I-Meckel-Gruber syndrome - eyaziwa nangokuthi i-dysencephalia splanchnocystica, i-Meckel syndrome, ne-Gruber syndrome - iyisifo esiyinkinga yokuzalwa esiyibangela izinkinga ezihlukahlukene zomzimba ezinzima. Ngenxa yalezi zimo ezinzima, labo abane-Meckel syndrome bafa ngaphambi noma ngemva nje kokuzalwa.
I-Genetic Mutations
I-Meckel syndrome ihlotshaniswa nokuguqulwa okungenani kwesisodwa sezakhi zofuzo eziyisishiyagalombili.
Izinguquko kulezi zincwadi eziyisishiyagalombili zezinhlobo zomzimba cishe ngamaphesenti angama-75 ama-Meckel-Gruber amacala. Amanye amaphesenti angu-25 abangelwa izinguquko ezingakatholakali.
Ukuze ingane ibe ne-Meckel-Gruber syndrome, bobabili abazali kufanele baphathe amakhophi wegciwane lesisindo. Uma bobabili abazali bephethe isakhi sofuba, kukhona ithuba elingamaphesenti angu-25 ingane yabo izoba nesimo. Kukhona ithuba elingamaphesenti angu-50 ukuthi ingane yabo izoba nefa eyodwa yegesi. Uma ingane izuza ikhophi eyodwa yegesi, iyoba yithwala yaleso simo. Ngeke babe nesimo ngokwabo.
Ukuvama
Izinga lomphumela we-Meckel-Gruber syndrome lihluka kusuka ku-1 kuya ku-13 250 ukuya ku-1 ku-140,000 ukuzalwa okuphilayo. Ucwaningo luye lwabona ukuthi ezinye izizwe, ezinjengezozintambo zaseFinland (1 kwabangu-9,000) kanye nozalo lwaseBelgium (cishe abantu abayi-3 000), kungenzeka ukuthi zithinteke. Amanye amazinga amanani aphezulu atholakale phakathi kwamaBedouins e-Kuwait (1 ku-3 500) naphakathi kwamaNdiya aseGujarati (1 ku-1,300).
Lezi zizwe nazo zinamazinga aphezulu wokuthwala, noma kuphi ukusuka ku-1 kuya ku-50 kuya ku-1 kubantu abangu-18 abathwele ikhophi yamagciwane angalungile. Naphezu kwala mazinga okukhula, lesi simo singathinta noma yikuphi isizinda sobuzwe, kanye nabesifazane bobabili.
Izimpawu
I-Meckel-Gruber syndrome yaziwa ngokubangela ukukhubazeka okungokwenyama, kufaka phakathi:
- Indawo enkulu epholile (i-fontanel), evumela ukuthi ubuchopho kanye nomswakama womgogodla uphume (encephalocele)
- Izinkinga zezinhliziyo
- Izinso ezinkulu ezigcwele ama-cysts (ama-polycystic izinso)
- Iminwe eyengeziwe noma izinzwani ( polydactyly )
- Ukwehla kwesibindi (isibindi se-fibrosis)
- Ukuthuthukiswa kwamaphaphu angaphelele (i-pulmonary hypoplasia)
- I-Cleft lip ne-cleft palate
- Ukungajwayelekile komzimba
Izinso ze-cystic yilona uphawu oluvame kakhulu, olulandelwa yi-polydactyly. Iningi labantu ababulawa yiMeckel-Gruber libangelwa i-hypoplasia yamapulmasi, ukuthuthukiswa kwamaphaphu angaphelele.
Ukuxilongwa
Izinsana ezine-Meckel-Gruber syndrome zingatholakala ngokusekelwe ekubukeni kwazo ngesikhathi sokuzalwa, noma nge-ultrasound ngaphambi kokuzalwa. Amacala amaningi atholakele nge-ultrasound atholakala ku-trimester yesibili. Noma kunjalo, ochwepheshe abanekhono bangakwazi ukubona isimo ngesikhathi sokuqala kwekota. Ukuhlaziywa kwe-Chromosome, noma nge-sriling vridion noma i-amniocentesis, kungenziwa ukulawula i- Trisomy 13 , isimo esifanayo esifanayo esifanayo nesimpawu ezifanayo.
Ukwelapha
Ngeshwa, ayikho ukwelashwa kwe-Meckel-Gruber syndrome ngoba amaphaphu angaphasi kwengqondo nezinso ezingavamile azikwazi ukusekela ukuphila. Isimo sinesilinganiso samaphesenti angu-100 sokufa phakathi nezinsuku zokuzalwa.
Uma i-Meckel-Gruber syndrome itholakele ngesikhathi sokukhulelwa, imindeni ethile ingakhetha ukuqeda ukukhulelwa.
Imithombo:
UCarter, SM (2015). I-Meckel-Gruber syndrome. eMedicine.
I-NIH Genetics Home Reference. I-Meckel Syndrome (2016)