Yintoni i-Primialial Dwarfism?

Umxholo

• Iindidi ezi-5 kunye neempawu zazo
• Imifanekiso
• I-Microcephalic osteodysplastic primordial dwarfism, uhlobo 1 (MOPD 1)
• 2.Microcephalic osteodysplastic primordial dwarfism, type 2 (MOPD 2)
• 3. Iseckel syndrome
• 4. Isifo sikaRussell-Silver
• 5. Isifo seMeier-Gorlin
• Oonobangela bokungaboni kakuhle
• Ukuchongwa kwesifo sokuqala esincinci
• Ukucinga
• Unyango lobunzima bokuqala
• Imbonakalo yobume obukhulu bomntu

Ushwankathelo

Ubuncinci bobukhulu liqela elinqabileyo nelisoloko liyingozi kwiimeko zemfuza ezikhokelela kubungakanani bomzimba omncinci kunye nokunye ukukhula okungaqhelekanga. Iimpawu zemeko yokuqala zibonakala kwinqanaba lesibeleko kwaye ziqhubeke kubuntwana, kwinqanaba lokufikisa, nasekubudaleni.

Iintsana ezinobunzima bokuqala zinokulinganisa ubunzima beepawundi ezimbini kunye nokulinganisa ii-intshi ezi-12 kuphela ubude.

Zintlanu iindidi eziphambili zobuncinci besifo. Ezinye zezi ntlobo zingakhokelela kwizifo ezibulalayo.

Kukwakho nezinye iintlobo zobumfitshane ezingezozokuqala. Ezinye zezi ntlobo zincinci ziyanyangwa ngehomoni yokukhula. Kodwa ubukhulu obuncinci ngokubanzi abuphenduli kunyango lwehomoni, kuba yinto yemfuza.

Imeko inqabile kakhulu. Iingcali ziqikelela ukuba akukho ngaphezulu kwe-100 yamatyala e-United States nase-Canada. Kuqheleke ngakumbi kubantwana abanabazali abanxulumene nemfuza.

Iindidi ezi-5 kunye neempawu zazo

Zintlanu iindidi ezisisiseko zobukhulu obuncinci. Zonke zibonakaliswa bubungakanani bomzimba omncinci kunye nesiqu esifutshane esiqala kwangoko ekukhuleni komntwana.

Imifanekiso

I-Microcephalic osteodysplastic primordial dwarfism, uhlobo 1 (MOPD 1)

Abantu abane-MOPD 1 bahlala benengqondo engaphuhliswanga, ekhokelela ekubanjweni, ekuphefumlweni, nasekukhuleni kwengqondo. Bahlala besweleka besebancinci.

Ezinye iimpawu zibandakanya:

• ubude obufutshane
• ikhola emide
• ithambo eligobileyo lethanga
• Izinwele ezinqabileyo okanye ezingekhoyo
• isikhumba esomileyo nesikhangeleka sikhulile

I-MOPD 1 ikwabizwa ngokuba yi-Taybi-Linder syndrome.

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

Nangona kunqabile ngokubanzi, olu luhlobo oluqhelekileyo lobunzima obuncinci kune-MOPD 1. Ukongeza kubungakanani bomzimba omncinci, abantu abane-MOPD 2 banokuba nokunye okungaqhelekanga, kubandakanya:

• impumlo evelele
• amehlo aqumbileyo
• amazinyo amancinci (microdontia) ene-enamel engalunganga
• Ilizwi elikhwazayo
• umqolo ogobileyo (scoliosis)

Ezinye izinto ezinokukhula ngokuhamba kwexesha zibandakanya:

• ibala elingaqhelekanga lolusu
• ukubona kude
• ukutyeba kakhulu

Abanye abantu abane-MOPD 2 bahlakulela ukunciphisa imithambo ekhokelela kwingqondo. Oku kunokubangela ukuphuma kwegazi kunye nemivumbo, nokuba umncinci.

I-MOPD 2 ibonakala ixhaphake kakhulu kubantu basetyhini.

3. Iseckel syndrome

ISeckel syndrome yayibizwa ngokuba kukufiphala okuphethwe ziintaka ngenxa yento eyayibonwa njengentloko yentloko.

Iimpawu zibandakanya:

• ubude obufutshane
• intloko encinci nengqondo
• amehlo amakhulu
• ukuphuma kwempumlo
• ubuso obumxinwa
• ukuhla umhlathi osezantsi
• ibunzi eliguqukayo
• intliziyo engalunganga

Ukuphazamiseka kwengqondo ekukhuleni kunokubakho, kodwa akuqhelekanga njengokucinga ukuba kunikwe ingqondo encinci.

4. Isifo sikaRussell-Silver

Le yenye yeendlela zokuba mncinci okwenzeka ngamanye amaxesha ukuphendula kunyango ngehomoni yokukhula. Iimpawu zeRussell-Silver syndrome zibandakanya:

• ubude obufutshane
• Ubume bentloko engunxantathu ngebunzi elibanzi kunye nesilevu esolathisiweyo
• i-asymmetry yomzimba, encipha ngokobudala
• umnwe ogobileyo okanye iminwe (i-camptodactyly)
• iingxaki zombono
• iingxaki zokuthetha, kubandakanya ubunzima bokwenza amagama acacileyo (i-verbal dyspraxia) kunye nolibaziseko lwentetho

Nangona kuncinci kunesiqhelo, abantu abane-syndrome ngokubanzi bade kunabo baneentlobo ze-MOPD 1 no-2 okanye iSeckel syndrome.

Olu hlobo lokuncipha kokuphambili kukwabizwa ngokuba yi-Silver-Russell dwarfism.

5. Isifo seMeier-Gorlin

Iimpawu zolu hlobo lobunzima obuncinci zibandakanya:

• ubude obufutshane
• indlebe engaphuhliswanga (microtia)
• intloko encinci (microcephaly)
• umhlathi ongaphuhliswanga (micrognathia)
• i-kneecap elahlekileyo okanye engaphuhliswanga (patella)

Phantse zonke iimeko ze-Meier-Gorlin syndrome zibonisa ubuncinci, kodwa ayizizo zonke ezibonisa intloko encinci, umhlathi ongaphuhliswanga, okanye i-kneecap engekho.

Elinye igama le-Meier-Gorlin syndrome yindlebe, i-patella, isifo esifutshane.

Oonobangela bokungaboni kakuhle

Zonke iintlobo zobukhulu obuncinci zibangelwa lutshintsho kwimfuza. Utshintsho olwahlukileyo kwimfuza lubangela iimeko ezahlukileyo ezenza ukuba umntu abe mncinci.

Kwiimeko ezininzi, kodwa ayisiyiyo yonke, abantu abanobunzima obunqabileyo bafumana ilifa lomfuziselo oguqukayo kumzali ngamnye. Oku kubizwa ngokuba yimeko ye-autosomal recessive. Abazali abasichazi ngokubanzi isifo ngokwabo.

Nangona kunjalo, uninzi lweziganeko zokuba mncinci kokubalulekileyo ziinguqulelo ezintsha, ke ngoko abazali basenokungabi nawo ufuzo.

Kwi-MOPD 2, uguquko lwenzeka kuhlobo olulawula ukuveliswa kweproteinic perrinentrin. Inoxanduva lokuzala kunye nokukhula kweeseli zomzimba wakho.

Ngenxa yokuba yingxaki kwimfuza elawula ukukhula kweeseli, kwaye hayi ukunqongophala kokukhula kwehomoni, unyango ngehommone yokukhula aluchaphazeli iintlobo ezininzi zobuncinci bokuqala. Inye into ngaphandle kukaRussell-Silver syndrome.

Ukuchongwa kwesifo sokuqala esincinci

Ubuncinci bobuncinci kunokuba nzima ukufumanisa isifo. Kungenxa yokuba ubungakanani obuncinci kunye nobunzima bomzimba obuphantsi kunokuba luphawu lwezinye izinto, ezinje ngesondlo esibi okanye ukuphazamiseka komzimba.

Ukuchongwa kwesiseko kusekwe kwimbali yosapho, kwiimpawu zomzimba, kunye nokuphononongwa ngononophelo kweX-reyi kunye neminye imifanekiso. Njengokuba ezi ntsana zincinci kakhulu ekuzalweni, zihlala zibhedlele ixesha elithile, kwaye inkqubo yokufumana isifo iyaqala ngoko.

Oogqirha, njengogqirha wabantwana, i-neonatologist, okanye i-geneticist, baya kukubuza malunga nokuphakama okuphakathi kwabantwana bakowenu, abazali kunye nootatomkhulu ukunceda ukufumanisa ukuba ubude obufutshane luphawu losapho hayi isifo. Baya kugcina irekhodi lokuphakama, ubunzima, kunye nokujikeleza kwentloko yomntwana wakho ukuthelekisa ezi kwiipateni eziqhelekileyo zokukhula.

Ukuvavanywa kwemfuza nakho ngoku kuyafumaneka ukunceda ukungqinisisa uhlobo oluthile lobuchwephesha bokuqala.

Ukucinga

Ezinye zeempawu ezizodwa zobungqingqwa bokuqala obuqhele ukubonwa kwii-X-ray zibandakanya:

• ukulibaziseka kwiminyaka yobudala bethambo kangangeminyaka emibini ukuya kwemihlanu
• zimbini kuphela iimbambo zeembambo endaweni ye-12 yesiqhelo
• isinqe esimxinwa nesicaba
• ukunciphisa (ukugqithisa) kwe-shaft yamathambo amade

Uninzi lwexesha, iimpawu zobuncinci zinokufunyanwa ngexesha lokubeleka kwe-ultrasound.

Unyango lobunzima bokuqala

Ngaphandle konyango lwehomoni kwimeko yeRussell-Silver syndrome, uninzi lonyango alunakunyanga ukufutshane okanye ubunzima obuphantsi bomzimba kubuncinci bokuqala.

Utyando ngamanye amaxesha lunokunceda ekunyangeni iingxaki ezinxulumene nokukhula kwethambo okungalinganiyo.

Uhlobo lotyando ekuthiwa lolwandisiweyo lwamalungu omzimba lunokuzama. Oku kubandakanya iinkqubo ezininzi. Ngenxa yomngcipheko noxinzelelo olubandakanyekayo, abazali bahlala belinda de abe mdala umntwana ngaphambi kokuzama.

Imbonakalo yobume obukhulu bomntu

Ubuncinci obuphambili bunokubaluleka, kodwa kunqabile kakhulu. Ayingabo bonke abantwana abanale meko abaphila bade babe ngabantu abadala. Ukubeka iliso rhoqo kunye nokutyelela ugqirha kunokunceda ekuchongeni iingxaki kunye nokuphucula umgangatho wobomi bomntwana wakho.

Inkqubela phambili kunyango lwemizila yemfuza inesithembiso sokuba unyango lonyango oluntsokothileyo ngolunye usuku lunokufumaneka.

Ukwenza elona xesha lifanelekileyo kungaphucula impilo yomntwana wakho kunye nabanye osapho lwakho. Cinga ukujonga ulwazi lonyango kunye nezixhobo ekunciphiseni okunikezelwa ngabantu abancinci baseMelika.