Hunter syndrome - ochepa chabe majini matenda

Mu mankhwala, pali matenda osowa, iwo monga ndi Hunter syndrome (Mucopolysaccharidosis mtundu 2), amene Mwachitsanzo, anthu 50 okha kudwala mu Russia. Matendawa majini ndi wadutsa kuchokera mayi anyamata. moyo wake wonse mayi mwina sanali kudziwa kuti ndi chotengera cha jini kuonongeka. Mwina kubadwa kwa mwana ndi kudwala kwa akazi awa - 50%. Koma izo zikhoza kuchitika nthawi zina (ayi) kusintha mu majini a mwana wosabadwayo, koma makolo alibe kuvutika.

Hunter syndrome, limagwirira chitukuko

Anthu pali zikwi osiyana njira kagayidwe kachakudya kuti pakhale 'chuma zinyalala "ndi linanena bungwe kunja. Pamene Hunter syndrome linaphwanya kuwombola mucopolysaccharides (glycosaminoglycans) si anasonyeza, koma kudziunjikira mu zimakhala thupi. Ichi ndi chifukwa chakuti palibe iduronatsulfataza enzyme. Zikuonekeratu kuti zinthu zili choncho ziwalo ndi machitidwe Kusiya liziyenda bwino, pali kuyan'anila.

Hunter matenda, matenda chithunzi

Kwenikweni zizindikiro kuonekere pokhapokha awiri zaka zitatu, ana wabwinobwino, ndipo makolo sadziwa za matenda awo. nkhope kukhala amphamvu ndi okakala, kwambiri, kupuma amakhala phokoso, ndi mwana amayamba kupeza matenda odwala zambiri kupuma tizilombo. Maonekedwe a mnyamatayo ndi khungu lakuda pa nkhope lalifupi khosi, ndi mano yosowa milomo wandiweyani, lilime ndi mphuno. ana onse amene ali ndi matenda Hunter ndi ofanana ndi mnzake, kuti iwo anatengedwa abale.

Pambuyo zaka zitatu kapena zinayi mwana yolimba kuyenda, stiffness zimfundo ndi kukhala, iye akutaya kuyenda, akhoza kugwa. The lonse chigoba dongosolo zikusintha.

Yambani matenda a psyche, mwanayo akhale kukhumudwa kapena wankhanza. Ana ena m'khola. maluso kuti mwana amamuonera msinkhu wawo, anatayika. Iye akukhala pogwira, salankhula.

Pafupifupi odwala onse amakhudza mtima, kagayidwe kachakudya mankhwala amasonkhana mavavu ndi kuwachititsa thicken. Mu unyamata, Kusintha imperceptible, chiyambi cha kuyan'anila udzayesedwa bwino.

Pali mitundu iwiri: matenda A Hunter ndi zizindikiro ndi B. Mu mawonekedwe choyamba, patsogolo mofulumira, mukubwera retardation maganizo, ndi maonekedwe chachiwiri ndi kosavuta pamene mwana chakupulumutsa nzeru. Malinga mtundu wa matenda moyo amayembekezeka anthu angafikire zaka 50-60. Komabe, ndi mitundu choopsa cha ana moyo mpaka zaka 8-9.

matenda a matenda

Yabwino zosinthika kudziwika matenda otengera - maphunziro chibadwa cha mwana wosabadwayo. Koma mosamala si Choncho, amapatula matenda chisanadze ochepa zosatheka.

Mu mkodzo odwala anaulula wambirimbiri sulphate heparan ndi dermatan.

X-ray chithunzi cha dongosolo chigoba - angapo dysostosis (anomalies chitukuko chigoba).

Hunter syndrome chithandizo

Mankhwala zochizira mucopolysaccharidosis mtundu 2 akhala apanga ndi ndi chosowacho enzyme. "Elapraza" amatanthauza njira. Komabe, n'zotheka kupeza si odwala onse, ndalama mankhwala okwera mtengo kwambiri ndipo zizipezeka kunja.

Chithandizo cha ana amene ali ndi matenda Hunter ziperekedwe ndi boma, koma aboma adawatsutsa, kuyambira kumwa pachaka pa munthu angafanane ndi bajeti yokonza chipatala lonse. Koma mankhwala a ana amenewa moyo, angayerekezedwe ndi shuga mankhwala pamene munthu nthawi zonse ayenera insulin. Aliyense akudziwa kuti popanda insulin ndi matenda ashuga simumakhala yaitali, vuto lomwelo ndi kudwala izi. Makolo amene adakali mwanjira kutsindikiza kupeza mankhwala (othandizira, chikondi), kunena kuti mwana akupeza bwino, kuyambira kuyenda ndi kukhala kwambiri moyo wabwinobwino.