Syndrome Fanconi sika: Izimpawu, Sifo Nokuselapha

Syndrome De Toni - Debreu - Fanconi kuyinto okunzima yesifo azalwa naso libhekene ezihlukahlukene iziyaluyalu umzimba. They jeza ikakhulukazi izingane konyaka wokuqala wokuphila. Ngokuvamile kwenzeka lihambisana namanye kwezinso ngofuzo, kodwa engaveza njengoba syndrome ezimele.

Umlando omfishane

Lesi sifo watholwa futhi wafunda ngo-1931 nguDkt Fanconi yeSwitzerland. Ukuhlola ingane nge yamathambo, onesiqu esifushane, futhi izinguquko urinalysis, waphetha ngokuthi le inhlanganisela izici kufanele kubhekwe njengendlela zokugula ehlukile. Ngemva kweminyaka emibili, de Tony esethula izichibiyelo ukungezwa incazelo hypophosphatemia ekhona, futhi ngemva kwesikhashana Debra zikhonjwe kulezi ziguli acidaminuria.

Ezincwadini isiRashiya, kulesi simo sibizwa ngokuthi amagama athi "a syndrome lezinceku De Toni - Debreu - Fanconi 'futhi' glyukoaminofosfatdiabet". Phesheya, uvame ukubizwa ngokuthi kwezinso Fanconi syndrome.

Izimbangela Fanconi syndrome

Okwamanje, kwakungenakwenzeka kuze kube sekupheleni ukuze uthole ukuthi yini isisekelo lesi sifo ezinzima. Fanconi syndrome uzakuthathwa ukuba isifo esidluliselwa ngofuzo. Ochwepheshe bakholelwa ukuthi ukuthuthukiswa kwalesi sifo kungenxa kuguquka iphuzu, okuholela ukungasebenzi nezinso. Ukuhlola okuhlukahlukene isikuqinisekisile ukuthi umzimba kungukuphula umzimba amaselula. Kungenzeka ukuthi empeleni abathintekayo adenosine triphosphate (ATP) - ekhuthaza odlala indima ebalulekile amandla umzimba. Ngenxa yalokho wokusebenza engalungile enzyme glucose elahlekile, amino acid, phosphate, kanye nezinye izinto ezingekho ngaphansi ewusizo. Endaweni nokhahlo kangaka tubules kwezinso ongamukeli amandla adingekayo ukuze ukusebenza kwabo. izinto eziwusizo ziboniswa kanye umchamo, umzimba eziphukile ukuthuthukisa izinguquko rahitopodobnyh e bone izicubu.

syndrome Fanconi ezinganeni kuvamile kakhulu kunakubantu abadala. Ngokwezibalo, isifo kwesifo 1: 350 000 ezizalwa ziphila. Uhlushwa kokubili abafana namantombazane ngezabelo alinganayo.

Izimpawu Fanconi syndrome

Lesi sifo ingaqala ngasiphi yobudala, kodwa ngokuvamile kakhulu ubonakala ezinsaneni. Glycosuria, giperaminoatsiduriya generalized futhi giperfosfaturiya - lokhu triad izimpawu libhekene Fanconi syndrome. Thuthukisa izinkomba ezisheshe zivele ngokwanele. Okokuqala, abazali uqaphela ukuthi ingane yabo iqala zishobinge kaningi, futhi kuba njalo womile. Izingane, yebo, awukwazi ukusho ngamagama, kodwa ngokuziphatha kwabo ezingezwakali futhi nqabela unomphela ebeleni noma ibhodlela kuba sobala ukuthi ingane ukuthi kukhona okungalungile.

Esikhathini esizayo, abazali kuletha asemrarweni causeless njalo ukuhlanza, ukuqunjelwa isikhathi eside Paranormal imfiva. Ngokuvamile, kulesigaba, ingane ekugcineni ongayibona udokotela. Kuvele wezingane abanolwazi Bangase basole ukuthi umkhuhlane luyinhlanganisela izimpawu akubukeki njenge. Uma udokotela ngeke zikwazi ukufunda nokubhala, kusho ukuthi sekuyisikhathi sokuba bakwazi ukuqaphela Fanconi syndrome.

Izimpawu Okwamanje musa zinyamalale. Bona ungeze lag olubonakalayo ekuthuthukiseni ngokomzimba nangokwengqondo, kukhona ugobile evelele lamathambo ezinkulu. Ngokuvamile izinguquko ezithinta kuphela izitho ephansi, okuholela ukusonteka of varus noma valgus hlobo. Esimweni sokuqala, imilenze womntwana okokusonteka isondo, okwesibili - ngesimo uhlamvu u- "X". Futhi yena nabanye kukho, yebo, ezikahle ze ukuphila okwengeziwe ingane.

Fanconi sifo ngo izingane ngokuvamile kuhlanganisa kwamathambo (Ukubhujiswa kwanoma ithambo izicubu), kanye abalulekile ukukhula retardation. Hhayi ngaphandle waphuka of eside amathambo ijabulise nokukhubazeka. Ngisho noma kuze kube manje abazali kungukuthi ngokuthi isimo umntwana ke kulesi sigaba, kungukuthi ncamashi give up bezokwelapha abanekhono.

Fanconi sifo ngo abadala akuvamile. Into wukuthi lokhu isifo esiyingozi kuholela ekuthuthukiseni ukwehluleka kwezinso. Esimweni esinjalo akunakwenzeka ukunikeza noma yimuphi umhlahlo esiqondile ukuqinisekisa enkulu bempilo. Lezo zincwadi uchaza izimo lapho eneminyaka engu-eminyakeni 7-8 Fanconi syndrome abamiswa ezindaweni zabo, aba ngcono olubonakalayo isimo somntwana ngisho ukwelapha. Ngeshwa, ukuhlukahluka okunjalo practice zamanje ezingajwayelekile ngokwanele ukuze ukwazi ukwenza noma yimaphi iziphetho sina.

Ukuxilongwa Fanconi syndrome

Ngaphandle anamnesis nokuhlolwa olunzulu udokotela kufanele akhethe ezinye survey, ukuvumela ukuqinisekisa sifo. Fanconi syndrome nakanjani kuholela ukuphazamiseka izinso, futhi ngaleyo ndlela kufanele kube urinalysis njalo. Yiqiniso, lokhu akwanele ukuhlonza zonke izici zalesi sifo. Kuyadingeka ukubona nje kuphela okuqukethwe amaprotheni ku umchamo kanye amangqamuzana amhlophe egazi, kodwa futhi azama ukuthola lysozyme, immunoglobulin, ayisiza kanye nezinye izinto. Uhlaziyo Kwembula wokuqukethwe eliphezulu ngempela ushukela (glucosuria), phosphate (phosphaturia) zizobonakala ekulahlekelweni abalulekile izinto ezibalulekile emzimbeni. Ukuzihlola okunjalo engenziwa njengenhlangano sinenkonzo yokunakekela iziguli emakhaya noma esibhedlela.

futhi ayinakugwenywa izinguquko ezithile ukuze ukuhlolwa igazi. Lapho ukuhlaziywa kwamakhemikhali wabonisa ukunciphisa abalulekile cishe zonke izakhi mkhondo (ikakhulukazi calcium ne phosphorus). Utfutfukisa evelele lactic umzimba, kwaphazamiseka operation evamile wonke umzimba.

lwamathambo esimweni show kwamathambo (bone ekubhujisweni), kanye ukusonteka yezingalo nemilenze. Ezimweni eziningi waphawula zisale ijubane ukukhula amathambo begazi yobudala iphutha yabo. Uma kudingekile, Udokotela angase anikeze isiguli ultrasound izinso kanye nezinye izitho zangaphakathi kanye luhlolo ochwepheshe ahlobene.

ukuxilongwa umehluko

Kukhona amacala lapho ezinye izifo beziguqula Fanconi syndrome. Ngaphambi udokotela kuphakamisa umsebenzi onzima ukuthola ukuthi kwenzekani isiguli kancane empeleni. Glyukoaminofosfatdiabet ngezikhathi kudidaniswe pyelonephritis ezingamahlalakhona kanye nezinye izifo kwezinso. Izinguquko Ezenzeka urinalysis, kanye izici nolokubhujiswa ithambo izicubu kuzosiza udokotela ukubeka uphethwe yini.

Fanconi sika Syndrome Ukwelashwa

It kuyafaneleka ukucabangela iqiniso lokuthi lesi sifo esingelapheki. Kunzima ukuthola ngokuphelele lahlani izimpawu ezingemnandi ukuthi kungaba isikhashana ukunciphisa izimpawu zesifo. Yini umuthi okhona njengesilwane aid izingane ezigulayo?

Endaweni yokuqala kukhona ekudleni. Iziguli Kunconywa ukhawule ukusetshenziswa usawoti, kanye nazo zonke ukudla oyingozi futhi ngabhema. Ukudla engeza ubisi neziphuzo zezithelo ezihlukahlukene amnandi. Ungakhohlwa mayelana ukudla abacebile potassium (asithena, amabhilikosi omisiwe namagilebhisi omisiwe). Esimweni lapho kwamaphutha Micronutrient ifinyelele sikhathi esibucayi, odokotela linqume reception ekhethekile Vitamin izakhiwo.

Against isizinda Ukudla iqondiswa ebulilini isimo kavithamini D. isiguli njalo elibukhali - anakho ngezikhathi ukunikeza ukuhlolwa kwegazi kanye nomchamo. Lokhu kuyadingeka ukuze ngesikhathi esifanele ukubona ukuqala hypervitaminosis nokwehlisa umthamo kavithamini D. Ukwelashwa eside, izifundo ezingaphezu, ngekhefu. Ezimweni eziningi, lokhu ukwelashwa kusiza ukubuyisela umzimba okhathazekile futhi kuvimbele eziyingozi.

Uma lesi sifo usehambile, isiguli luwele ezandleni nodokotela. wamathambo abanolwazi uzokwazi uyozilungisa ithambo deformity futhi ukwenza ngcono izimpilo zezingane. imisebenzi enjalo abathola isahlulelo kuphela endabeni ukuthethelelwa esiqhubekayo eside: engengaphansi kwengu eyikhulu nengxenye.

ukuba nombono ongafani ngeke

Ngeshwa, onalesi sifo ngoba kulezi ziguli okungekuhle. Ezimweni eziningi, le sifo sanda kancane kancane, ekugcineni okuholela nokwehluleka ukusebenza kwezinso. Deformation lamathambo nakanjani kuholela ekutheni ukukhubazeka kanye Ukuwohloka kwezinga lempilo labantu.

Ungakugwema yini kulumkhuhlane? Ngokungangabazeki, lokhu umbuzo ekujabulisayo wonke umuntu ihlangabezane Fanconi syndrome. Abazali zama ukuqonda ukuthi yini abayenza engalungile nokuthi engagcini ingane. Kubaluleke ngokufanayo ukwazi ukuthi nesimo esisongela uphinda nezinye izingane. Ngeshwa, izinyathelo okwamanje athuthukile. Imibhangqwana ehlela uthole enye ingane, kubalulekile ukuba uthintane isazi sezakhi zofuzo ukuze uthole olunye ulwazi ephathelene nezinto ezibakhathazayo.

Wissler Syndrome - Fanconi (subsepsis iguliswa)

It wachaza lesi sifo kuphela izingane ezineminyaka engu-4 kuya kwezingu-12. Isizathu salokhu izifo ezimbi namanje akwaziwa. Kunengqondo ukuphetha ngokuthi lokhu syndrome yisimo isifo ejwayelekile sokuhlasela kwamasosha omzimba, a uhlobo oluthile rheumatoid arthritis. Njalo iqala babazi, nge lokushisa kuyanda, elikwaziyo ukubamba emavikini sibalo 39 degrees. Kuzo zonke izimo, kukhona ukuqubuka polymorphic ku nasemilenzeni futhi ngezinye izikhathi ebusweni, esifubeni noma esiswini. Yokutakula ngokuvamile kwenzeka ngaphandle eziyingozi. Nokho kwezinye seziguli ezisencane ekugcineni ukuthuthukisa umonakalo ezinzima ngokuhlanganyela okuholela ekukhubazekeni.