Russell-Silver chirwere: zvinokonzera, zviratidzo, kurapwa

mushonga Modern anoziva zvakawanda zvirwere. Vamwe vavo vane runako zvakanaka pamusoro zvinokonzera uye kurapwa vemimwe masayendisiti kushanda pasina. Part vawana zvirwere, nepo vamwe vari tinoberekwa. Mumwe chirwere akadaro vachiberekwa Russell-Silver syndrome.

Zvakakurukurwa chirwere

Pane dzimwe dzakakurumbira okuremekedza: Silver-Russell dwarfism, SSR.

Russell A. uye H. K. Silver - pediatricians, vanga vachidzidza pamuviri zvokukura sokunonoka.

Russell-Silver chirwere chinhu vachiberekwa chirwere. Its chikuru chepfungwa ndiyo kunonoka kwomuviri panguva pamuviri, kunyanya kuvhiringidzwa paumbwe mwana marangwanda. Mune ramangwana, pangava paya pane yokupedzisira fontanelle.

VaBennett nhaka vachiri kuzivikanwa, kazhinji pane hurongwa.

Hosha rinowanikwa mune mumwe munhu pa 30 000. The bonde kuva hosha haina kukanganiswa.

Zvinokonzera kuti urwere pakati Russell-Silver

The chikuru chinokonzera chirwere zvikuru kutyorwa pachiyero genetics. Uye chimiro nhaka kwete nguva nenguva kana systemic.

Most vanowanzotambura kubva chromosome 7 (10% nyaya), 11, 15, 17, 18. Zviri okutodza izvi uye vane basa kukura kwevanhu. Kazhinji ichi imhaka yokuti mwana nhaka makopi maviri chromosome kubva mai. Izvi anonzi rwaamai uniparental disomy.

External zviratidzo chirwere

Pakaberekwa mwana chete urwere pakati Russell-Silver ane panzvimbo diki uremu, kazhinji haana kupfuura 2500 d kunyange pamuviri anonzi renguva rokuti,. Length pamwe vanenge 45 cm. With zera, dambudziko harisi kugadziriswa uye kukura retardation aona vanhu vakuru (vakadzi vasingamutswi masendimita anopfuura 150 nevanhu zvishoma kupfuura 150 masendimita yei). Zvisinei, uremu kunoenderana zvizere zera, mune zvimwe zviitiko kunyange kupfuura dzose.

Uchisangana kuchinja uye urogenital ezvinhu, somuenzaniso, pane cryptorchidism (chirwere umo manhu zvisina riri munzvimbo dzavo), hypospadias (urethra anovhura atypical kuti nharaunda iyi), hypoplasia pakati yemukomana uye scrotum (underdevelopment).

Externally, Russell-Silver chirwere chiri vakacherechedzawo. Akaratidza mumuviri asymmetry. Zvinokanganisawo chiso uye hunde, uye urefu makumbo uye maoko.

Zvinokanganisawo Russell-Silver syndrome (pakurapa chirwere chinogona kuwanikwa munyaya), uye kumeso. Part of dehenya, inova uropi, akawedzera tichienzanisa nechemberi kwayo, uye kuwedzera zvakajeka disproportionate. Face chimiro chakafanana netriangle umo convex yapahuma, uye hukuru pamusoro mandible uye muromo wacho yekudyidzana ipfupi. Izvi zvinonzi psevdogidrotsefaliya. Lips zvakasimba uye makona kutura zvishoma (migumisiro "kabhu muromo"). Denga kumusoro, mune zvimwe zviitiko zvingava akatsemuka. Nzeve protruded kakawanda.

Pakati rinotevera kwokunze zviratidzo ndiwo:

• kutyora paumbwe subcutaneous mafuta;
• rakamanikana bhokisi;
• lordosis ari lumbar munharaunda (the convexity pamusoro musana mberi);
• curvature duku nomunwe.

Related zvirwere zvomukati

Kuwedzera zvokunze vachivavhiringidza, kazhinji akacherechedza uye dzomunyika zvinetso muviri. Russell-Silver syndrome (zviratidzo chokuita zvakanaka chimiro, kunorondedzerwa kumusoro) sei itsvo nokuda kwavo mugari inotungamirwa (chidhongi chimiro, Kuwedzera renal chiuno, acidosis tubules).

Varwere, pasinei nemamiriro avo pabonde hunhu mangwanani kuyaruka. Muna 30% nyaya rinotanga nemakore anenge 6 makore. Izvi chokuita chokwadi kuti pane gonadotropin ovarian dzishande zvakananga (kurara mahormone mari zvikuru rikakudzwa).

Asi ruzivo zvizere zvabatwa.

Russell-Silver urwere: kuongorora chirwere

Hosha iri chirwere mu muduku. chisarudzo kwakadaro kunoitwa wevana, takatarisa mwana anorwara. Zvisinei, kuwedzera kune zvatinosiita zvaanorumbidza yaitwa, uye siyana rabhoritari nemiedzo uye miedzo:

1. Kuziva chechetere yomuropa. Kakawanda vana vari kubatwa nechirwere "Russell-Silver chirwere", vane yakaderera ropa shuga yomuropa.
2. Achiedza kuti chromosomal abnormalities. Kazhinji, matambudziko aya anowanikwa.
3. Kutsunga uwandu kukura kemikari. In chirwere ichi pane kushayikwa.
4. Kuongorora paumbwe marangwanda. Izvi zvaida kuti kubvisa zvachose mamwe mamiriro, izvo dzimwe nguva anogona kupa yakanaka venhema mugumisiro.

Features kurapwa

Nokutonga chikuru kurapwa: nenguva kuongorora chirwere. Kana mukasandizivisa nenguva, chiremba wako anogona rirasike uye kuita hydrocephalus kurapwa, asi haina kuva chirwere muvana izvi.

Kazhinji, varwere zvakadaro basa kugamuchira kukura kemikari mune muenzaniso chaiwo, izvo kuva chiremba.

Uyewo, kakawanda kushandiswa uye yokuwedzera nzira:

• mumuviri kurapa, izvo rinotarisira kuwedzera tsandanyama;
• chinokosha dzidzo.

Nokufamba kurapwa panguva imwe chete atore vanachiremba mashoma:

• Chiremba-geneticist anokwanisa kuona chirwere panguva pakutanga kwayo chaizvo;
• Dietitian kana gastroenterologist, chikuru basa iri kutanga kudya chaiyo ndehwokuti kuwedzera kukura;
• endocrinologist, ndiani anoita kukura kemikari;
• kwepfungwa.

Kuziva efficacy ari kurapwa zvinogona kuwedzera kukura unodiwa. Kana zvakanaka yakagadzirwa zano pagore kurapwa rokutanga anogona kuzadzisa kunoguma 8 cm.