Matenda a Meckel-Gruber - omwe amatchedwanso dysencephalia splanchnocystica, Matenda a Meckel, ndi Gruber syndrome - ndi matenda a chibadwa omwe amachititsa zofooka zambiri za thupi. Chifukwa cha zofooka zazikuluzi, awo omwe ali ndi matenda a Meckel amafa kapenanso atangobereka kumene.
Genetic Mutations
Matenda a Meckel akugwirizanitsidwa ndi kusintha kwa mitundu imodzi mwa majeremusi asanu ndi atatu.
Kusintha kwazomwema m'mabuku asanu ndi atatu awa a ma jeni amavuta pafupifupi 75 peresenti ya milandu ya Meckel-Gruber. Zina 25 peresenti zimayambitsidwa ndi kusintha kusinthasintha.
Kuti mwana akhale ndi matenda a Meckel-Gruber, makolo onse awiri ayenera kunyamula makope a jini lolakwika. Ngati makolo onse awiri ali ndi kachilombo kolakwika, pali 25 peresenti kuti mwana wawo akhale ndi vutoli. Pali mwayi wa 50 peresenti kuti mwana wawo adzalandira jekeseni imodzi. Ngati mwanayo adzalandira jekeseni imodzi, adzalandira chithandizo. Sadzakhala ndi chikhalidwe chawo.
Kukula
Chiŵerengero cha chiŵerengero cha matenda a Meckel-Gruber chimasiyana ndi 1 pa 13,250 mpaka 1 pa 140,000 kubadwa kwapakati. Kafukufuku wapeza kuti anthu ena, monga a chi Finnish (1 pa 9,000 anthu) ndi makolo a ku Belgium (pafupifupi 1 mwa anthu 3,000), amatha kukhudza. Zina zapamwamba zakhala zikupezeka pakati pa a Bedouin ku Kuwait (1 pa 3,500) komanso pakati pa Amwenye achi Gujarati (1 mwa 1,300).
Anthuwa amakhalanso ndi ndalama zambiri zothandizira, ndipo paliponse palipakati pa 1 pakati pa 50 ndi 1 pa 18 aliwonse omwe amanyamula zilembo zopanda pake. Ngakhale kuti chiwerengerochi chikufala, chikhalidwechi chingakhudze mtundu uliwonse, komanso amuna ndi akazi okhaokha.
Zizindikiro
Matenda a Meckel-Gruber amadziwika chifukwa amachititsa zolakwika zinazake, kuphatikizapo:
- Chigawo chachikulu choyambirira (fontanel), chomwe chimalola ubongo ndi mvula yamkati kumthamangira (encephalocele)
- Ziphuphu za mtima
- Impso zazikulu zodzala ndi cysts (polycystic impso)
- Zina kapena zala zazing'ono ( polydactyly )
- Chiwindi cha chiwindi (chiwindi fibrosis)
- Chitukuko chosakwanira cha mapapo (pulmonary hypoplasia)
- Kusungunuka mlomo ndi chotseketsa palate
- Kugonana kwachibadwa
Impso zamaliseche ndiwo chizindikiro chofala kwambiri, chimatsatiridwa ndi mitundu yambiri. Mavuto ambiri a Meckel-Gruber amachokera ku hypoplasia ya pulmona, chitukuko chosakwanira cha mapapo.
Kudziwa
Ana omwe ali ndi matenda a Meckel-Gruber amatha kupezeka chifukwa cha maonekedwe awo atabadwa, kapena ndi ultrasound asanabadwe. Matenda ambiri omwe amapezeka kupyolera mu ultrasound amapezeka mu trimester yachiwiri. Komabe, katswiri waluso amatha kuzindikira vutoli m'nthawi ya trimester yoyamba. Kusanthula kwa chromosome, kaya kupyolera mu chorionic villus sampling kapena amniocentesis, zikhoza kuchitidwa kuti tipewe Trisomy 13 , pafupifupi matenda omwe ali nawo omwe ali ndi zizindikiro zofanana.
Chithandizo
Mwamwayi, palibe chithandizo cha matenda a Meckel-Gruber chifukwa mapapu osatetezeka a ana ndi impso zosalongosoka sangathe kuthandiza moyo. Matendawa ali ndi chiwerengero cha anthu oposa 100 pa tsiku la kubadwa.
Ngati matenda a Meckel-Gruber amapezeka panthawi yomwe ali ndi pakati, mabanja ena angasankhe kuthetsa mimba.
Zotsatira:
Carter, SM (2015). Matenda a Meckel-Gruber. eMedicine.
Ndondomeko Yoyamba Kwambiri ya NIH. Meckel Syndrome (2016)