Fanconi a Syndrome: Zizindikiro, Matendawa ndi Chithandizo

Syndrome De Toni - Debreu - Fanconi ndi aakulu kobadwa nako matenda yodziwika ndi zosiyanasiyana matenda kagayidwe kachakudya. Iwo amavutika makamaka ana a chaka choyamba cha moyo. Kawirikawiri limapezeka limodzi ndi kuvutika ena cholowa, koma angasonyeze ngati syndrome standalone.

A mwachidule mbiri

Matendawa anatulukira ndi kuphunzira mu 1931 ndi Dr. Fanconi la Switzerland. Kusanthula mwana rickets, aafupi, ndi kusintha urinalysis anaona kuti kuphatikiza mbali ayenera kutengedwa ngati kudwala osiyana. Patapita zaka ziwiri, de Tony anayambitsa kusinthidwa anawonjezera kuti alipo kufotokoza hypophosphatemia, ndipo patapita kanthawi Debra anafotokozedwa odwalawo acidaminuria.

Mu mabuku Russian, chikhalidwe ichi amatchedwa mawu "otengera kwa makolo syndrome De Toni - Debreu - Fanconi 'ndi' glyukoaminofosfatdiabet". Kunja, mChipangano aimpso Fanconi syndrome.

Zimayambitsa matenda Fanconi

Pa nthawi, sikunali kotheka mpaka kumapeto kuti tipeze chomwe ndi maziko a matenda aakulu. syndrome Fanconi ndi ngoziyi kukhala matenda chibadwa. Akatswiri akukhulupirira kuti chitukuko cha matenda ndi chifukwa mfundo kusintha, imbaenda wonongeka a impso. maphunziro ambiri anatsimikizira kuti thupi ndi kuphwanya kagayidwe ma. N'zotheka kuti Ndipotu nawo adenosine triphosphate (ATP) - pawiri amasewera yofunika kwambiri kagayidwe mphamvu. Chifukwa cha ntchito pachithunzichi wa michere anataya shuga, amino zidulo, phosphates, ndi zina zinthu chimodzimodzi zothandiza. Chonchi malo nkhanza tubules aimpso amalandira mphamvu koyenera kuti ntchito zawo. zinthu zofunikira anasonyeza pamodzi ndi mkodzo, wosweka kagayidwe kukhala kusintha rahitopodobnyh mu minofu fupa.

Fanconi syndrome ana zambiri wamba kuposa akuluakulu. Malinga ndi kafukufuku, matenda zochitika 1: 350 000 kubereka moyo. Amadwala anyamatawa ndi atsikana mulingo ofanana.

Zizindikiro za matenda Fanconi

Matendawa akhoza kuyamba pa m'badwo uliwonse, koma nthawi zambiri kuoneka kwa makanda. Glycosuria, zowombetsa mkota giperaminoatsiduriya ndi giperfosfaturiya - uyu wa ku zizindikiro yodziwika ndi matenda Fanconi. Kukhala ndi zizindikiro oyambirira zokwanira. Choyamba, makolo zindikirani kuti mwana wawo atayamba kukodza zambiri, ndipo zonse ludzu. Ana, ndithudi, sangathe kunena m'mawu, koma mwa makhalidwe awo capricious ndi amaundana okhazikika pa chifuwa kapena botolo izo zimaonekera kuti mwana kuti chinachake chalakwika.

M'tsogolo, makolo kumabweretsa mavuto ambiri pafupipafupi causeless kusanza, nthawi yaitali kudzimbidwa ndi paranormal malungo. Childs, panthawi imeneyi, mwana potsiriza afika kuwona dotolo. An dokotala wodziwa mwina akuganiza kuti chimfine ndi osakaniza zizindikiro sizimawoneka ngati. Pankhaniyi dokotala akhale ophunzira, nthawi kuzindikira syndrome Fanconi.

Zizindikiro azungu chiyani kutha. Iwo anawonjezera kwanthawi noticeable mu chitukuko lathupi ndi maganizo, pali kutchulidwa kupindika mafupa lalikulu. Kawirikawiri kusintha bwanji yekha nthambi m'munsi, chifukwa mu mapindikidwe wa varus kapena valgus mtundu. Mbali yoyamba, miyendo mwanayo ali anapotoza gudumu, lachiwiri - mu mawonekedwe a kalata "X". Ndipo iye ndi mwina, ndithudi, nyengo ndi moyo winanso wa mwanayo.

Fanconi syndrome ana mafilimu komanso kufooka kwa mafupa (chiwonongeko msanga minofu fupa), komanso kukula kwambiri retardation. Osati lilibe fractures a yaitali mafupa tubular ndi ziwalo. Ngakhale mpaka tsopano makolo si nkhawa za mmene mwanayo, ndiye panthawi imeneyi, iwo ndendende kusiya chisamaliro aluso.

Fanconi matenda akuluakulu ali osowa. Chinthu ndi kuti ndi matenda mwachibadwa kumabweretsa chitukuko cha kulephera aimpso. Zikatere ndi kosatheka kupereka Mapa aliyense yotsimikizika ndiponso kuonetsetsa kwambiri moyo zaka zambiri. mabuku limafotokoza milandu pamene pa zaka 7-8 Fanconi syndrome m'malo awo, kuwongolera noticeable mu chikhalidwe mwana ngakhalenso kuchiza. Mwatsoka, yofanana ngati kuchita panopa n'zochepa zokwanira kuti athe kupanga mfundo iliyonse yaikulu.

Matenda a syndrome Fanconi

Kuwonjezera anamnesis ndi bwinobwino la dokotala chofunika kuti asankhe ofufuza ena, kulola kuti atsimikizire matenda. Fanconi syndrome zivute zitani kumabweretsa kusokonezeka kwa impso, motero ayenera kukhala urinalysis zonse. Ndithudi, izi sikokwanira kudziwa zonse za maonekedwe a matenda. M'pofunika kuona kuti zili ndi mapuloteni mu mkodzo ndi maselo oyera, koma kuyesetsa kuti azindikire lysozyme, immunoglobulins ndi zinthu zina. kuwunika ukutionetsera mkulu zili kwenikweni shuga (glucosuria), phosphates (phosphaturia) adzakhala kuonekera ku imfa chidwi zinthu zofunika kwa thupi. Kuphunzira kotereku angathe kuchitidwa monga outpatient kapena m'chipatala.

komanso mosalephera ena kusintha kwa MAGAZI. Pamene kusanthula amuzolengedwa anasonyeza kuchepetsa kwambiri pafupifupi onse kufufuza zinthu (makamaka kashiamu ndi phosphorous). Mpatuko kutchulidwa kagayidwe kachakudya acidosis, kusokoneza ntchito wabwinobwino wa chamoyo wonse.

chigoba radiography amasonyeza kufooka kwa mafupa (fupa chiwonongeko), ndi mapindikidwe a nthambi. Nthawi zambiri anaona kwanthawi mayendedwe a kukula kwa mafupa ndi msinkhu wawo kwachilengedwenso zikusiyana. Ngati ndi kotheka, adokotala akhoza mankhwala ultrasound a impso ndi ziwalo zina za m'kati, komanso Kupenda akatswiri ofanana.

matenda masiyanidwe

Pali milandu pamene ena matenda ena amaona ngati syndrome Fanconi. Pamaso dotolo zikubweretsa yovuta kupeza chomwe chimachitika kwa wodwala pang'ono kwenikweni. Glyukoaminofosfatdiabet zina kusokonezedwa ndi pyelonephritis aakulu ndi matenda ena aimpso. Kusintha urinalysis, komanso makhalidwe chiwonongeko cha minofu fupa kudzakuthandizani dokotala kuika matenda zolondola.

Syndrome Fanconi a Chithandizo

Ndi bwino kuganizira mfundo yakuti matenda ndi aakulu. N'zovuta kwathunthu tichotse zizindikiro zosasangalatsa kuti zitha kukhala kwa nthawi kuchepetsa zizindikiro za matenda. Kodi ndi mankhwala amakono kuti azitithandiza ana odwala?

Mu malo oyamba pali zakudya. Odwala analimbikitsa kuchepetsa ntchito ya mchere, komanso zakudya zonse pachimake ndi kusuta. The zakudya kuwonjezera mkaka ndi zipatso zosiyanasiyana timadziti wokoma. Musaiwale za zakudya ndi wolemera potaziyamu (prunes, zouma apricots ndi zoumba). Ngati kumene kuperewera kwa micronutrient anafika siteji yovuta, madokotala mankhwala phwando wapadera vitamini maofesi.

Against maziko a zakudya kutumikiridwa mlingo waukulu wa chikhalidwe vitamini D. wodwalayo nthawi zonse kuunikira - ali nthawi kupereka magazi ndi mkodzo mayesero. Izi ndi zofunika kuti yake kudziwa kuyambira hypervitaminosis ndi kuchepetsa mlingo wa vitamini D. Chithandizo yaitali, maphunziro zambiri, ndi yopuma. Nthawi zambiri mankhwala zimenezi zimathandiza kuti abwezeretse kagayidwe kutanganidwa ndi kupewa mavuto aakulu.

Ngati matenda wachoka, wodwalayo kugwa m'manja a madokotala. ZIMAKHALA mafupa adzatha kulungamitsa fupa chilema ndi kwambiri kusintha miyoyo ya ana. ntchito zoterezi ziperekedwa okha nkhani ya khama ndipo nthawi yaitali chikhululukiro: zosachepera zaka imodzi ndi theka.

kaonedwe

Mwatsoka, madokotala ananena zawo odwala awa akumane. Nthawi zambiri, matenda pang'onopang'ono, m'kupita zikubweretsa kulephera impso. Mapindikidwe mafupa n'kogwiritsa chilema ndi kuwonongeka kwa khalidwe wonse wa moyo.

Kodi inu kupewa matenda? Mosakayikira, funso amanditenga aliyense amene wakumana ndi matenda Fanconi. Makolo kuyesetsa kumvetsa zimene iwo anachita cholakwika ndi kumene kusunga mwana. Momwemonso n'kofunika kudziwa ngati zinthu likuoneka kubwereza ndi ana ena. Mwatsoka, zodzitetezera si panopa otukuka. Akukonzekera kuti mwana wina, m'pofunika kukaonana ndi zachibadwa mudziwe zambiri za nkhawa zawo.

Wissler ndi matenda - Fanconi (matupi awo sagwirizana subsepsis)

Kanafotokoza matenda okha ana kwa zaka 4 mpaka 12. chifukwa matenda aakulu akadali silidziŵika. Tikhoza kuganiza kuti syndrome izi lililonse autoimmune matenda, ndi mbali zosiyanasiyana za nyamakazi. Nthawi zonse akuyamba bwinobwino, ndi kuwuka kutentha, umene ungasunge masabata pa chithunzi 39 madigiri. Nthawi zonse, pali zotupa polymorphic pa miyendo ndi zina pa nkhope chifuwa kapena m'mimba. Kuchira zambiri amapezeka popanda mavuto alionse aakulu. Koma odwala ena wamng'ono kenako kukhala aakulu olowa kuwonongeka zikubweretsa chilema.