Lesch - Nyhan syndrome: chithunzi cholowa zimayambitsa, zizindikiro, chithandizo

Lesch syndrome - Nyhan zimachitika matenda otengera kuti imakhudzana ndi matenda kagayidwe kachakudya. Matendawa kumaonekera miyezi ya moyo. Ndi zoopsa chifukwa sakutsutsana ndi mankhwala enieni. Chithandizo zimathandiza ziziyenda chikhalidwe, koma osati kwathunthu kuchiritsa mwana, zomwe zimayambitsa. ndi makhalidwe a matenda chiyani? ndi mosavuta ngati matenda ndi chiyani?

tanthauzo

Mwa matenda zina za kagayidwe purine secrete nthenda Lesch - Nyhan. syndrome limapezeka nthawi zambiri anyamata, monga zogwirizana X-khromozomu. Iwo amagwirizana ndi akusowa enzyme, zomwe zinachititsa kuwombola asidi uric wasweka, kuchuluka ake kumawonjezera. Kudzikundikira mankhwala kukuonetsedwa moyandikana ndi kagayidwe kachakudya ubongo mawonetseredwe ndi sipangakhalenso amaganiziridwa matenda. Khalidwe lachirendo la mwanayo amafuna kufufuza mankhwala, womwenso kusonkhana ndi kusanthula majini Kupenda wamba.

etiology

Chifukwa syndrome Lesch Kodi - Nyhan? Zimayambitsa matenda mizu mwa matenda chibadwa. Izi zikutanthauza kuti chitukuko cha kudwala cha kukhalapo losokonekera recessive mu mayi - kugonana zogwirizana chilema. Tsatanetsatane wa ndondomeko ndi pansipa. Kupezeka kwa mbewu izi sikuti kuyambitsa chitukuko cha matendawa - Mwina ndi 25%. Pofuna kuona chiopsezo cha matenda, izo tikulimbikitsidwa wozengereza uphungu kuchipatala ndi chibadwa.

matenda majini

Syndrome Lesch - Nyhan (recessive mode cholowa kugonana zogwirizana) ndi aakulu tinatengera matenda. Iwo amagwirizana ndi chotupa cha HPRT jini (hypoxanthine-guanine phosphoribosyltransferase), yomwe inali pa X-khromozomu - pa dzanja lake yaitali. Mu akazi, pali awiri DNA ngati ndipo amuna ndi chimodzi, nchifukwa chake matenda kumtundu ambiri mwa anthu. Milandu ya syndrome mu akazi ali osowa, ndipo maonekedwe ake akhoza zimachitika X-inactivation.

mbali amuzolengedwa

Chifukwa puloteni matenda akuwonetseredwa syndrome Lesch - Nyhan. Sayansi ndi akusowa wa hypoxanthine-guanine. M'mikhalidwe wabwinobwino, enzyme amenewa alipo maselo onse, koma ambiri a iwo akupezeka mu chiwerengero cha manyuroni ubongo. matenda majini kumabweretsa kulibe, chifukwa mu kutanganidwa kuwombola hypoxanthine. Ici ulikubala yambiri asidi uric amene wapezeka ndi kafukufuku mu mkodzo ndi magazi. Ndicho chifukwa odwala ndi zizindikiro za gout.

Zimaonetsa madzimadzi cerebrospinal. Izo kumawonjezera mlingo wa hypoxanthine, osati asidi uric. Izi zimapangitsa kuvutika neurologic, ndi asidi uric kudzera m'magazi ubongo chotchinga pochitika ayi. The etiology matenda khalidwe si panopa anaika. Asayansi sayanjane izo ndi owonjezera hypoxanthine acid uric. Akukhulupirira kuti hyperuricemia kumabweretsa kupanda dopamine. Anapanga hypersensitivity D1-zolandilira opezeka ku manyuroni striatal. Izi zingachititse kuti Zotsatira.

mawonetseredwe matenda

Popeza matenda majini kugwirizana momwe matendawa kumaonekera Lesch - Nyhan. Zizindikiro za matenda makamaka kusonyeza kuwonongeka kwa wamanjenje dongosolo. Odwala nkhawa mawu khunyu, pamene omangana akathyole magulu ena minofu. giperkinezy komanso wamba, akuwonetseredwa kukokana miyendo chifukwa cha mowiriza kuwonjezeka minofu kamvekedwe. Ana ndi matenda lino zomwe zikutsalirazi kumbuyo chitukuko thupi ndi maganizo: zolankhula zawo ndi slurred, mwina mochedwa kuyamba kuyenda. Amene amadza pa ntchito ya mitsempha vagus kumabweretsa kuchuluka gag reflex: m'mimba Ndikudzikhuthula zimachitika popanda chifukwa chirichonse. Komanso, ziwalo pafupipafupi ndi khunyu khunyu. Matendawa amagwirizana ndi matenda kagayidwe kachakudya, potero kupangitsa zizindikiro zenizeni. Per tsiku, kawirikawiri, wambirimbiri mkodzo, amene chikugwirizana ndi ludzu nthawi zonse ndi aimpso kudwala. asidi Uric ndi atasunga makutu, ndikumutsogolera mapangidwe otchedwa tophi. Mu mkodzo wapezeka timibulu uric asidi ndi lalanje mtundu. Komanso zimachitika mafupa, kawirikawiri amakhala aang'ono. Kukhala kutupa - nyamakazi.

khalidwe

Kodi moyo ndi zizolowezi matenda Lesch - Nyhan? Syndrome kwambiri kusintha khalidwe la mtima chifukwa CNS. Mwana amakhala wosakhazikika kwambiri, maganizo ake zikusintha. Makamaka nkhani yochititsa chidwi ya olusa omwe angagwe popanda chifukwa nthawi iliyonse. ana awa ali ndi chizolowezi kudziletsa zoipa, kuti panopa umagwiritsidwa ntchito pa kulumidwa ndi zimakhalapo. Amaona khalidwe chizindikiro cha kudwala lapansi. Ngakhale tilinazo zonse kuti ululu sasiya odwala. Iwo akhoza kulirira ululu, koma kupitiriza kupereka kudziletsa zoipa.

diagnostics

Matenda "syndrome Lesch - Nyhan" (zithunzi za odwala anapereka m'nkhani) zachokera kuzionetsetsa matenda ndi njira yapadera zina kafukufuku. Zikusonyeza kudwala thandizo zitatu chizindikiro. Samalani matenda minofu convulsive chikhalidwe, chizolowezi kudzimvera choipa ndipo polyuria. A udindo wapadera ndi ankaimba ndi zoopsa yokha kuti ayenera kuchenjeza makolo. Pambuyo kudziwa mwanayo zizindikiro anatumiza mkodzo ndi kusanthula magazi. Sayansi adzaona mlingo wa asidi uric mu madzi awa kwachilengedwenso. M'pofunikanso kuti kuganiziranso chibadwa, omwe anatsimikizira matenda. Ndi bwino kuti impso ultrasound kudziwa kudwala mu iwo. Pambuyo chitsimikiziro cha matenda mwana wayamba mayina ndi katswiriyu ndi rheumatologist.

chithandizo

njira pharmacological ndipo sanali pharmacological kuthandiza kukonza vuto Lesch - Nyhan. Chithandizo umalimbana kupewa mavuto ndi kusintha. Kuchepetsa chiopsezo mapangidwe kulephera impso ndichepe uric asidi msinkhu, omwe kufika 'Allopurinol ". Ndi bwino kugwiritsa ntchito "ntchito diazepam" kudzilimbitsa wodwalayo komanso kuthetsa akuyesetsa kuti kuwononga yokha. Mukhozanso kulandira mankhwala ena. Kuwonjezera kufunika kukhalabe ulamuliro wa khalidwe. Pamene kuukira aukali akhoza perekani "Risperidone". Komanso, ayenera kuthetsa mavuto. Izi zingathandize wodwalayo kuti azolowere zachilengedwe ndi kulowa kukhudzana kwambiri ndi anthu ena. Support mabanja ndi chinthu chofunikira kuti utithandiza khalidwe la. analimbikitsa diapering kapena magolovesi zofewa kuteteza ku kudzikonda zoipa. Tinali ankakonda kuchotsedwa mano, pofuna kupewa kulumidwa. Pa nthawi, kukula kwa mankhwala, monga mano, akulola ntchito mbale wapadera, amene anayikidwa pa mano, popanda kuchititsa kusapeza la wodwalayo.

zosokonezeka

Ngati pathologies kwambiri, pali mavuto ndi matenda Lesch - Nyhan. Matendawa akhoza kuyambitsa zotsatira kugwirizana ndi kudzikundikira asidi uric ndi hypoxanthine. matenda amenewa angafupikitse moyo ndi kuteteza yachibadwa kuti azolowere anthu. Mwa matenda anasonyeza - nyamakazi nephrolithiasis.

Olowa kutupa amagwirizana ndi yothetsa asidi uric. timibulu limodzi lili mavuto aakulu pa chichereŵechereŵe minofu ndi zachilengedwe. Kawirikawiri amakhudza mafupa a mapazi ndi manja. M'munda wa kutupa kuoneka soreness ndi redness. Ululu syndrome kumawonjezera ndi kayendedwe.

Nephrolithiasis (impso miyala kapena) angachotsedwe mavuto monga pyelonephritis. The ndondomeko yotupa ikukhudza mafupa a chiuno aimpso. Infection akhoza kufalitsa kapena hematogenous urinogennym ndi kukwapula minofu ndi interstitium. Pamene tikupita ku gawo aakulu kutupa zinayambitsa sizingasinthe njira sclerosis. chitukuko matenda kumabweretsa mapangidwe a insufficiency aakulu aimpso. Makamaka oopsa ndi m'malo a zinthu structural wa connective minofu impso, izo irreversibly kukanakhala kumuphwanyira ntchito yake - ndi Kugawilidwa kwanthaka wa thupi zosafunika zinthu.

Izi ndi mbali ya kudwala Lesch - Nyhan. Syndrome ndi wosachiritsika kwathunthu. Njira umalimbana kuchepetsa zizindikiro matenda ndi olimba boma. yofunika kwambiri imeneyi ankaimba mtima chilengedwe ndiponso kukhala malo abwino.