalungu).
• Ugqirha wezingane .
• Iingcali zonyango lomzimba kunye neengcali zonyango lomsebenzi zikunceda ukuba ushukume kangangoko unako kwaye wenze imisebenzi yemihla ngemihla.
• Ingcali yezifo zemiphunga ( ugqirha ochwephesha kwizifo zemiphunga ) inceda ekulawuleni ubunzima bokuphefumla.
• Ukuba kuyimfuneko, oogqirha balungisa iziphene.

Ngoncedo lwabo bonke aba bantu, singanika inkxaso efunekayo ukunceda umntwana aphile ubomi obungcono kangangoko.

Ngaba ikho indlela yokuthintela oku?

Akukho ndlela yokuthintela i-dystrophic dwarfism. Ukuba kukho umntu kusapho lwakho onayo le meko, kucetyiswa uvavanyo lwemfuza ngaphambi kokuba ukhulelwe.Kungcono ukuthetha nogqirha wakho ngale nto. Uvavanyo kunye neengcebiso zinokunceda ekuqinisekiseni ukuba ungumthwali wesifo kwaye indlela esinokuchaphazela ngayo usapho lwakho.

Ngoko ke, ubomi buza kuba njani kule meko?

I-Diastrophic dysplasia inokubulala iintsana ezisandul’ ukuzalwa ezineengxaki zokuphefumla . Nangona kunjalo, abantu abaninzi baphila de babe ngabantu abadala . Ngokuxhomekeke kubukhulu besifo, banokuphila neentlungu kunye nokukhubazeka okuthile. Nangona kunjalo, ngonyango olufanelekileyo kunye nenkxaso, nabo banokuphila ubomi obuhle.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Ukuba umntwana wakho une-dystrophic dysplasia, kubalulekile ukufunda okungakumbi ngokubuza imibuzo efana nale:

• Zeziphi iindawo zomzimba womntwana wam ezichaphazelekileyo?
• Ngaba le nto iza kukuchaphazela ubomi bakho bonke?
• Luhlobo luni lweengcali umntwana wam afanele azibone? Kangaphi?
• Ngaba kukho into esinokuyenza ukulawula iintlungu zamathambo okanye zamalungu?
• Ngaba kukho amaqela enkxaso kubantu abanesi sifo okanye izifo ezifanayo?
• Ukuba ndinabantwana abaninzi, ngaba nabo banokuba nale meko?

Okokugqibela, eyona nto ibalulekileyo ekufuneka uyikhumbule!

I-Dystrophic dysplasia yimeko engaqhelekanga, ezalwa nayo echaphazela uphuhliso oluqhelekileyo lwe-cartilage kunye namathambo . Abantu abanale meko badla ngokuba nobude obufutshane, amalungu amafutshane, kunye neengxaki zamalungu. Ukuba kukho umntu kusapho lwakho onale meko, kubalulekile ukuthetha nogqirha malunga novavanyo lwemfuza kunye neengcebiso.

Khumbula, awuwedwa. Kwimeko efana nale, kubaluleke kakhulu ukwazi ulwazi olufanelekileyo, ukufumana iingcebiso zonyango ezifunekayo, kunye nokunxibelelana nabantu abaza kukuxhasa. Musa ukoyika ukubuza imibuzo koogqirha kunye nokucela uncedo.