I-Hydrolethalus Syndrome kanye Nezifo Zokuzalwa

Iqembu Elibulalayo Lokuhluleka Ukuzalwa

I-Hydrolethalus syndrome iyinhlangano ebulalayo yokukhubazeka okuzalwa okubangelwa isifo sofuzo. I-Hydrolethalus syndrome yatholwa lapho abacwaningi befunda esinye isifo, okuthiwa i-Meckel syndrome, eFinland. Bathole amacala angu-56 e-hydrolethalus syndrome eFinland, okusho okungenani izingane eziyi-20 000 lapho. Kube okungenani amanye ama-5 amacala abikezelwe e-hydrolethalus syndrome eyanyatheliswa ezincwadini zezokwelapha emhlabeni wonke.

Ukusebenzisa izingane zaseFinland nemindeni yabo, abacwaningi bathola ukuguquka kwezakhi zofuzo eziphethwe yi-hydrolethalus syndrome kubantu baseFinland. Isakhi , okuthiwa yi-HYLS-1, sise-chromosome 11. Ucwaningo luphakamisa ukuthi ukuguqulwa kwezakhi zofuzo kuzuzwa njengefa ngephethini ephindaphindiwe ye-autosomal.

Izimpawu ze-Hydrolethalus Syndrome

I-Hydrolethalus syndrome iqukethe iqembu leziphene ezihlukile zokuzalwa, kufaka phakathi:

• I-hydrocephalus enamandla (uketshezi ngokweqile ebuchosheni)
• Umhlathi omncane ophansi kakhulu (obizwa ngokuthi i-micrognathia)
• I-Cleft lip noma i-cleft palate
• Isistimu yokuphefumula engalungile
• Izinkinga zenhliziyo ezibangelwa yi-Congenital
• Iminwe eyengeziwe kanye nezinzwani (ezibizwa ngokuthi i-polydactyly), ikakhulukazi izinzwane ezinkulu eziphindiwe
• Ukuhlukunyezwa kwengqondo, kufaka phakathi izakhiwo ezingekho

Ukuxilongwa kwe-Hydrolethalus Syndrome

Izingane eziningi ezine-hydrolethalus syndrome ziyaqashelwa ngaphambi kokuzalwa nge-ultrasound ngaphambi kokubeletha. I-hydrocephalus nokuhlukunyezwa kwengqondo kusikisela ukuthi ukuxilongwa.

Ukuhlolisisa i-fetus nge-ultrasound, noma ingane ekuzalweni, kuyadingeka ukulawula izifo ezifanayo ezifana ne- Meckel syndrome , i- Trisomy 13 , noma i-Smith-Lemli-Opitz syndrome.

I-Outlook

Ngokuvamile ingane ene-hydrolethalus syndrome izalwa ngaphambi kwesikhathi. Abantwana abangaba ngu-70% abane-syndrome bazalwa. Labo abazalwa bephila abahlali isikhathi eside.

_Imithombo

_{Tiller, George E .. "Hydrolethalus Syndrome 1." I-OMIM Database. 09 Jan 2007. NCBI.}

_{Salonen, R., no R. R. Herva. "Hydrolethalus syndrome." Journal of Medical Genetics 27 (1990): 756-759. Phrinta.}