I-Meckel-Gruber syndrome - eyaziwa nangokuthi i-dysencephalia splanchnocystica, i-Meckel syndrome, kunye ne-Gruber syndrome- yintlupheko yesifo esenza izifo ezinobungozi obukhulu. Ngenxa yezi mpawu ezinzima, abo abaneMeckel syndrome bafa ngaphambi okanye emva nje kokuzalwa.
Iintshukumo zoMzimba
I-Meckel syndrome idibene nokuguqulwa okungenani enye yeezityalo ezisibhozo.
Utshintsho kwi-akhawunti yeejethi ezisibhozo malunga neepesenti ezingama-75 zeMeckel-Gruber. Ezinye iipesenti ezingama-25 zibangelwa yimitshintshi engekafumaniseki.
Ukuze umntwana abe ne-Meckel-Gruber syndrome, bobabini abazali kufuneka bathathe iikopi zesini esingenasiphelo. Ukuba ngaba bobabini abazali baphethe i-gene defective, i-25% yepesenti ithuba lokuba umntwana uya kuba nalo mqathango. Kukho ithuba lokufumana ipesenti ezingama-50 ukuba umntwana wabo uzuze enye ikopi yemfuza. Ukuba umntwana uzuza iikopi enye yemfuza, baya kuba ngumphathiswa wemeko. Abayi kuba nalo mqathango ngokwabo.
Ukukhula
Izinga lomlinganiselo we-Meckel-Gruber syndrome lihluka ukusuka ku-1 ukuya ku-13,250 ukuya ku-1 kuma-140,000 azalwa ngokuzalwa. Uphando lufumene ukuba abantu abathile, njengabo baseNtshonalanga (1 kwabangu-9,000) kunye nookhokho baseBelgium (malunga no-1 kwabangama-3 000), banokuchaphazeleka. Ezinye iziphumo eziphezulu zeziphumo zifunyenwe kwiBedouins e-Kuwait (1 kwi-3,500) kunye namaNdiya aseGujarati (1 kwi-1,300).
La manani anamaxabiso aphezulu aphetheyo, kunye nawuphi na ophakathi kwe-50 ukuya kweyesi-1 kwi-18 abantu abathwele ikopi yamagciwane okungafanelekanga. Nangona la mazinga okukhula, le meko inokuchaphazela nayiphi na imvelaphi yenkcubeko, kunye nabafana bobabini.
Iimpawu
I-Meckel-Gruber syndrome yaziwa ngokubangela ukukhubazeka okwenyama, kuquka:
- Indawo enkulu epholileyo (i-fontanel), evumela ezinye iingqondo kunye nomsila wamanzi omgudu ukukhupha (encephalocele)
- Iintsilelo zeentliziyo
- Iintso ezinkulu zizaliswe ngama-cyst (ii-polycystic kidneys)
- Iminwe eyongezelelweyo okanye iiywane ezongezelelweyo (i- polydactyly )
- Ukuqhekeza kwesibindi (isibindi se-fibrosis)
- Uphuhliso olungapheliyo lomphunga (i-pulmonary hypoplasia)
- Umlomo we-Cleft kunye ne-cleft palate
- Ukungaqhelekanga komzimba
Izintso zeCystic zibonakalisa uphawu oluqhelekileyo, olulandelwa yi-polydactyly. Uninzi lweMeckel-Gruber kubulawa ngenxa ye-hypoplasia ye-pulmonary, uphuhliso olungaphelelanga lomphunga.
Ukuxilongwa
Iintsana ezine-Meckel-Gruber syndrome ziyakwazi ukuxilongwa ngokusekelwe ekubonakaleni kwazo ekuzalweni, okanye nge-ultrasound ngaphambi kokuzalwa. Uninzi lweziganeko ezixilongwa nge-ultrasound ziyafumaneka kwi-trimester yesibini. Nangona kunjalo, iteknoloji enekhono inokukwazi ukuchonga imeko ngexesha lekota yokuqala. Uhlalutyo lwe-Chromosome, mhlawumbi ngokusebenzisa i-chorionic sampling okanye i-amniocentesis, inokwenziwa ukulawula i- Trisomy 13 , imeko efana neyobulalayo eneempawu ezifanayo.
Unyango
Ngelishwa, akukho unyango lwe-Meckel-Gruber syndrome ngenxa yokuba imiphunga engaphantsi kwakhayo kunye neentso ezingavamile azikwazi ukuxhasa ubomi. Isimo sinamazinga okufa kwabantu abangama-100 kwiintsuku zokuzalwa.
Ukuba i-Meckel-Gruber syndrome ifunyanwa ngexesha lokukhulelwa, ezinye iintsapho zinokukhetha ukuphelisa ukukhulelwa.
Imithombo:
Carter, SM (2015). I-Meckel-Gruber syndrome. eMedicine.
I-NIH Genetics Reference Reference. IMeckel Syndrome (2016)