Prader-Willi syndrome

Mob Prader-Willi syndrome yog ib yam kab mob uas muaj los ntawm kev yug los (mob hlwb). Nws muaj feem xyuam rau ntau qhov ntawm lub cev. Cov neeg muaj tus mob no nws yuav tshaib plab txhua lub sijhawm thiab dhau los ua neeg rog. Lawv kuj muaj cov leeg ua kom tsis zoo, ua rau lub hlwb muaj peev xwm, thiab tsis paub txog kev sib deev.

Prader-Willi syndrome yog tshwm sim los ntawm kev ploj caj ces ntawm cov chromosome 15. Feem ntau, cov niam txiv txhua tus xwj ib daim qauv ntawm cov chromosome no. Qhov tsis xws luag tuaj yeem tshwm sim hauv ob peb txoj kev:

• Tus txiv lub caj ces ploj mus nyob rau chromosome 15
• Muaj cov tsis xws luag lossis teeb meem nrog leej txiv cov caj ces ntawm roj xoos 15
• Muaj ob daim qauv ntawm leej niam lub chromosome 15 thiab tsis muaj los ntawm leej txiv

Cov kev hloov caj ces no tshwm sim cia li tuaj. Cov neeg muaj tus mob no feem ntau tsis muaj tsev neeg keeb kwm ntawm tus mob.

Cov cim qhia ntawm Prader-Willi syndrome tuaj yeem pom thaum yug.

• Menyuam mos feem ntau me me thiab muag ntaws
• Cov txiv neej menyuam mos yuav muaj cov noob qes uas tsis tau npaj cia

Lwm cov tsos mob tuaj yeem suav nrog:

• Muaj teeb meem pub mis rau menyuam yaus, ua rau lub cev hnyav tsis zoo
• Muaj qhov muag zoo li almond
• Ncua kev loj hlob lub cev muaj zog
• Nqaim taub hau ntawm cov tuam tsev
• Kev hnyav hnyav sai dua
• Luv luv
• Kev loj hlob qeeb qeeb
• Lub cev me me thiab txhais tes ua piv rau tus menyuam lub cev

Cov menyuam yaus muaj lub siab xav noj zaub mov. Lawv yuav ua txhua yam kom tau zaub mov noj, suav nrog ua chaw nkaum. Qhov no tuaj yeem ua rau nce phaus sai thiab rog rog rog. Kev rog rog rog yuav ua rau:

• Mob ntshav qab zib Hom 2
• Ntshav siab
• Cov teeb meem sib koom ua ke thiab lub ntsws

Kev kuaj keeb kwm muaj los sim me nyuam rau tus mob Prader-Willi syndrome.

Thaum tus menyuam hlob zuj zus lawm, kev kuaj ntshav mus kuaj yuav qhia pom kev rog rog, xws li:

• Txawv siab tsis pub ntshav qabzib
• Muaj tshuaj insulin ntau hauv cov ntshav
• Cov pa oxygen tsawg nyob hauv cov ntshav

Cov menyuam yaus uas muaj tus mob no yuav tsis teb rov qab los luteinizing yam tshuaj muaj sia. Qhov no yog cov cim qhia tias lawv lub cev pw ua ke tsis tsim cov tshuaj hormones. Kuj tseem yuav muaj cov cim qhia txog tias muaj lub plawv dhia tsis zoo thiab teeb meem hauv lub hauv caug thiab lub ntsag.

Kev rog yog qhov kev hem thawj tshaj plaws rau kev noj qab haus huv. Txo cov calories ntau yuav tswj qhov hnyav ntxiv. Nws tseem yog ib qho tseem ceeb uas tswj tus me nyuam ib puag ncig kom tiv thaiv kev nkag mus rau zaub mov. Tus menyuam tsev neeg, cov neeg nyob sib ze, thiab tsev kawm ntawv yuav tsum tau ua haujlwm ua ke, vim tias tus menyuam yuav npaj kom tau zaub mov ntawm qhov ua tau. Kev tawm dag zog tuaj yeem pab tus menyuam nrog Prader-Willi syndrome ua rau cov leeg mob.

Kev loj hlob hormone siv los kho tus mob Prader-Willi syndrome. Nws tuaj yeem pab tau:

• Tsim lub zog thiab maj mam
• Txhim kho qhov siab
• Ua kom cov leeg hnyav thiab ua rau lub cev rog
• Txhim kho qhov hnyav dua
• Nce siab tawv
• Ua kom pob txha ceev

Noj cov kev loj hlob hormone kho yuav ua rau pw tsaug zog apnea. Ib tug me nyuam uas siv tshuaj pab kho hormone yuav tsum tau saib xyuas kev ua pa tsaug zog.

Qeb qis ntawm cov tshuaj hormones poj niam txiv neej tuaj yeem kho kho thaum tiav nkauj tiav nraug nrog kev hloov kho keeb.

Kev mob hlwb thiab kev qhuab ntuas tseem ceeb heev. Qhov no tuaj yeem pab rau cov teeb meem tshwm sim xws li xaiv tawv nqaij thiab kev coj tus yam ntxwv. Qee zaum, yuav tau noj tshuaj.

Cov koom haum hauv qab no tuaj yeem muab cov khoom siv thiab kev txhawb nqa:

• Lub Koom Tes Nrog Ua Tub Rog - Willi Syndrome - www.pwsausa.org
• Lub hauv paus rau Kev Tshawb Fawb-Willi Kev Tshawb Nrhiav - www.fpwr.org

Tus me nyuam yuav xav tau txoj kev kawm kom raug rau lawv qib IQ. Tus me nyuam tseem xav tau kev kho mob kev hais lus, kev siv lub cev, thiab kev ua haujlwm kom ntxov li ntxov tau. Kev tswj lub cev hnyav yuav ua rau lub neej zoo dua thiab muaj kev noj qab nyob zoo.

Teeb meem ntawm Prader-Willi tuaj yeem suav nrog:

• Mob ntshav qab zib Hom 2
• Txoj cai nres lub plawv
• Teeb meem pob txha (orthopedic) teeb meem

Hu koj tus kws kho mob yog tias koj tus me nyuam muaj cov tsos mob no. Qhov cuam tshuam no feem ntau xav tias yuav yug thaum yug los.

Cooke DW, DiVall SA, Radovick S. Kev ib txwm muaj thiab kev loj hlob ntawm menyuam yaus. Hauv Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ eds. Williams Phau Ntawv ntawm Endocrinology. Xab 14th. Philadelphia, PA: Elsevier; 2020: chap 25.

Escobar O, Viswanathan P, Witchel SF. Kab mob hlwb endocrinology. Hauv: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas ntawm Kev Kuaj Mob Kuaj Mob. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 9.

Kumar V, Abbas AK, Aster JC. Kab mob caj thiab me nyuam yaus. Hauv: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10 tus ed. Philadelphia, PA: Elsevier; 2018: chap 7.