I-Achondroplasia empeleni iwuhlobo olukhethekile lwe-chondrodyplasia, kungaba uhlobo lokuncipha kanye / noma ukunwetshwa kwezitho. Lesi sifo sibonakala ngokuthi:

- i-rhizomelia: ethinta impande yemilenze, ithanga noma izingalo;

i-hyper-lordosis: ukugqama kwama-curvatures e-dorsal;

- i-brachydactyly: usayizi omncane ngokungavamile we-phalanges yeminwe kanye / noma izinzwane;

i-macrocephaly: usayizi omkhulu ngokungavamile wepherimitha ye-cranial;

- hypoplasia: ukukhula ukubambezeleka kwezicubu kanye / noma isitho.

Ngokwe-Ethnological, i-achondroplasia isho "ngaphandle kokwakhiwa kwe-cartilage". Lolu qwanga luyizicubu eziqinile kodwa eziguquguqukayo ezakha ingxenye yokwakheka kwamathambo. Noma kunjalo, kule pathology, akuwona umbuzo wokwakheka okubi ezingeni le-cartilage kodwa inkinga ku-ossification (ukwakheka kwamathambo). Lokhu kusebenza kakhulu emathanjeni amade, njengezingalo nemilenze.

Izifundo ezithintwe yi-achondroplasia zifakazela ukwakhiwa okuncane. Isilinganiso sobude bendoda ene-achondroplasia singu-1,31 m kanti okowesifazane ogulayo singu-1,24 m.

Izici ezingavamile zalesi sifo zibangela usayizi omkhulu wesiqu, kodwa usayizi omncane ngokungavamile wezingalo nemilenze. Ngokuphambene, i-macrocephaly ngokuvamile ihlotshaniswa, okuchazwa ukukhuliswa komjikelezo we-cranial, ikakhulukazi ebunzini. Iminwe yalezi ziguli ivamise ukuba mincane ngokuhlukana okubonakalayo komunwe ophakathi, okuholela ekumeni kwesandla esinezintathu.

Kunezinkinga ezithile zezempilo ezingahlotshaniswa ne-achondroplasia. Lokhu ikakhulukazi esimweni sokuphazamiseka kokuphefumula okuhambisana nokuphefumula okubonakala kunciphisa ijubane ngezikhathi ze-apnea. Ngaphezu kwalokho, ukukhuluphala kanye nezifo ezindlebeni kuvame ukuhlotshaniswa nesifo. Izinkinga ze-postural nazo ziyabonakala (hyper-lordosis).

Izinkinga ezingenzeka zingavela, njenge-spinal stenosis, noma ukuncipha komsele womgogodla. Lokhu kubangela ukucindezelwa komgogodla. Lezi zinkinga ngokuvamile ziyizibonakaliso zobuhlungu, ubuthakathaka emilenzeni kanye nokuzwakalisa.

Ngemvamisa encane, ukubukeka kwe-hydrocephalus (okungavamile kwe-neurological okungavamile) kungenzeka. (2)

Kuyisifo esiyivelakancane, ukusabalala kwaso (inombolo yezigameko kubantu esinikeziwe ngesikhathi esinikeziwe) kube 1 kwabangu-15 abazalwa. (000)

Ukubonakaliswa komtholampilo kwe-achondroplasia kubonakaliswa ngesikhathi sokuzalwa:

- usayizi omncane ngokungavamile wemilenze ene-rhizomelia (ukulimala kwezimpande zemilenze);

- usayizi omkhulu ngokungavamile we-trunk;

- usayizi omkhulu ngokungavamile wepherimitha ye-cranial: macrocephaly;

- hypoplasia: ukukhula ukubambezeleka kwezicubu kanye / noma isitho.

Ukubambezeleka kwamakhono emoto nakho kubalulekile ku-pathology.

Eminye imiphumela ingase ihlotshaniswe, njenge-apnea yokulala, izifo zendlebe eziphindaphindiwe, izinkinga zokuzwa, ukunqwabelana kwamazinyo, i-thoracolumbar kyphosis (ukuguqulwa komgogodla).

Ezimweni ezinzima kakhulu zesifo, ukucindezelwa komgogodla kungahlotshaniswa nakho okubangela izimo ze-apnea, ukubambezeleka ekuthuthukisweni kanye nezimpawu ze-pyramidal (konke ukuphazamiseka kwamakhono emoto). Ngaphezu kwalokho, i-hydrocephalus nayo iyabonakala eholela ekushoda kwezinzwa kanye nesifo senhliziyo.

Abantu abanalesi sifo banobude obuyi-1,31 m kwabesilisa no-1,24 m kwabesifazane.

Ngaphezu kwalokho, ukukhuluphala kutholakala kabanzi kulezi ziguli. (1)

Umsuka we-achondroplasia ufuzo.

Ngempela, ukuthuthukiswa kwalesi sifo kubangela ukuguqulwa kwezakhi zofuzo ze-FGFR3. Lesi sakhi sofuzo senza ukwakheka kweprotheyini ehilelekile ekuthuthukisweni nasekulawuleni izicubu zamathambo nobuchopho.

Kukhona ukuguqulwa okubili okuqondile kulolu fuzo. Ngokusho kososayensi, lezi zinguquko okukhulunywa ngazo zenza amaprotheni asebenze kakhulu, aphazamise ukukhula kwamathambo futhi aholele ekuwohlokeni kwamathambo. (2)

Lesi sifo sisakazwa ngenqubo ebusayo ye-autosomal. Noma, ukuthi ikhophi eyodwa kuphela kwamabili ofuzo oluguquliwe lwentshisekelo yanele ukuthi isihloko sithuthukise i-phenotype egulayo ehlobene. Iziguli ezine-achondroplasia zibe zizuza ikhophi yofuzo oluguquliwe lwe-FGFR3 komunye wabazali ababili abagulayo.

Ngale ndlela yokudlulisela, ngakho-ke kukhona ingozi engu-50% yokudlulisela lesi sifo enzalweni. (1)

Abantu abathola ifa womabili amakhophi aguquliwe ofuzo lwentshisekelo bahlakulela uhlobo olunzima lwesifo oluholela ekunciphiseni kwezitho kanye namathambo. Lezi ziguli zivame ukuzalwa ngaphambi kwesikhathi futhi zishone ngokushesha ngemva kokuzalwa ngenxa yokwehluleka ukuphefumula. (2)

Izingozi zesifo ziwufuzo.

Eqinisweni, lesi sifo sidluliselwa ngokudluliswa okunamandla kwe-autosomal okuhlobene nofuzo lwe-FGFR3.

Lesi simiso sokudlulisela sibonisa ukuthi ukuba khona okuyingqayizivele kwekhophi eyodwa yofuzo oluguquliwe kwanele ekuthuthukiseni isifo.

Ngalo mqondo, umuntu onomzali oyedwa wabazali bakhe ababili abaphethwe yile pathology unengozi engu-50% yokuthola isakhi sofuzo esiguquliwe, ngaleyo ndlela aphinde abe nesifo.

Ukuxilongwa kwesifo kuqala kukho konke okuhlukile. Ngempela, ngenxa yezici ezihlukahlukene zomzimba ezihambisanayo: i-rhizomelia, i-hyper-lordosis, i-brachydactyly, i-macrocephaly, i-hypoplasia, njll udokotela angakwazi ukucabangela lesi sifo esihlokweni.

Okuhlotshaniswa nalokhu kuxilongwa kokuqala, ukuhlolwa kofuzo kwenza kube nokwenzeka ukugqamisa ukuba khona okungenzeka kofuzo lwe-FGFR3 oluguquliwe.

Ukwelashwa kwalesi sifo kuqala ngokuvimbela okulandelayo. Lokhu kusiza ukuvimbela ukuthuthukiswa kwezinkinga, ezingase zibulale, ezigulini ezine-achondroplasia.

Ukuhlinzwa kwe-hydrocephalus kuvame ukudingeka ezinsaneni ezisanda kuzalwa. Ngaphezu kwalokho, ezinye izinqubo zokuhlinzwa zingenziwa ukuze kwandiswe izitho zomzimba.

Izifo ezindlebeni, izifo ezindlebeni, izinkinga zokuzwa, njll. zelashwa ngemithi eyanele.

Ukuchaza izifundo zokwelapha inkulumo kungaba usizo ezifundweni ezithile ezigulayo.

I-Adenotonsillectomy (ukususwa kwamathoni kanye ne-adenoids) ingenziwa ekwelapheni i-apnea yokulala.

Ukwengezwa kulokhu kwelashwa nokuhlinzwa, ukuqapha ukudla okunomsoco kanye nokudla ngokuvamile kunconywa ezinganeni ezigulayo.

Ubude besikhathi sokuphila komuntu ogulayo singaphansi kancane kunesikhathi sokuphila kwabantu abaningi. Ngaphezu kwalokho, ukuthuthukiswa kwezinkinga, ikakhulukazi zenhliziyo, kungaba nemiphumela emibi ekuqaguleni okubalulekile kweziguli. (1)