Kuyini nobuntu Fanconi Syndrome? Izimbangela, Izimpawu, Sifo

Lesi sifo kwase kuqala esachazwa udokotela wezingane Swiss Toni Debre Fanconi, ngubani unomdlavuza isifo ingane ngo-1931. Ngo isifo lokhu kadokotela esachazwa kancane, kancane kancane kokuveza izimpawu ezithile kanye izakhi syndrome, uthishanhloko lapho kufanele kubhekwe glycosuria (glucose in khona umchamo) kanye albuminuria (ukubukeka amaprotheni ku umchamo).

Izimbangela Fanconi syndrome

Ngokuvamile lesi sifo yesibili, bese bedlulela kanye nezinye izifo. Ngezinye izikhathi kuyenzeka ukuthi Fanconi syndrome iyona isifo esikhulu kulokhu ingazuzwa futhi ngofuzo. Izizathu kungaba:

• amaphutha esizalwa nawo wokuhle umzimba;
• ubuthi by izinsimbi ezisindayo noma ezinobuthi (mercury, okuhola tetracycline imisiwe);
• ukubukeka izimila kanye komdlavuza (izinhlobo ezihlukahlukene zomdlavuza);
• nokuntuleka kavithamini D.

Ngezinye izikhathi like syndrome singenzeka njengoba inkinga ngemva ukusha noma ezinye izifo kwezinso. syndrome Fanconi kwabesifazane kungase kubangelwe izinkinga ukungalingani hormone kuphakama emva kokubeletha.

Izimpawu main

Izimpawu yalesi sifo iyashiyana engu-isiguli. Kubantu abadala izimpawu zokuqala izilonda nezifo kuyindlela: ukuchama ngokweqile, ukuba buthakathaka kwezicubu nobuhlungu amathambo namalunga. Lo mphumela alichaza yokuthi lesi sifo singumbulali ukushoda womuntu acute izakhi (i-sodium, i-potassium, i-calcium).

Fanconi syndrome yingozi ikakhulukazi izingane, ngoba kungabangela umonakalo ongalungiseki isakhiwo umzimba abasha. Ngokuvamile e seziguli ezisencane ukuthuthukiswa yamathambo, ubambezela nemisipha ampofu, okuyinto ngenxa yokuntuleka namaminerali abalulekile. Lesi sifo eziyinkimbinkimbi kungaba ngokuphawulekayo ukunciphisa izinga amasosha omzimba umntwana, okwenza kube usengozini yokuthola izifo ezithathelwanayo.

Nokho, kwezokwelapha uqukethe izibonelo lapho iziguli bobudala obungefani, ayengenazo izimpawu zokwelashwa Fanconi syndrome. Kulokhu, eziphethweni eziqinisekile zingenziwa kuphela imiphumela yegazi kanye nomchamo.

Izindlela ukuxilongwa

Qinisekisa khona yalesi sifo ngo-isiguli etholwe ngosizo oluthile nophenyo laboratory uketshezi (umchamo futhi igazi), kanye ngosizo-X-ray Ukuhlola amathambo namalunga. Ngokuvamile, ihlaziya ibalazwe ebonisa khona pathologies ezithile e-biochemistry. Ukuze Fanconi Syndrome libhekene:

• wehlise izinga calcium ne phosphorus egazini;
• ukwephulwa zokuthutha izinhlelo ku tubules kwezinso (okuholela ekulahlekeni alanine, glycine futhi proline);
• lactic umzimba (ukwehla igazi Bicarbonate lokuhlushwa).

Fanconi syndrome Kungahlonzwa ngomshini ngosizo kumadivayisi ekhethekile, njengemishado X-ray. Kulokhu uphenyo iziyaluyalu bone ukusonteka futhi emikhawulweni iyonke. Nokho, akubona bonke iziguli unezimpawu ezifanayo, ngakho ukuhlolwa laboratory kufanele kubhekwe indlela eziqinile ukuthola lesi sifo.

Izindlela ukwelapha isifo

Ngenxa yokuthi lesi sifo kubangela umonakalo omkhulu kuya acid-base futhi electrolyte ibhalansi emzimbeni, isu ukwelashwa kufanele okuhloswe ngazo kokulungisa lezi izinkomba. Iziguli bayakhuthazwa phuza uketshezi, ukudla okukhethekile, okukuvumela ukuba ubuyisele ezingeni izakhi ilahlekile (calcium ne phosphorus) kanye kavithamini D.

Ngakho-ke kubalulekile ukuba umuntu ahlukanise phakathi ukwelashwa non-kwemithi ye Fanconi syndrome. Uhlobo lokuqala kusekelwe ukusetshenziswa amalungiselelo equkethe Vitamin D3. Ukusetshenziswa leli qembu kuholela ekwandeni okuqukethwe phosphorus kanye le-calcium egazini. Lapho lezi yizinkomba ukufinyelela emazingeni evamile, Vitamin kufanele inqanyulwe.

ukwelashwa izidakamizwa kusekelwe yokwelapha Ukudla, okuyinto kuyehla kube ukhawule ukusetshenziswa isilinganiso sikasawoti kanye nokudla ukuthi ezingabangela ukulahleka kokuphila sulphur amino acid. Lapho ukwephula pH-ibhalansi (lactic), izinyathelo ezinjalo kungase kungabi ngokwanele, ukuze iziguli ebekiwe ezengeziwe imithi izifundo.

Ukubikezela kanye nokuvinjelwa kwezifo

Isibikezelo Fanconi syndrome Ihlobene ngokuseduze okuvela ezinkingeni ezihlobene nokusebenza kwezinso. Lokhu kuvezwa obala ngesimo ukwephula parenchyma kwezinso (izicubu ethize umboza umzimba). Lezi zinguquko kungabangela ukubukeka pyelonephritis futhi ukwehluleka kwezinso.

izindlela Zokuzivikela kulokhu iyefana indlela yokwelashwa non-izidakamizwa: isiguli kumele njalo sigcinwe okuqukethwe Ukudla kwezakhi ezithile namaminerali.

Ukuba khona kwalesi sifo izihlobo kanye namalungu omndeni kungase kubonise ukudluliselwa kwawo ngayo esizukulwaneni esisha, ngoba Fanconi syndrome - kuba kuyisifo esiwufuzo. Uma ukuxhumana anjalo ngempela adingekayo ukuqhuba ngokujulile ihlaziya of egazi noma omchamo ezinganeni.

syndrome Fanconi e izinja

Njengoba lesi sifo hhayi umphumela umthelela third-party amagciwane kanye amagciwane, ukubamba kwabo ku abezindaba akunakwenzeka. Lesi sifo kungenzeka kube umphumela ubuthakathaka sokugembula we nezinso kubantu abathile. Futhi izilwane, kuyafaneleka, okungenani ngo izinja ukuthi nginesifo lesi sifo, futhi.

Ukuba khona anjalo sifo ngo izinja kwatholakala kungakadluli izifo human elihambisana. Noma kunjalo, abasakwazi ezifanayo izici zabo.

Akuwona wonke izinhlobo of izinja ehlaselwe lesi sifo. Yena Kwabonakala beagles, whippets futhi Norwegian amaphiva izinja. Ngokuvamile ngomshini bezilwane e basenji Fanconi syndrome, omunye izinhlobo endala izinja.

Umthelela yalesi sifo emzimbeni inja

Njengoba kunjalo nalo muntu, lesi sifo ushaya izinso wesilwane. Uyahlupheka ezingeni umsoco egazini futhi umchamo avele ezingezona ezemvelo-medium compounds namaminerali. izinja umzimba uqala ngokuthini lo amino acid kanye amavithamini, kanye endleni, okuholela iziyaluyalu kwemisipha izitho.

ukuvezwa kwesikhathi eside lesi sifo kungaholela okungazelelwe kwesisindo, amanzi emzimbeni sesilwane, ngisho nokufa. imisipha izinja kancane kancane siqale yoma ngenxa yokuntuleka inani elidingekayo izidakamizwa egazini, ngakho isilo nesineke ayisasebenzi.

Izimpawu yalesi sifo isifo e izinja

Izimpawu eyinhloko lesi sifo kufanele kubhekwe ngokweqile uketshezi eyanele, futhi njengoba ezinkulu. umzimba Animal uzama ukubuyisela ibhalansi amanzi, okuholela i okungenamsoco unomphela exchange uketshezi.

Phakathi inja iqala ukuba anciphise umzimba, ngisho ne supply njalo futhi uchichima. Kukhona nezinwele, amandla ukulahlekelwa, futhi ukuhamba. Izilwane ezigulayo bangazizwa ubuhlungu emalungeni namathambo. Kuyaphawuleka ukuthi lesi sifo ngokuvamile kubonakala hhayi kusaqalwa ukuphila inja (njengoba kuqhathaniswa indoda), kodwa endaweni ethile phakathi, ekupheleni umjikelezo wokuphila (phakathi 5th kanye ngonyaka wesi-7). Ukuze basenji kulonyaka kubalulekile ikakhulukazi, ngoba ezingaphezu kuka-50% izinja uqale abanezifo efanayo ngesikhathi esinikeziwe. Ngakho-ke, abanikazi lokhu zohlobo kufanele niqaphele kakhulu ukuze ukubikezela ukubukeka lesi sifo.

Test umaki izinja syndrome

Lokhu uphenyo lakhiwe ososayensi ngoJulayi 2007. It ikuvumela ukuba abone isakhi sofuzo esiyimbangela yalesi okuvela Fanconi sifo ngo izinja. Kulesi isilwane uvivinyo lungase lube nhlobo ematfuba isifo kungaba isifo noma inkampani yenethiwekhi langempela ukuba nabantu abacabanga kanjalo.

Kennels Iningi lalabo abagcina izinja zezinhlobo ezithile, yiba arsenal yabo ubuchwepheshe ezinjalo evumela ukuthi abathengi uthembele yokufuna umdlwane enempilo. Kuyathakazelisa ukuthi i-intanethi iqukethe lonke database, amelela nomdlwana olubhalisiwe kuyo ahlukahlukene kanye imiphumela yokuhlola esimweni ngasinye.

I Onjiniyela yokuhlaziya laboratory kusikisela ukuthi isivivinyo akuyona inkomba ocacile yokuchayeka umdlwane ukuze isifo. Noma kunjalo, u-90% yi itholakala iyiqiniso.

I eponymous syndrome Wissler-Fanconi

Wissler-Fanconi sifo ngo izingane yisifo ayinakho maqondana isifo, okuxoxwe ngazo kulesi sihloko. Lokhu zokugula kungabonakala nasemkhakheni ingane iphakathi kweminyaka engu-eminyakeni emithathu kuya kweziyisikhombisa, nakuba kukhona zibhalwa amacala ngalesi sifo, futhi kusukela isencane (cishe ngo ngesonto lokuqala ukuphila).

Lesi sifo kwatholakala ngodokotela Wiesler futhi Fanconi ngezikhathi ezihlukene futhi ezingxenyeni ezihlukahlukene zomhlaba, yingakho ibizwa ngokuthi, iqukethe amagama odokotela ababili, hhayi Wissler Syndrome noma Fanconi syndrome. Izithombe othumele kulesi sihloko sibonisa kahle izimpawu zesifo, okungukuthi komzimba. Ngaphezu kwalokho, izinga lokushisa ingane nesineke kungase kukhule, nezihlanganiso ngokuvamile uqala ubuhlungu futhi azihlanganise. ukwelashwa Inxanxathela kuhilela ukusetshenziswa kwemithi elwa namagciwane futhi salicylates.