Russell-Silver syndrome: zimayambitsa, zizindikiro, chithandizo

mankhwala amakono amadziwa zambiri za matenda. Ena a iwo ali abwino, pa zimayambitsa ndi mankhwala a magulu ena asayansi ntchito pachabe. Part anapeza matenda, pamene ena mwachibadwa. matenda china kobadwa nako Russell-Silver syndrome.

Features matendawa

Pali maudindo ena otchuka: Silver-Russell dwarfism, SSR.

Russell A. ndi H. K. Silver - madokotala, amene akhala akuphunzira akalandire chithandizo kuchedwa kakulidwe.

Russell-Silver syndrome ndi matenda obadwa nawo. Mbali yake yaikulu ili Kuchedwa kukula woyembekezera, makamaka, kukanakhala kumuphwanyira mapangidwe mafupa a mwana. M'tsogolo, pangakhale pasanafike kutsekera fontanelle.

Zimayambitsa cholowa akadali osadziwika, nthawi zambiri pali dongosolo ena.

Matendawa amapezeka munthu pa 30 000. The kugonana kudwala matenda a si bwanji.

Zimayambitsa vuto la Russell-Silver

Chifukwa chachikulu cha matenda zedi kuyan'anila pa mlingo wa chibadwa. Ndipo mawonekedwe a cholowa si wa magaziniyo kapena zokhudza zonse.

Nthawi zambiri amadwala khromozomu 7 (10% milandu), 11, 15, 17, 18. Ndi DNA izi ndipo udindo wotere pa kukula anthu. Nthawi zambiri izi chifukwa chakuti mwana analandira mabuku awiri a khromozomu kuchokera kwa amake. Amenewa amatchedwa akuchikazi uniparental disomy.

zizindikiro kunja matenda

Pa kubadwa kwa mwana ndi matenda a Russell-Silver ali ndi kulemera m'malo ang'onoang'ono, kawirikawiri osapitirira 2500 ga, ngakhale kutenga mimba amaona zonse yaitali. Utali ndi 45 cm. Msinkhu, vuto si anatsimikiza ndi kukula retardation anati akuluakulu (akazi saukitsidwa masentimita oposa 150 mwa amuna zoposa pang'ono 150 cm). Komabe, kulemera amadziwa zogwirizana ndi zaka nthawi zina kuposa wabwinobwino.

Likufa kusintha ndi dongosolo urogenital, mwachitsanzo, pali cryptorchidism (a matenda amene machende si ili mu malo awo), hypospadias (mkodzo akutsegula atypical am'derali), hypoplasia kwa mbolo ndipo scrotum (underdevelopment).

Kunja, Russell-Silver syndrome ndi anatinso. Iye anafotokoza mu thupi asymmetry. Zingamvekere nkhope ndi thunthu, ndi kutalika kwa miyendo ndi manja.

Zingamvekere Russell-Silver syndrome (chithandizo cha matenda angapezeke mu nkhani), ndipo pa nkhope. Part a Chigaza, amene ubongo, kuchuluka poyerekeza ndi gawo kutsogolo kwa ilo, ndi kuwonjezeka ndi bwino akanagwiritsa. mawonekedwe nkhope akufanana kansalu imene mphumi otukukira kunja, ndi makulidwe a mandible ndi pakamwa ali kwambiri yafupika. Zimenezi zimatchedwa psevdogidrotsefaliya. Milomo mwamphamvu ndi ngodya pang'ono adatchithisira (zotsatira za "carp pakamwa"). Thambo ndi mkulu, zina zingakhale mng'aru. Makutu anatuluka nthawi zambiri.

Mwa zizindikiro pansiyi kunja ndi:

• kuphwanya mapangidwe subcutaneous mafuta;
• yopapatiza pachifuwa;
• lordosis m'dera lumbar (a convexity msana kutsogolo);
• kupindika chala chaching'ono.

matenda okhudzana a ziwalo

Kuwonjezera chisokonezo kunja, nthawi zambiri anaona ndi mavuto a mkati mwa thupi. Russell-Silver syndrome (zizindikiro kugwirizana ndi maonekedwe mkhutu, linanena pamwamba) zimakhudza impso chifukwa mapangidwe awo osasamba (horseshoe mawonekedwe, kukula kwa mafupa a chiuno aimpso, acidosis tubules).

Kwa odwala, kaya kugonana khalidwe lawo pamene akutha msinkhu msanga. Mu 30% milandu umayamba zaka pafupifupi 6 zaka. Izi mwachindunji zokhudzana ndi chakuti pali gonadotropin yamchiberekero kukondoweza (mahomoni kugonana kuchuluka kwambiri wakuzidwa).

Koma nzeru ndi anapitiriza kwathunthu.

Russell-Silver syndrome: matenda

Matendawa amawapeza ana aang'ono. chisankho otere anapangidwa ndi dokotala wa ana, kuonera mwana odwala. Komabe, kuwonjezera pa kuzipenya mwachizolowezi akutsatiridwa, ndipo zosiyanasiyana mayesero zasayansi ndi mayesero:

1. Kuona mlingo wa shuga m'magazi. Nthawi zambiri ana anandipeza ndi "Russell-Silver syndrome", ndi milingo m'munsi shuga magazi.
2. Kuyeza kuvutika chromosomal. Nthawi zambiri, mavuto amenewa akupezeka.
3. Khama la ndalama kukula timadzi. Mu matenda pali akusowa munthu.
4. Kupenda mapangidwe mafupa a. Izi ndi zofunikira kuti kwathunthu kuthetsa zikhalidwe zina, zomwe zina angapeleke wabodza zabwino.

Features mankhwala

Ulamuliro waukulu wa mankhwala: matenda yake. Ngati inu sizipanga mu nthawi, dokotala anu mwina imasochera ndi kuchita mankhwala hydrocephalus, koma alibe matenda ana awa.

Nthawi zambiri, odwala ngati anatumizidwa kulandira kukula timadzi mu ndondomeko yeniyeni, amene akutukuka dokotala.

Komanso, nthawi zambiri ntchito ndi zina njira:

• mankhwala thupi, kumene Cholinga kusintha minofu;
• maphunziro apadera.

Mu njira ya mankhwala pa nthawi yomweyo kutenga akatswiri ochepa:

• dokotala-zachibadwa amene amatha kudziwa matenda pachiyambi penipeni;
• Dietitian kapena gastroenterologist, ntchito yaikulu ndi kukhala ndi kudya zakudya zapadera yomwe cholinga chake ndi kuwonjezera kukula;
• m'thupi yemwenso, amene anaika kukula timadzi;
• zamaganizo.

Kudziwa efficacy wa mankhwala kungakhale kuonjezera ndalama kukula. Pamene bwino cholinga chiwembu mu chaka choyamba cha mankhwala iyende mu masentimita 8.