Kuyini Ubuphakathi Obubaluleke Kakhulu?

-Delile

• Izinhlobo ezi-5 nezimpawu zazo
• Izithombe
• 1.Imicrocephalic osteodysplastic primordial dwarfism, type 1 (MOPD 1)
• 2.Imicrocephalic osteodysplastic primordial dwarfism, type 2 (MOPD 2)
• 3. Iseckel syndrome
• 4. I-Russell-Silver syndrome
• 5. Isifo se-Meier-Gorlin
• Izimbangela zokuncipha okuyisisekelo
• Ukuxilongwa kokuncipha okuyisisekelo
• Ukufanekisa
• Ukwelashwa kokuncipha okuyisisekelo
• Umbono wobuncane obukhulu

Ukubuka konke

I-Primordial dwarfism iyiqembu elingajwayelekile nelivame ukuba yingozi lezimo zofuzo eliholela kusayizi omncane womzimba nokunye ukukhula okungahambi kahle. Izimpawu zalesi simo zivele kuqala esigabeni sengane futhi ziqhubeke kusukela ebuntwaneni, ebusheni nasekukhuleni.

Izingane ezisanda kuzalwa ezinokuncipha okuncane zingaba nesisindo esingamakhilogremu ama-2 bese zilinganisa ama-intshi ayi-12 kuphela ubude.

Kunezinhlobo eziyisihlanu eziyinhloko zobufushane obukhulu. Ezinye zalezi zinhlobo zingaholela ezifweni ezibulalayo.

Kukhona nezinye izinhlobo zobuncane okungezona ezokuqala. Ezinye zalezi zinhlobo ze-dwarfism zingelashwa ngama-hormone okukhula. Kepha ubufushane obuphambili ngokuvamile abuphenduli ekwelashweni kwamahomoni, ngoba kuyizakhi zofuzo.

Isimo asivamile kakhulu. Ochwepheshe balinganisela ukuthi awekho amacala angaphezu kwe-100 e-United States naseCanada. Kuvame kakhulu ezinganeni ezinabazali ezihlobene nezofuzo.

Izinhlobo ezi-5 nezimpawu zazo

Kunezinhlobo ezinhlanu eziyisisekelo zobufushane obukhulu. Zonke zibonakala ngosayizi omncane womzimba nobude obufushane obuqala ekuqaleni kokukhula kombungu.

Izithombe

1.Imicrocephalic osteodysplastic primordial dwarfism, type 1 (MOPD 1)

Abantu abane-MOPD 1 bavame ukuba nobuchopho obungathuthuki kahle, okuholela ekubanjweni, ukuphefumula, nokuphazamiseka kwengqondo. Zivame ukufa zisencane.

Ezinye izimpawu zifaka:

• isiqu esifushane
• ikhola elihlanganisiwe
• ithambo lethanga eligobile
• izinwele ezincane noma ezingekho
• isikhumba esomile nesibukeka semdala

I-MOPD 1 ibizwa nangokuthi i-Taybi-Linder syndrome.

2.Imicrocephalic osteodysplastic primordial dwarfism, type 2 (MOPD 2)

Yize kungavamile kakhulu, lolu uhlobo oluvame kakhulu lokuncipha okuncane kakhulu kune-MOPD 1. Ngaphezu kosayizi omncane womzimba, abantu abane-MOPD 2 bangaba nokunye okungajwayelekile, kufaka phakathi:

• ikhala elivelele
• Amehlo aqhamukayo
• amazinyo amancane (microdontia) nge koqweqwe lwawo abampofu
• izwi elimuncu
• umgogodla ogobile (scoliosis)

Ezinye izici ezingakhula ngokuhamba kwesikhathi zifaka:

• i-pigmentation yesikhumba engavamile
• ukubona kude
• ukukhuluphala ngokweqile

Abanye abantu abane-MOPD 2 bahlakulela ukuvuleka kwemithambo eholela ebuchosheni. Lokhu kungadala ukopha nokushaywa unhlangothi, noma usemncane.

I-MOPD 2 ibonakala ivame kakhulu kwabesifazane.

3. Iseckel syndrome

ISeckel syndrome yayijwayele ukubizwa ngokuthi yi-dwarfism ephethwe yizinyoni ngenxa yalokho okwakubhekwa njengokumila kwekhanda okwenyoni.

Izimpawu zifaka:

• isiqu esifushane
• ikhanda elincane nobuchopho
• amehlo amakhulu
• kuphume ikhala
• ubuso obuncane
• ukuhlehla umhlathi ophansi
• ukuhlehla kwebunzi
• inhliziyo engaphelele

Isifo sokukhula kwengqondo singavela, kepha asijwayelekile njengokucatshangwa ukuthi kunikezwe ubuchopho obuncane.

4. I-Russell-Silver syndrome

Le yile ndlela eyodwa yobuncane obukhulu kwesinye isikhathi obuphendula ekwelashweni ngama-hormone okukhula. Izimpawu ze-Russell-Silver syndrome zifaka:

• isiqu esifushane
• ukwakheka kwekhanda okungunxantathu ngesiphongo esibanzi nesilevu esikhombe
• i-asymmetry yomzimba, encipha ngobudala
• umunwe ogobile noma iminwe (camptodactyly)
• izinkinga zokubona
• izinkinga zokukhuluma, kufaka phakathi ubunzima bokwakha amagama acacile (i-verbal dyspraxia) nenkulumo ebambezelekile

Yize kuncane kunokujwayelekile, abantu abanalesi sifo ngokuvamile bade kunabo abanezinhlobo ze-MOPD 1 no-2 noma i-Seckel syndrome.

Lolu hlobo lokuncipha okuyisisekelo lwaziwa nangokuthi yi-Silver-Russell dwarfism.

5. Isifo se-Meier-Gorlin

Izimpawu zaleli fomu lobuncane obukhulu zifaka:

• isiqu esifushane
• indlebe engathuthuki kahle (microtia)
• ikhanda elincane (i-microcephaly)
• umhlathi ongathuthuki kahle (micrognathia)
• i-kneecap elahlekile noma engathuthuki kahle (patella)

Cishe wonke amacala we-Meier-Gorlin syndrome akhombisa ukufiphala, kepha hhayi wonke akhombisa ikhanda elincane, umhlathi ongathuthuki kahle, noma i-kneecap engekho.

Elinye igama le-Meier-Gorlin syndrome yindlebe, i-patella, i-short stature syndrome.

Izimbangela zokuncipha okuyisisekelo

Zonke izinhlobo zobuncane obudala zibangelwa izinguquko zofuzo. Izinguquko ezahlukahlukene zofuzo zidala izimo ezahlukahlukene ezakha ukubukeka okuncane kakhulu.

Ezimweni eziningi, kodwa hhayi bonke, abantu abanobunzima obukhulu kakhulu bathola isakhi sofuzo kumzali ngamunye. Lokhu kubizwa ngokuthi yisimo se-autosomal recessive. Ngokuvamile abazali abasivezi ngokwabo lesi sifo.

Kodwa-ke, amacala amaningi wobuncane obuphambili yizinguquko ezintsha, ngakho-ke abazali kungenzeka ukuthi empeleni abanalo ufuzo.

Kwi-MOPD 2, ukuguquka kwenzeka kuhlobo olulawula ukukhiqizwa kweprotheni pericentrin. Inesibopho sokukhiqiza nokukhula kwamaseli omzimba wakho.

Ngoba kuyinkinga ezakhiweni zofuzo ezilawula ukukhula kwamaseli, hhayi ukushoda kwe-hormone yokukhula, ukwelashwa nge-hormone yokukhula akuthinti izinhlobo eziningi zobuncane bokuqala. Okuhlukile yiRussell-Silver syndrome.

Ukuxilongwa kokuncipha okuyisisekelo

Ukubanzima okuyisisekelo kungaba nzima ukukuthola. Lokhu kungenxa yokuthi usayizi omncane nesisindo somzimba esiphansi kungaba uphawu lwezinye izinto, njengokungondleki kahle noma ukuphazamiseka komzimba.

Ukuxilongwa kusekelwe emlandweni womndeni, izici zomzimba, nokubuyekezwa ngokucophelela kwe-X-ray nokunye ukucabanga. Njengoba lezi zingane zincane kakhulu lapho zizalwa, zivame ukulaliswa esibhedlela isikhashana, futhi inqubo yokuthola ukuxilongwa iqala lapho.

Odokotela, njengodokotela wezingane, i-neonatologist, noma i-geneticist, bazokubuza mayelana nobude obuphakathi kwezingane zakini, abazali, nogogo nomkhulu ukusiza ukuthola ukuthi ubude obufushane buyisici somndeni yini hhayi ukugula. Bazogcina futhi irekhodi lobude, isisindo, kanye nobubanzi bekhanda lengane yakho ukuqhathanisa lokhu namaphethini wokukhula okujwayelekile.

Ukuhlolwa kofuzo nakho kuyatholakala ukusiza ukuqinisekisa uhlobo oluthile lobuncane obuyisisekelo.

Ukufanekisa

Ezinye izici ezikhethekile zobukhulu obukhulu obujwayele ukubonwa kuma-X-ray zifaka:

• ukubambezeleka enkathini yamathambo cishe iminyaka emibili kuya kwemihlanu
• yizimbambo eziyi-11 kuphela zezimbambo esikhundleni sezingu-12 ezijwayelekile
• okhalo oluncane noluyisicaba
• ukunciphisa (ukugcwala ngokweqile) komgudu wamathambo amade

Isikhathi esiningi, izimpawu zobuncane zingatholakala ngesikhathi se-ultrasound yangaphambi kokubeletha.

Ukwelashwa kokuncipha okuyisisekelo

Ngaphandle kokwelapha i-hormone ezimweni ze-Russell-Silver syndrome, izindlela eziningi zokwelapha ngeke zelaphe ukufushane noma isisindo somzimba esiphansi ngobufushane obungejwayelekile.

Ukuhlinzwa kwesinye isikhathi kungasiza ekwelapheni izinkinga ezihlobene nokukhula kwamathambo okungalingani.

Uhlobo lokuhlinzwa olubizwa ngokuthi ukunweba imilenze enwetshiwe lungazanywa. Lokhu kufaka izinqubo eziningi. Ngenxa yengozi nokucindezeleka okuhilelekile, abazali bavame ukulinda ingane ize ikhule ngaphambi kokuba izame.

Umbono wobuncane obukhulu

Ubuncane obukhulu bungaba bukhulu, kepha kuyaqabukela kakhulu. Akuzona zonke izingane ezikulesi simo eziqhubeka zikhulele ebudaleni. Ukuqapha nokuvakasha njalo kudokotela kungasiza ekuboneni izinkinga futhi kuthuthukise ikhwalithi yempilo yengane yakho.

Intuthuko ekwelashweni kwezakhi zofuzo inesithembiso sokuthi ngolunye usuku ukwelashwa kobufushane obukhulu kungatholakala.

Ukwenza okuhle kakhulu ngesikhathi kungathuthukisa inhlalakahle yengane yakho neyabanye emndenini wakho. Cabanga ngokuhlola imininingwane yezokwelapha nezinsizakusebenza ekunciphiseni okunikezwa yi-Little People of America.