Fanconi syndrome: zviratidzo, kuongororwa uye kurapwa

The de de Toni-Debreu-Fanconi syndrome chirwere chakakomba chepabonde chinoratidzwa nehutano hwakasiyana-siyana hwemagetsi. Vatambudze kakawanda vana vegore rokutanga rehupenyu. Sezvo mutemo, unowanikwa mukubatana nemamwe mararamiro ekuzvarwa, asi anogonawo kuzviratidzira sechirwere chekuzvimirira.

Nzira duku pfupi munhoroondo

Chirwere chakawanikwa uye chakadzidziswa muna 1931 naDkt. Fanconi kubva kuSwitzerland. Kucherechedza mwana ane zvikwereti, kukura kwakadzama uye kuchinja mumiguedzo yerino, akazosvika pakugumisa kuti uku kuwirirana kwezviratidzo kunofanirwa kuonekwa semunhu akasiyana-siyana. Makore maviri gare gare, De Tony akazarura zvaanochinja, akawedzera hypophosphatemia kune tsanangudzo yakatsanangurwa, uye mushure mechinguva Debreb yakaona aminoaciduria kune vakadai.

Mune mabhuku epamba iyi iyi inonzi mazita okuti "nhaka ye Tony-Debreu-Fanconi syndrome" uye "glucoaminophosphate diabetes". Kune imwe nyika, iyo inowanzotaurwa nezvayo seanal Fanconi syndrome.

Zvinokonzera Fanconi syndrome

Panguva iyi, zvakanga zvisingakwanisi kuwana kusvika pakupedzisira kuguma kwechirwere ichi chakakomba. Fanconi syndrome inonzi inonzi genetic disease. Nyanzvi dzinofunga kuti kukura kwehutachiona uku kunosanganiswa nechinangwa chinoshanduka chinotungamirira kushanda kusina kunaka kwetsvo. Zvidzidzo zvakawanda zvakatsigira kuti pane kupesana mumasero emagetsi mumutumbi. Zvinogoneka kuti munyaya yacho inobatanidza adenosine triphosphate (ATP) - chikwata chinotora basa rinokosha pakuchinjana kwesimba. Somugumisiro webasa rakaipa remakemikari, glucose, amino acids, phosphates nezvimwe zvinhu zvisingasviki zvinobatsira zvakarasikirwa. Mumamiriro ezvinhu akadai, iyo renal tubules haigamuchiri simba rinodiwa mubasa ravo. Zvinhu zvinobatsira zvakanyanyiswa pamwe chete nemurini, zvirongwa zvemagetsi zvinokanganiswa, rachitis-shanduko kuchinja mumapfupa efupa.

Fanconi syndrome muvana yakawanda zvikuru kupfuura yevakuru. Maererano nehuwandu, huwandu hwehutachiona hunokwana 1: 350 000 vacheche. Vakomana nevasikana vose vanorwara zvakaenzana.

Zviratidzo zveFanconi syndrome

Chirwere chacho chinogona kukura pane imwe nguva, asi kazhinji inowanikwa muvana vegore rokutanga rehupenyu. Glucosuria, generalized hyperaminoaciduria uye hyperphosphaturia - iyi triad yezviratidzo inoratidzira Fanconi syndrome. Zviratidzo zvinokura nokukurumidza zvakakwana. Chokutanga chese, vabereki vanocherechedza kuti mwana wavo anotanga kuramba kakawanda, uye nyota yake inogara ichimutambudza. Vana, zvirokwazvo, havagoni kutaura izvi nemashoko, asi maererano nehupenyu hwavo husingaiti uye nguva dzose vakanamatira pabhokisi kana bhokwe zvinenge zvakajeka kuti chimwe chinhu chakashata nemwana.

Munguva yemberi, vabereki vanowanzoshungurudzwa nekurutsira kusingabatsiri nguva dzose, kuvhiringidzwa kwenguva refu uye fivha isina kutsanangurwa . Sezvo mutemo, panguva ino mucheche mwana anozopedzisira aona chiremba. Nyanzvi yevana vane ruzivo inogona kunge inofungidzira kuti izvi zvinowanzobatanidza zviratidzo hazvifananidzi zvakafanana nehuwandu hwehutano. Kana chiremba achitsvaga kuti ave nekuverenga nekunyora, achakwanisa kuziva Fanconi syndrome munguva.

Zviratidzo zvisinei hazvibviri kupera chero kupi zvako. Akawedzera kwavari chikafu chinowanikwa mukukura kwepanyama uye kwepfungwa, pane zvinonzi mavhirivheni emapfupa makuru. Kazhinji, kuchinja kunobatsira chete kumativi ekupedzisira, zvichikonzera kuora muvirus kana valgus. Muchiitiko chekutanga, makumbo omwana achave akaputirwa nemhepo, muchipiri - nenzira yehutsamba "X". Zvose zvakasiyana-siyana, zvechokwadi, hazvina kunaka pamusana pehupenyu hwemwana.

Fanconi syndrome muvana kazhinji inosanganisira osteoporosis (kuparadzwa kusati kwemafupa emapfupa), pamwe nekukura kwekukura kukuru. Kuputsika kwemapfupa akawanda kwenguva refu uye kupora simba hakubviswi. Kunyange kana vabereki vasina kunetseka nezvemamiriro ezvinhu emucheche, panguva ino havazoregi kubatsirwa.

Fanconi syndrome muvanhu vakuru haigoni. Chinhu ichi ndechekuti chirwere ichi chakakomba chinowanzokonzera kukura kwekukundikana kwetsvina. Mune mamiriro ezvinhu, hazvibviri kupa chero chirevo chisinganzwisisiki uye kuvimbisa kurarama kwenguva refu. Mune mabhuku, zviitiko zvinorondedzerwa apo, pazera remakore 7-8, Fanconi syndrome yakapinda mukati, pakanga pane kujekeswa kwakanyanya mumamiriro emwana uye kunyange kutora. Zvinosuruvarisa, kusarudzwa kwakadaro mumitambo yemazuva ano haisi nyore, kuitira kuti iwe ugone kutsvaga zvikonzero zvakakomba.

Kuongororwa kweFanconi syndrome

Mukuwedzera pakusunganidza anamnesis uye kunyatsorongororwa, chiremba achanyatsogadza mimwe miti yekuongorora chirwere chacho. Fanconi syndrome hazviiti kuti itadze kuvhiringidzwa kwetsvo, uye saka kazhinji urinalysis ichave yakamanikidzwa. Zvechokwadi, izvi hazvina kukwana kuzarura zvinhu zvose zvechirwere chechirwere chacho. Zvakakosha kutarisa zviri mukati moutino weprotheni uye leukocyte, asiwo kuedza kuona lysozyme, immunoglobulins nezvimwe zvinhu. Mukuongorora, zvakare, yakakosha yehuga (glucosuria), phosphates (phosphaturia), icharatidza kurashikirwa kwezvinhu zvakakosha mumuviri. Tsvakurudzo yakadai inogona kuitwa kunze kwemuviri uye muchipatara.

Mukuongorora kweropa, zvakare, dzimwe shanduko hazvidzivisike. Pakutsvakurudza kwehupenyu hwehupenyu hwehutachiona kuderera kweavo zvose zvinonzi microelements inonzi (yekutanga ye calcium uye phosphorus). Chirevo chinonzi metabolic acidosis chinokonzera izvo zvinopesana nekushanda kwechimiro chechimiro chose.

Mifananidzo yemasaga icharatidza osteoporosis (kuparadzwa kwemapfupa emapfupa) uye kushandiswa kwemakumbo. Muzviitiko zvakawanda, kune chidimbu muhuwandu hwekuwedzera kwemapfupa uye kusapindirana kwavo nezera rehupenyu. Kana zvichidikanwa, chiremba anogona kugadza ultrasound yeitsvo nedzimwe nhengo dzomukati, pamwe nekuongororwa nevanosangana nevamwe.

Differential diagnosis

Pane zviitiko apo dzimwe humwe zvirwere zvinowedzera seFanconi syndrome. Pamberi pachiremba kune basa rakaoma kunzwisisa, izvo zvinoitika kune murwere muduku chaizvoizvo. Dzimwe nguva glucoaminophosphate chirwere cheshuga chinokanganiswa neperielonephritis isingaperi uye dzimwe zvirwere zvepfungwa. Kuchinja mukutsvaga kwemuti, pamwe chete nehutachiona hwehutachiona hwepfupa huchabatsira chiremba wevana kuti agadzirise chirwere chakakodzera.

Kurapa kweFanconi syndrome

Zvakakosha kufunga nezvekuti chirwere ichi chisingaperi. Zvakaoma zvachose kubvisa zvachose zviratidzo zvisingafadzi, unogona kuderedza zviratidzo zvechirwere kwenguva. Ko mushonga wemazuva ano unopa chii kubatsira vana vanorwara?

Pakutanga ndiko kudya. Varwere vanorayirwa kupedza kushandiswa kwemunyu, pamwe chete nezvose zvakaoma uye zvinopfungaira. Misi uye michero yakasiyana-siyana inotapira jisi inowanikwa kune kudya. Usakanganwa nezvezvibereko zvakakosha mu potassium (mapapunyika, apricots akaomeswa namazambiringa akaomeswa). Muchiitiko chekuti kushaya micronutrient kwasvika padanho rakakosha, vanachiremba vanopa kugamuchirwa kwevhitamini yakasiyana-siyana.

Kurwisana nemamiriro ezvinhu ezvokudya, maitiro makuru e vitamin D anotungamirirwa.Hurwere hwemurwere hunogara huchiongororwa - iye nguva nenguva anofanira kupa ropa uye urini kuti zviongorore. Izvi zvakakosha kuitira kuti zvive nenguva yakatarisa kutanga kwe hypervitaminosis uye kuderedza muzana we vitamini D. Kuchengetedza kwenguva yakareba, mafundo makuru, nekukanganisika. Muzviitiko zvakawanda, kurapa kwakadaro kunobatsira kudzorera metabolism yakavhiringidza uye kudzivirira zvinetso zvakakomba.

Kana chirwere ichi chaenda kure, murwere anowira mumaoko evarapiki. Vane ruzivo rwezvemapurisa vachakwanisa kugadzirisa kuora kwemafupa uye kuchinja zvakanyanya mararamiro emwana wehupenyu. Mabasa akadaro anongowanikwa chete kana akaramba achiregererwa uye kwenguva yakareba kuregererwa: kwemakore anenge nehafu.

Forecast

Zvinosuruvarisa, kufungidzira kune vakadaro varwere hakuna kunaka. Muzviitiko zvakawanda, chirwere chacho chinowedzera zvishoma nezvishoma, nokukurumidza kana kuti gare gare chinotungamirira kukundikana kwechirwere. Kuora mwoyo kwemapfupa emasaga kunokonzera kukuremara uye kuora kwehuwandu hwehupenyu.

Izvi zvinogona kudziviswa here? Pasina mubvunzo, mubvunzo wakadaro unofadza kune ani zvake akawana Fanconi syndrome. Vabereki vanoedza kunzwisisa zvavakakanganisa uye kwavasina kutevera mwana. Izvi zvakakoshawo kuziva kana mamiriro ezvinhu nevamwe vana vari kutyisidzirwa. Zvinosuruvarisa, matanho ekudzivirira haana kumbosimbiswa panguva ino. Vakaroorana vakaronga kuwana mumwe mwana, zvakakosha kutarisana neine geneticist kuti uwane mamwe mashoko pamusoro penhamo inonakidza.

Wissler syndrome - Fanconi (allergic subsepsis)

Ichi chirwere chinorondedzerwa chete muvana kubva pamakore 4 kusvika ku12. Chikonzero chechirwere ichi chakanyanya hachizivikanwi. Inogona kufungidzirwa kuti iyi syndrome inoratidzira chirwere che autoimmune, chimiro chakasiyana cherheumatoid arthritis. Iyo inotanga nguva dzose yakanyanyisa, nekusimudzirwa kwekushisa, iyo kwevhiki inogona kubatisisa kune chimiro che 39 degrees. Muzviitiko zvose, kuputika kwepolymorphous kunowanikwa pamakumbo, dzimwe nguva pachiso, pachifuva kana mudumbu. Kazhinji pane kupora pasina matambudziko makuru. Zvisinei, chikamu chevaduku vaduku vane nguva inova nekukuvadza kwakakomba kwakanyanya, zvichiita kuremara.