Matenda a Prader-Willi

Matenda a Prader-Willi ndi matenda omwe amapezeka kuyambira pakubadwa (kobadwa nako). Zimakhudza ziwalo zambiri za thupi. Anthu omwe ali ndi vutoli amakhala ndi njala nthawi zonse komanso onenepa. Amakhalanso ndi vuto la kutulutsa minofu, kuchepa kwamaganizidwe, komanso ziwalo zogonana zomwe sizikukula.

Matenda a Prader-Willi amayamba chifukwa cha jini yomwe imasowa pa chromosome 15. Nthawi zambiri, makolo aliyense amapereka kromosome imeneyi. Vutoli limatha kuchitika m'njira zingapo:

• Mitundu ya abambo imasowa pa chromosome 15
• Pali zopindika kapena zovuta ndi majini a abambo pa chromosome 15
• Pali mitundu iwiri ya chromosome ya amayi 15 ndipo palibe kuchokera kwa abambo

Zosintha zamtunduwu zimachitika mosasintha. Anthu omwe ali ndi vutoli nthawi zambiri samakhala ndi mbiri ya banja la vutoli.

Zizindikiro za matenda a Prader-Willi amatha kuwonekera pobadwa.

• Makanda obadwa kumene nthawi zambiri amakhala ocheperako
• Makanda abambo amakhala ndi machende osavomerezeka

Zizindikiro zina zitha kuphatikiza:

• Kuvuta kudyetsa ngati khanda, ndi kunenepa pang'ono
• Maso owoneka ngati amondi
• Kuchepetsa chitukuko cha magalimoto
• Mutu wopapatiza pakachisi
• Kukula msanga
• Msinkhu waufupi
• Kukula pang'onopang'ono kwamalingaliro
• Manja ndi mapazi ochepa kwambiri poyerekeza ndi thupi la mwanayo

Ana amalakalaka kwambiri chakudya. Amachita chilichonse kuti apeze chakudya, kuphatikiza kusungira. Izi zitha kubweretsa kunenepa mwachangu komanso kunenepa kwambiri. Kunenepa kwambiri kungayambitse:

• Type 2 matenda ashuga
• Kuthamanga kwa magazi
• Mavuto olumikizana ndi mapapo

Kuyesedwa kwa majini kumapezeka kuyesa ana a Prader-Willi matenda.

Mwana akamakula, mayeso a labu amatha kuwonetsa zizindikiritso zowopsa, monga:

• Kulekerera kosazolowereka kwa glucose
• Kuthamanga kwa insulin m'magazi
• Mulingo wochepa wa oxygen m'magazi

Ana omwe ali ndi matendawa sangayankhe chifukwa chotsegula mahomoni. Ichi ndi chizindikiro kuti ziwalo zawo zoberekera sizikupanga mahomoni. Pakhoza kukhalanso zizindikilo za kulephera kwamtima kumbali yakumanja komanso mavuto amondo ndi mchiuno.

Kunenepa kwambiri ndikoopseza kwambiri thanzi. Kuchepetsa zopatsa mphamvu kumatha kuchepetsa kunenepa. Ndikofunikanso kuwongolera chilengedwe cha mwana kuti muchepetse mwayi wopeza chakudya. Banja la mwanayo, oyandikana naye, komanso sukulu ayenera kugwira ntchito limodzi, chifukwa mwanayo amayesetsa kupeza chakudya kulikonse komwe kungatheke. Kuchita masewera olimbitsa thupi kumatha kuthandiza mwana yemwe ali ndi matenda a Prader-Willi kupeza minofu.

Hormone yokula imagwiritsidwa ntchito pochiza matenda a Prader-Willi. Itha kuthandiza:

• Mangani nyonga ndi changu
• Sinthani kutalika
• Lonjezerani minofu ndikuchepetsa mafuta amthupi
• Sinthani magawidwe olemera
• Lonjezerani mphamvu
• Lonjezerani kuchuluka kwa mafupa

Kutenga chithandizo cha kukula kwa mahomoni kumatha kubweretsa kugona. Mwana amene amamwa mankhwala a mahomoni amafunika kuyang'aniridwa ndi matenda obanika kutulo.

Mahomoni ocheperako amatha kukonzedwa pakutha msinkhu ndikusintha kwa mahomoni.

Uphungu wamaganizidwe ndi machitidwe ndiofunikanso. Izi zitha kuthandizira pamavuto omwe anthu amakumana nawo monga kunyamula khungu komanso kuchita zinthu mokakamiza. Nthawi zina, mankhwala angafunike.

Mabungwe otsatirawa atha kupereka zothandizira ndi chithandizo:

• Mgwirizano wa Prader-Willi Syndrome - www.pwsausa.org
• Maziko a Kafukufuku wa Prader-Willi - www.fpwr.org

Mwanayo adzafunika maphunziro oyenera pamlingo wawo wa IQ. Mwanayo adzafunikiranso kulankhula, kulimbitsa thupi, komanso kuthandizira anthu ogwira nawo ntchito mwachangu. Kulamulira kulemera kudzakuthandizani kuti mukhale ndi moyo wabwino komanso wathanzi.

Zovuta za Prader-Willi atha kukhala:

• Type 2 matenda ashuga
• Kulephera kwa mtima kumanja
• Matenda a mafupa (mafupa)

Itanani yemwe akukuthandizani ngati mwana wanu ali ndi zodwala. Matendawa amakayikiridwa nthawi zambiri pobadwa.

Cooke DW, DiVall SA, Radovick S. Kukula kwabwino komanso kosabereka kwa ana. Mu Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ olemba. Buku la Williams la Endocrinology. Wolemba 14th. Philadelphia, PA: Elsevier; 2020: chap 25.

Escobar O, Viswanathan P, Witchel SF. Matenda endocrinology. Mu: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 9.

Kumar V, Abbas AK, Aster JC. Matenda achibadwa ndi ana. Mu: Kumar V, Abbas AK, Aster JC, olemba, eds. Matenda Aakulu a Robbins. 10th ed. Philadelphia, PA: Elsevier; 2018: mutu 7.