Syndrome Russell-Silver: oonobangela, iimpawu, unyango

yesilungu uyazi ezininzi izifo. Ezinye zazo zi- okulungileyo, phezu unobangela kunye nonyango kwabo namanye amaqela izazinzulu zokusebenza lilize. Icandelo efumaneke izifo, ngoxa abanye azalwa. Esinye isifo loo naso Russell-Silver syndrome.

Iimpawu zesi sifo

Kukho nezinye izihloko ezithandwayo: Silver-uRussell komzimba, SSR.

Russell A. and H. K. Silver - oogqirha babantwana, abaye bafunda ukulibaziseka siswini.

Russell-Silver syndrome sisifo naso. osemqoka yalo esentloko kukuba ulibaziseko kuphuhliso ngokwasemzimbeni ngexesha lokukhulelwa, ingakumbi, yephule ukuyilwa amathambo yomntwana. Kwixa elizayo, ukuze kamva ngaphezu fontanelle wokuvala apho.

Oonobangela yelifa nangoku ayaziwa, kwiimeko ezininzi kukho inkqubo ethile.

Isifo kwenzeka xa umntu ngamnye 30 000. sex yokuphuhlisa esi sifo ayiphazamiseki.

Izinto ezibangela le syndrome ka uRussell-Silver

Esona sizathu sokuba esi sifo kakhulu ukunyhashwa kwinqanaba yemfuza. Kwaye uhlobo ilifa kungekhona ngamaxesha athile okanye lwenkqubo.

Amaninzi ubunzima ukusuka chromosome-7 (10% amatyala), 11, 15, 17, 18. Ngaba bathandi zofuzo kwaye banoxanduva akhule. Kwiimeko ezininzi oku kubangelwa kukuba umntwana ilifa iikopi ezimbini kukho chromosome ukusuka kumama. Le ndlela ibizwa ngokuba disomy koomama uniparental.

Iimpawu lwangaphandle sifo

Xa ukuzalwa komntwana kunye syndrome ka uRussell-Silver enobunzima kunokuba encinane, ngokuqhelekileyo hayi ngaphezulu kwe 2500 grams, nangona ukukhulelwa kugqalwa ngokupheleleyo-term. Ubude kunye cm malunga nama-45. Ngokuhamba kweminyaka, le ngxaki zisonjululiwe kwaye abazizidalwa ngokukhula waphawula abadala (abasetyhini abaze bavuke ngaphezulu kwe-150 cm amadoda ngaphezulu kwe-150 cm). Nangona kunjalo, ubunzima engqinelana ngokupheleleyo ubudala, kwezinye iimeko ngaphezulu kunesiqhelo kude.

Yenzelwa utshintsho kunye nenkqubo enzala, umzekelo, kukho cryptorchidism (a Isifo apho amasende na zifumaneka kwiindawo zazo), hypospadias (urethra ivula Nedlac kule ndawo), hypoplasia ye lobudoda kunye isingxobo samatyhalarha (baswele).

Ngaphandle, uRussell-Silver syndrome nako ulandelwe. Uvakalise ngo asymmetry emzimbeni. Ichaphazela ubuso kunye ibhuthi, kunye nobude imilenze neengalo.

Ichaphazela Russell-Silver syndrome (unyango kwesi sifo inokufumaneka kwinqaku), kwaye ebusweni. Inxalenye lukakayi, nto leyo ingqondo, lanyuka xa kuthelekiswa inxalenye phambi kwayo, kwaye kwanda omkhulu ngokucacileyo. imilo Ubuso kufana unxantathu apho ebunzi khaxa, kwaye ubukhulu ye mandible kunye umlomo liyehla kakhulu. Oku kubizwa psevdogidrotsefaliya. Imilebe tight kunye neekona bazifinyeza kancinane (nefuthe "zeCARP umlomo"). Isibhakabhaka phezulu, kwezinye iimeko kusenokuba emfanteni. Iindlebe protruded kwiimeko ezininzi.

Phakathi iimpawu zangaphandle esihamba kunye nale setyhula:

• ephula ukuyilwa amafutha ongama;
• esifubeni elimxinwa;
• lordosis kummandla empontshwa (i convexity yomqolo phambili);
• esime ngomnwe encinane.

nezifo ezinxulumene izitho zangaphakathi

Ukongeza uqhushululu yangaphandle, badla eziqwalaselwa iingxaki angaphakathi omzimba. Russell-Silver syndrome (iimpawu ezinxulumene imbonakalo kakuhle, njengoko kuchaziwe apha ngasentla) kuchaphazela izintso ngenxa nokudaleka engavumelekanga (imilo intsimbi yehashe, ukwandiswa isinqe kwezintso, asidi tubules).

Kwizigulane, kungakhathaliseki uphawu lwabo ngesondo lokufikisa kwangoko. Ngowe-30% amatyala iqala eneminyaka engama-6. Oku kunxulumene ngqo yokuba kukho nqgo gonadotropin ovarian (iihomoni ngokwesondo isixa kakhulu likhulu).

Kodwa intelligence igcinwe ngokupheleleyo.

Russell-Silver syndrome: isifo

Esi sifo olufunyanwa kubantwana abancinci. Eso sigqibo senziwe wabantwana, ukubukela umntwana egulayo. Nakuba kunjalo, ukongeza imigqaliselo yesiqhelo iyenziwa, kwaye ezahlukeneyo iimvavanyo zaselebhu neemvavanyo:

1. Ukumisela inqanaba iswekile yegazi. Amaxesha amaninzi abantwana kokufumanisa ukuba with "Russell-Silver syndrome", kuba igazi amanqanaba glucose asezantsi.
2. Luyaqhubeka kuba nako chromosomal. Kwiimeko ezininzi, ezi ngxaki zifumaneka.
3. Ukumiselwa izixa hormone okukhula. Kule sifo kukho intswelo.
4. Uviwo lwe ukubunjwa amathambo. Oku efunekayo ukuze kupheliswe ngokupheleleyo imiqathango eyongezelelweyo, leyo kwezinye iimeko aninike result okungamanga.

Iimpawu zonyango

Eyona ulawulo yonyango: kwesifo ngexesha. Ukuba ke anithanga nindazise oko kwexesha, ugqirha wakho uye balahlekile yaye wenze unyango hydrocephalus, kodwa oko akuthethi ukuba esi sifo aba bantwana.

Kwiimeko ezininzi, izigulane ezifana eyabelwe hormone yokukhula ngokomfuziselo ethile, ephuhlisa gqirha.

Ukongeza, iindlela asoloko ehamba kunye esetyenziswa kunye ezongezelelweyo:

• ukwandiswa kwendawo yokuhlala, nto leyo ijonge ukuphucula izihlunu;
• zemfundo ezizodwa.

Ekuhambeni unyango ngexesha elifanayo ukuthatha iingcali ezimbalwa:

• ugqirha-zofuzo ngubani na onako ukubona sifo kwi ekuqaleni kwayo;
• Isazi okanye gastroenterologist, umsebenzi iphambili ukuphuhlisa ukutya okhethekileyo elijonge ukukhulisa;
• endocrinologist, ngubani omisa growth hormone;
• kwengqondo.

Ukuze ubone ukusebenza unyango kunokuba ukwandisa izinga lokukhula. Xa yenzelwe kakuhle inkqubo kunyaka wokuqala unyango nga ukufezekisa iziphumo 8 cm.