Russell-Silver syndrome: take, tohu, maimoatanga

rongoā Modern mohio te rota o mate. He tino pai etahi o ratou, i runga i nga take me maimoatanga o ētahi atu rōpū o pūtaiao mahi i roto i te noa. riro wāhanga mate, i he tūturu ētahi atu. Ko tētahi taua mate he congenital syndrome Russell-Silver.

Āhuatanga o te mate

He atu taitara rongonui: Silver-Russell dwarfism, SSR.

Russell A. ko H. K. Silver - pediatricians, e kua ako i te takaroa whanaketanga prenatal.

Russell-Silver syndrome ko te mate congenital. Ko tōna āhuatanga matua ko te roa i roto i te whanaketanga ā-tinana i roto i hapūtanga, i roto i ngā, takahia te hanganga o te kōhiwi o te tamaiti. I roto i te heke mai, i reira kia kia muri atu i te fontanelle kati.

E tonu Take o tupu unknown, i roto i te nuinga o te wā i reira ko tetahi pūnaha.

Puta ana te mate i roto i te tangata kotahi ia 30 000. Ko te sex o te whakawhanake i te mate e kore e pāngia.

Ko te take o te syndrome o Russell-Silver

Ko te take matua o te mate, ko te tino maumaui i te taumata o iranga. A e kore te mea o te hautaka pūnahanaha ranei te ahua o te tupu.

mamae te nuinga maha i pūira 7 (10% o te wā), 11, 15, 17, 18. Ko reira enei pūira me he kawenga mō te tupu tangata. I roto i te nuinga o te wā he tika ki te meka e riro te tamaiti e rua ngā kape o te pūira i te whaea tenei. huaina ana tēnei pānga ko te disomy uniparental whaea.

tohu waho o te mate

I te whanautanga o te tamaiti ki te syndrome o Russell-hiriwa kua he taimaha kaua iti, te tikanga e kore neke atu i 2500 g, ahakoa whakaaro hapū te wā-tonu. Te roa ki pā ana ki 45 cm. Ki te tau, e kore te te raruraru whakatau me te retardation tupu kitea i roto i ngā pakeke (kore e te wahine ara neke atu i te 150 cm i roto i nga tangata paku neke atu i te 150 cm). Heoi, he tino hāngai ki tau te taimaha, i roto i ētahi wā noa ki runga ake i noa.

Pangia huringa me te pūnaha urogenital, hei tauira, i reira he cryptorchidism (he mate i roto i nei i kore e te i romia, kei roto i o ratou wahi), hypospadias (taiawa mimi oroko mohiotia hoki tenei rohe), hypoplasia o te ure me te Tunaroa (underdevelopment).

Waho, Kei te kitea ano hoki Russell-Silver syndrome. Ua faaite ia i roto i te karawhiti tinana. pānga te reira i te mata, me te kātua, me te roa o nga waewae, me ringa.

Pānga ki Russell-Silver syndrome (Ka taea te kitea maimoatanga o te mate i roto i te tuhinga), me i te mata. Wāhanga o te angaanga, e te mea roro, nui haere i roto i rite ki te wahi ki mua o taua mea, a ka he mārama taikaha te hua. āhua mata rite te tapatoru i roto i nei te rae ohu nei, me nga rahi o te kauwae me te mangai kei te tino heke. huaina ana tēnei ko te psevdogidrotsefaliya. Ngutu kikī me koki paku tuku iho (te pānga o "mangai carp"). He nui te rangi, i roto i ētahi wā kia mau ai ki te kapiti. Taringa protruded i roto i nuinga o te wā.

I roto i te tohu e whai waho ko:

• takahi o te hanganga o te ngako subcutaneous;
• pouaka kuiti;
• lordosis i roto i te rohe lumbar (te convexity o te tuaiwi whakamua);
• curvature o te maihao iti.

mate e pā ana o whekau

I tua atu ki nga whakaoho waho, kei te maha kitea me nga raruraru ā o te tinana. Russell-Silver syndrome (tohu e pā ana ki ahua waimaero, rite tautuhi i runga) pā i te whatukuhu e tika ana ki to ratou hanganga kōhikohiko (hūhoiho āhua, roha o papatoiake tākihi, tubules acidosis).

No te tūroro, ahakoa o ratou āhuatanga sex o te tino wawe. I roto i te 30% o te wā tīmata i te tau o e pā ana ki 6 tau. Kei te pā hāngai ana tēnei ki te meka i reira he he whakaongaonga ovarian gonadotropin (hormones fakasekisualé nui tino whakanuia).

Otira kei te tino puritia maramarama.

Russell-Silver syndrome: tātaritanga

pāngia te mate i roto i kōhungahunga. hanga he whakatau taua e te tākuta tamariki, te mātakitaki i te tamaiti mate. Heoi, i roto i te tua ki te kitenga mua e kawea ki waho, me ngā whakamātautau taiwhanga me whakamātautau:

1. Whakatau i te taumata o te huka toto. Tino maha e te pāngia tamariki ki "syndrome Russell-Silver", i raro taumata kūhuka toto.
2. Whakamatautau hoki abnormalities pūira. I roto i te nuinga o te wā, e kitea enei raruraru.
3. Whakatau i o moni o taiki tupu. I roto i tenei mate i reira ko te hē.
4. Examination o hanganga o te tuahiwi. hiahiatia ana tēnei i roto i te tikanga ki te tino faaore tikanga atu, i roto i ētahi wā kia hoatu he hua pai teka.

Āhuatanga o te maimoatanga

Ko te tikanga matua o te maimoatanga: tātaritanga wā. Ki te kore e hanga e koe taua mea i roto i te wa, kia haere koutou tākuta kotiti, ka mahi maimoatanga wairoro, engari e kore e whai te reira i te mate i roto i enei tamariki.

I roto i te nuinga o te wā, pērā i tūroro whakaritea ki te farii i taiki i roto i te tauira motuhake, kei te whakawhanake i te rata.

I tua atu, i te tikanga maha whakamahia me atu:

• therapy tinana, e whai ana ki te whakapai ake i te uaua;
• mātauranga motuhake.

I roto i te akoranga o te maimoatanga i te wa taua tango i te torutoru tohunga:

• rata-geneticist e he taea ki te kite i te mate i tona timatanga rawa;
• Mātanga kai gastroenterologist ranei, te mahi matua, ko te ki te whakawhanake i tētahi kai motuhake e whai ana ki te whakapiki ake i tupu;
• tafe'anga, e whakaturia taiki tupu;
• hinengaro.

Hei whakatau i te miramira o te maimoatanga e taea e ki ake i te tere tupu. A, no te tika hangaia kaupapa i roto i te tuatahi o nga tau o te maimoatanga e taea te whakatutuki i ngā hua i roto i te 8 cm.