Ingabe ingane yakho inenkinga yokukhula kwamathambo? Ake sifunde nge-Diastrophic Dysplasia

Wake wezwa ngamagama athi ``Diastrophic Dysplasia''? Lokhu kungase kube yinto entsha kuwe. Kodwa futhi lesi yisimo sempilo esingavamile nesiqondile okufanele sisiqaphele. Cabanga ngakho, ngezinye izikhathi lapho sibona izinto ezifana nezitho zamalungu ezincane zethu zimfushane kancane, futhi amalunga engakwazi ukwelulwa kahle, sizizwa sesaba kakhulu, akunjalo? Lesi yisimo esingabangela izimpawu ezinjalo. Ngakho-ke, ake sixoxe ngalokhu namuhla, ngendlela ongayiqonda kahle kakhulu.

Iyini ngempela le dysplasia ye-diastrophic?

Kalula nje, i-dystrophic dysplasia yisimo esingavamile esithinta ukukhula kahle kwe-cartilage kanye namathambo . Sizalwa naso , okusho ukuthi umntwana uzalwa nalesi simo. Singadluliselwa ezizukulwaneni ngezizukulwane.

Lesi simo singaholela kakhulu ezintweni ezilandelayo:

• I-Joint dysplasia : Lokhu kusho ukuthi amalunga emzimbeni wethu awakhuli kahle.
• Ukufinyela kwezingalo nemilenze.
• Ubude obufushane .
• Ukuthuthukiswa okungavamile kwesistimu yamathambo (i-skeletal dysplasia).

Lesi simo singathinta izingxenye ezahlukene zomzimba. Isibonelo:

• Izindlebe
• Ubuso
• Izinyawo
• Izandla
• Indawo yenqulu
• Imilenze
• Umgogodla

Ngezinye izikhathi ibizwa ngokuthi `DD` noma `DTD`, `Diastrophic dwarfism`, noma `Diastrophic nanism syndrome`. Noma ngabe yikuphi, kusho isimo esifanayo.

Kungavamile kangakanani lesi simo?

Empeleni lesi yisimo esingavamile kakhulu . Kulinganiselwa ukuthi yinye kuphela kwezinsana ezingu-500,000 ezisanda kuzalwa ethinteka yilesi sifo. Kodwa-ke, kwamanye amazwe, njengeFinland, lesi simo sibonakala kaningi. Isizathu salokhu kuthiwa yizixhumanisi zabo zofuzo. Kulelo zwe, lesi simo sithinta ingane eyodwa kuphela kwezingu-30,000.

Kungani lokhu kwenzeka? Iyini imbangela yalokhu?

Imbangela eyinhloko ye-dystrophic dysplasia ukuguquka kwezakhi zofuzo . Lokhu kuyifa. Lokhu kusho ukuthi uma othile emndenini enayo, kunethuba lokuthi nezingane zakhe nazo zizoba nayo.

Lokhu kuguquka kwezakhi zofuzo kuthinta isakhi sofuzo esibaluleke kakhulu ekuthuthukisweni kwe-cartilage emzimbeni wethu. Uyazi, i-cartilage iyisicubu esiqinile nesiguquguqukayo esisetshenziselwa ukwakha uhlaka lwamathambo lomntwana ngesikhathi sokukhulelwa, okungukuthi, lapho esesibelethweni sikanina.

Iningi le-cartilage liphenduka ithambo njengoba umntwana ekhula. Kodwa i-cartilage ihlala ezindaweni ezifana nemikhawulo yamathambo, ikhala, nezindlebe. Ngakho-ke, lapho lokho kuguquka kwezakhi zofuzo kwenzeka, lelo jini alikwazi ukufaka isandla kahle ekwakhekeni kwe-cartilage namathambo.

Yikuphi ukuguquka kwezakhi zofuzo okuthinta lokhu?

Ukuguquka kwezakhi zofuzo okubangela lesi simo, "i-DTD," kwenzeka ku-"SLC26A2" gene . Kubizwa nangokuthi "i-DTDST" (i-dystrophic dysplasia sulfate transporter). Le gene ikhiqiza iphrotheni esiza ekwakheni i-cartilage nokuguqula i-cartilage ibe yithambo.

Into ebalulekile ukuthi umuntu angaba ``umthwali`` walolu shintsho lwezakhi zofuzo, kodwa angabi naso lesi sifo. Kodwa-ke, uma bobabili abazali bengabathwali, kunethuba elingama-25% lokuthi ingane yabo izoqala lesi sifo.

Yiziphi izimpawu ezingabonakala kulesi simo?

Izimpawu ze-diastrophic dwarfism zingahluka kakhulu kumuntu nomuntu. Nakuba abantu abaningi beba nobude obufushane nokukhula okulinganiselwe, ezinye izimpawu zingavela nasezingxenyeni ezahlukene zomzimba. Ake sibheke ukuthi ziyini.

Izimpawu ezingabonakala ekhanda nasemlonyeni:

• Ibunzi elibanzi kanye nezinwele eziphakeme.
• Ukuqina kwendlebe, ukuvuvukala, noma ukushintsha kwesimo .
• Indawo encane kakhulu yomhlathi (i-micrognathia).
• Ukukhubazeka kwamazinyo, isibonelo, amazinyo amancane noma aminyene.
• Umlomo oqhekekile uwumhubhe ongavamile ophahleni lomlomo.
• Ubunzima bokuphefumula .

Izici zemilenze:

• Iminwe emifushane ngendlela engavamile (i-brachydactyly).
• "Izithupha zomgibeli" – lokho kusho ukuthi izithupha zibhekiswe ngaphandle.
• Unyawo olulodwa noma zombili zijikelwe ngaphakathi (`unyawo lwe-club`). Lokhu kubizwa nangokuthi unyawo lwe-club .
• Izingalo nemilenze emifushane nedonselekayo .

Izici zamalunga:

• Ukukhubazeka kwamalunga (` ukugoba` ) – Lokhu kungabangela ukuthi amalunga angakwazi ukunwebeka ngokugcwele futhi ukunyakaza kungase kuncishiswe.
• Amanye amalunga ayavaleka ndawonye bese enganyakazi . Lokhu futhi kunciphisa ukunyakaza.
• Ukuqina noma ukukhululeka kwamalunga, noma ukukhumuka kwamalunga.
• Ubuhlungu bamalunga obuhambisana ne-osteoarthritis.

Izici zomhlane:

• Ukugoba komgogodla phambili (kyphosis), okungenza umgogodla ubonakale ugobile.
• Ukugoba komgogodla eceleni (i-scoliosis).

Ingabe lokhu kunomthelela ekukhuleni kobuchopho?

Akukho mibiko ye-dystrophic dysplasia ethinta ubuchopho noma ukukhula kobuchopho . Abantu abanalesi simo banobuhlakani obujwayelekile . Ngakho-ke akukho okufanele ukhathazeke ngakho.

Lesi simo sitholakala kanjani?

Ngezinye izikhathi, i-dystrophic dwarfism ingatholakala ngaphambi kokuba umntwana azalwe . Uma othile emndenini wakho enalesi simo, odokotela bangase batuse ukuhlolwa kofuzo ekuqaleni kokukhulelwa.

Lesi simo singatholakala futhi nge-ultrasound yengane esanda kuzalwa (i-ultrasound yengane esanda kuzalwa) . Lokhu kuhlolwa kuthatha izithombe zomntwana njengoba ekhula esibelethweni. Uma izithombe zibonisa noma yikuphi ukukhubazeka noma ukukhubazeka emathanjeni, udokotela angase ancome ukuhlolwa kwezakhi zofuzo kwe-dystrophic dysplasia.

Kodwa-ke, isikhathi esiningi, lesi simo sitholakala ngemva kokuzalwa komntwana . Ukuxilongwa kwenziwa ngokuhlolwa ngokomzimba komntwana kanye nokuhlolwa kwezithombe okubonisa amathambo akhubazekile noma amafushane.

Iyini indlela yokwelapha lokhu?

Eqinisweni, ayikho ikhambi le-DTD. Ukwelashwa kuhloswe kakhulu ekuphatheni izimpawu zomuntu ngamunye nokubasiza ukuba balondoloze impilo nenhlalakahle engcono kakhulu.

Umuntu onalesi simo angadinga usizo lwethimba lochwepheshe . Isibonelo:

• Udokotela wezindlebe unguchwepheshe ophatha izinkinga zokuzwa .
• Umeluleki wezakhi zofuzo kufanele asize umndeni ukuqonda lesi simo.
• Ochwepheshe bezokudla bangakunikeza iseluleko sokudla uma unezinkinga zomlomo nezokudla.
• Udokotela wamazinyo ungudokotela wamazinyo ochwepheshe owelapha izinkinga ezihlobene namazinyo nemihlathi.
• Udokotela wamathambo ( uchwepheshe wamathambo namalunga).
• Udokotela wezingane .
• Abelaphi bomzimba kanye nabelaphi bomsebenzi bakusiza ukuthi ushukume ngangokunokwenzeka futhi wenze imisebenzi yansuku zonke.
• Udokotela wezifo zamaphaphu ( udokotela ochwepheshe bezifo zamaphaphu ) usiza ekuphatheni ubunzima bokuphefumula.
• Uma kudingeka, odokotela abahlinzayo balungisa ukukhubazeka.

Ngosizo lwabo bonke laba bantu, singanikeza ukwesekwa okudingekayo ukusiza ingane iphile impilo engcono kakhulu.

Ingabe ikhona indlela yokuvimbela lokhu?

Ayikho indlela yokuvimbela i-dystrophic dwarfism. Uma othile emndenini wakho enalesi simo, kunconywa ukuhlolwa kofuzo ngaphambi kokukhulelwa.Kungumqondo omuhle ukukhuluma nodokotela wakho ngalokhu. Ukuhlolwa nokwelulekwa kungasiza ekunqumeni ukuthi ungumthwali wegciwane nokuthi lingawuthinta kanjani umndeni wakho.

Ngakho-ke, impilo izoba njani ngalesi simo?

I-dysplasia ye-diastrophic ingaba yingozi ezinganeni ezisanda kuzalwa ezinezinkinga zokuphefumula . Kodwa-ke, abantu abaningi baphila baze babe badala . Kuye ngobukhulu besifo, kungase kudingeke baphile nobuhlungu nokukhubazeka okuthile. Kodwa-ke, ngokunakekelwa okufanele kwezokwelapha nokusekelwa, nabo bangaphila impilo enhle.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Uma ingane yakho ine-dystrophic dysplasia, kubalulekile ukufunda okwengeziwe ngokubuza imibuzo efana nale:

• Yiziphi izingxenye zomzimba wengane yami ezithintekile?
• Ingabe lokhu kuyinto ezokuthinta impilo yakho yonke?
• Hlobo luni lochwepheshe okufanele ingane yami ilubone? Kangaki?
• Ingabe kukhona esingakwenza ukuze silawule ubuhlungu bamathambo noma bamalunga?
• Ingabe kukhona amaqembu okusekela abantu abanalesi simo noma izifo ezifanayo?
• Uma nginezingane eziningi, zingaba nalesi simo?

Ekugcineni, into ebaluleke kakhulu okufanele uyikhumbule!

I-Dystrophic dysplasia yisimo esingavamile, esizalwa naso esithinta ukukhula okuvamile kwe-cartilage namathambo . Abantu abanalesi simo bavame ukuba nobude obufushane, izitho ezimfushane, nezinkinga zamalunga. Uma othile emndenini wakho enalesi simo, kubalulekile ukukhuluma nodokotela mayelana nokuhlolwa kwezakhi zofuzo kanye nokwelulekwa.

Khumbula, awuwedwa. Esimweni esinjengalesi, kubaluleke kakhulu ukwazi ulwazi olufanele, ukuthola iseluleko sezokwelapha esidingekayo, nokuxhumana nabantu abazokusekela. Ungesabi ukubuza imibuzo kodokotela nokucela usizo.

I- Diastrophic Dysplasia, Izifo Zofuzo, Ukukhula Kwamathambo, Ukuqina Kwesihlungu, Ukufinyela, Ukuphazamiseka Kwamalunga