Syndrome Fanconi esithi: Iimpawu, diagnosis and Treatment

Syndrome De Toni - Debreu - Fanconi sisifo kakhulu naso iphawulwa ezahlukeneyo ukuphazamiseka metabolic. Ziphila ikakhulu abantwana kunyaka wabo wokuqala bezelwe. Ngokuqhelekileyo eyenzeka idityaniswe nezinye makhwiniba ilifa, kodwa ngazo njenge syndrome yakuma wedwa.

Imbali emfutshane

Isifo uyaziwa kwaye bafunda nguGqirha Fanconi of Switzerland ngo-1931. Ukuhlola umntwana yamathambo, omfutshane ngesithomo, kunye notshintsho urinalysis, wagqiba kwelokuba Ngokudibanisa le mpawu zizakujongwa njengo ngezifo eyahlukileyo. Kwiminyaka emibini kamva, de Tony laqalisa izilungiso idityaniswe inkcazelo hypophosphatemia ekhoyo, yaye emva kwethuba Debra ezichongiweyo kwezi zigulane acidaminuria.

Xa iincwadi Russian, le meko ibizwa ngokuba amagama "a syndrome njengelifa De Toni - Debreu - Fanconi 'yaye' glyukoaminofosfatdiabet". Phesheya, ide ibizwe ngokuba sezintso Fanconi syndrome.

Ubangelwa Fanconi syndrome

Okwangoku, akuzange kube lula kude kube sekupheleni ukuze ufumanise ukuba yintoni na isiseko sesi sifo kakhulu. Fanconi syndrome uthathwa ukuba nesifo yemfuza. Iingcali zikholelwa ukuba uphuhliso esi sifo kungenxa kuguquka point, nto leyo ekhokelela ukungasebenzi le izintso. izifundo ezininzi baye baqinisekisa ukuba umzimba kukwaphula ukutya yeselula. Kusenokwenzeka ukuba eneneni ababandakanyekayo adenosine triphosphate (ATP) - yikhompawundi odlala indima ebalulekileyo ukutya eneji. Ngenxa yokusebenza esingachanekanga enzayim glucose ezilahlekileyo, acid, phosphate, kunye nezinye izinto akukho luncedo kangako. Kwindawo ebandayo enjalo tubules sezintso kwamkela amandla ayimfuneko ukuze umsebenzi wabo. izinto eziluncedo eboniswe kunye nomchamo, ukutya eyaphukileyo ukuphuhlisa utshintsho rahitopodobnyh kwi kwezihlunu ithambo.

syndrome Fanconi kubantwana kakhulu kuxhaphake kakhulu kunokuba abantu abadala. Ngokutsho manani, iqondo sifo-1: 350 000 ziphila. Bayahlupheka ukusuka zombini amakhwenkwe kunye namantombazana enkulu ngokulinganayo.

Iimpawu ze Fanconi syndrome

Esi sifo ukuphuhlisa nanini na ubudala, kodwa kaninzi ke ibonwa kwiintsana. Glycosuria, giperaminoatsiduriya ngokubanzi giperfosfaturiya - eli oneziqu iimpawu luphawulwa Fanconi syndrome. Ukuphuhlisa kwangethuba iimpawu. Kuqala kwinto zonke, abazali uphawula ukuba umntwana wabo uqala ukuchama rhoqo, kwaye usoloko onxaniweyo. Abantwana, Kakade, akakwazi bathi ngamazwi, kodwa ukuziphatha kwabo abangenazigqibo kunye ngumkhenkce isigxina ibele okanye ibhotile kuyacaca ukuba umntwana ukuba kukho into engalunganga.

Kwixesha elizayo, abazali kuzisa kwiinkathazo elimsulwa rhoqo ukugabha, ukuqhina elide kunye nobani nomkhuhlane. Ngokuqhelekileyo, kwesi sigaba, umntwana ekugqibeleni ufumana ukubona ugqirha. An sezifo onamava Basenokukrokrela ukuba ingqele eqhelekileyo yintlanganisela iimpawu alibonakali kanje. Xa ugqirha uya kuba ukufunda nokubhala, ngoku lixesha lokuba abe nako ukuqonda Fanconi syndrome.

Iimpawu kweso musa shwaka. Besithi ukuqhwalela olubonakalayo uphuhliso ngokwasemzimbeni nasengqondweni, kukho ugobile ngokukhawuleza amathambo ezinkulu. Ngokuqhelekileyo tshintsho luchaphazela kuphela nemilenze, nto leyo deformation of varus okanye valgus uhlobo. Kwimeko yokuqala, imilenze zosana ukuba ejijekileyo ivili, elinesibini - ngokohlobo le leta "X". Ke yena omnye ukhetho, Kakade, ithembisa ukuba ubomi ngakumbi lo mntwana.

Fanconi syndrome e abantwana badla liquka kwamathambo (intshabalalo ngaphambi esiqwini bone), kwakunye abazizidalwa ngokukhula ebalulekileyo. Not ngaphandle kwamathambo elide amathambo tubular kunye nokukhubazeka. Kwanokuba kude kube ngoku abazali ayinandaba malunga nemeko usana, ngoko kweli nqanaba, azikho ncam ancame care abanezakhono.

Fanconi syndrome abadala kunqabile. Eyona nto kukuba esi sisifo esibi kukhokelela ngokwendalo kuphuhliso ukusilela kwezintso. Kwimeko enjalo akunakwenzeka ukunika naluphi na uqikelelo article nokuqinisekisa omkhulu sokuphila. Le ncwadi ichaza iimeko xa eneminyaka engama-7-8 Fanconi syndrome ezindaweni zabo, ukuphucuka olubonakalayo imeko yomntwana kwaye nokuphilisa. Ngelishwa, oomahluko loo nto ngoku zinqabile ngokwaneleyo ukuze abe nako ukwenza naziphi na izigqibo ezinzulu.

Uxilongo lwe Fanconi syndrome

Ngaphandle anamnesis kunye noviwo ngokucokisekileyo ugqirha kufuneka amisele olunye uhlolisiso, uvumela ukuqinisekisa esi sifo. Fanconi syndrome nakanjani kubangela uphazamiseko kidney, yaye kufuneka ibe urinalysis rhoqo. Kakade ke, oku ngokwaneleyo ukuchonga zonke iimpawu zesi sifo. Kuyimfuneko ukubona kuphela isiqulatho iiprothini umchamo kunye iiseli ezimhlophe zegazi, kodwa zama ukubona lysozyme, immunoglobulins kunye nezinye izinto. Uhlalutyo ngokusichazela enesiqulatho eliphezulu ngokuyimfuneko iswekile (glucosuria), phosphate (phosphaturia) iya kubonakala kubo nelahleko ebonakalayo kwezinto ezibalulekileyo umzimba. Eso uviwo iya kwenziwa ukuba sisigulana sangaphandle okanye esibhedlele.

nayo idale utshintsho iimvavanyo kwegazi. Xa Uhlalutyo ezinto kuboniswe ukuncitshiswa ebalulekileyo phantse konke okuphathelene iziqalelo (ingakumbi calcium phosphorus). Phuhlisa zicaca lactic metabolic, ukusebenza kunye nokusebenza eqhelekileyo yonke eziphilayo.

skeletal ray show kwamathambo (intshabalalo bone), kwaye deformation ngayo imilenze. Kwiimeko ezininzi waphawula lag isantya sokukhula amathambo kunye nobudala ukungangqinelani ababazalayo. Ukuba kuyimfuneko, ugqirha unakho ukumisela ultrasound izintso namanye amalungu angaphakathi, kwakunye iimviwo ngamagcisa ezinxulumeneyo.

diagnosis umehluko

Kukho iimeko xa ezinye izifo ukuzenza Fanconi syndrome. Phambi kokuba ugqirha kuphakamisa umsebenzi kunzima ukufumana ukuba kwenzeka ntoni na isigulane encinane ngokwenene. Glyukoaminofosfatdiabet bedidekile wambi kunye pyelonephritis ezingapheliyo kunye nezinye izifo sezintso. Utshintsho urinalysis, kwakunye neempawu wentshabalalo esiqwini ithambo kuya kunceda sezifo ukubeka uxilongo echanekileyo.

Fanconi kaThixo Syndrome Treatment

Kubalulekile ukuqwalasela into yokuba esi sifo esingapheliyo. Kunzima ukufumana ngokupheleleyo, lahlani iimpawu ezibi kuphela ixesha elithile ukunciphisa iimpawu zesi sifo. Yintoni amayeza mihla njengoncedo abantwana abagulayo?

Kwindawo yokuqala kukho yokudla. Izigulane ziyakhuthazwa ukunciphisa ukusetyenziswa ityuwa, ngokunjalo zonke ukutya oyingozi futhi ndatshaya. Yokudla kongeza ubisi kunye neziqhamo ezahlukeneyo ayo amnandi. Musa ukulibala malunga ukutya zityebi potassium (uyawathena, nezo ziqwayitiweyo kunye neerasentyisi). Kwimeko apho ukunqongophala kwezakha ifikelele kwinqanaba ezibalulekileyo, amagqirha ukumisela ukwamkelwa ezizodwa nezakhiwo vitamin.

Ngokuchasene imvelaphi yokutya ezilawulwa ngeedosi eziphezulu imeko novithamini D. yesigulane uhlala esweni - anayo amaxesha ngamaxesha ukunika igazi nomchamo uvavanyo. Oku kuyimfuneko ukuze babone ngexesha hypervitaminosis ukuqala nokunciphisa ithamo ivithamini D. Unyango elide, izifundo ezininzi, kunye ikhefu. Kwiimeko ezininzi, oku unyango kunceda ukubuyisela nethe waphazamiseka ukuthintela iingxaki ezinzulu.

Ukuba isifo sele ihambile, isigulana iwela ezandleni oogqirha. wezamathambo abanamava baya kuba nako kuzityeneneza le ukukhubazeka ithambo kwaye kakhulu ukuphucula ubomi babantwana. imisebenzi enjalo ziqhutywa kuphela kwimeko kuxolelwe zokunyanzelisa ixesha elide: akukho ngaphantsi kweminyaka enye enesiqingatha.

Outlook

Ngelishwa, le ALS kwezi zigulane ezimbi. Kwiimeko ezininzi, isifo siqhubela ngokucotha, ekugqibeleni kukhokelela ukusilela kwezintso. Deformation amathambo ekugqibeleni kukhokelela nokukhubazeka kunye kukwehla komgangatho lempilo.

Unokukuphepha njani kwesi sifo? Akuthandabuzeki ukuba, lo mbuzo Iyandonwabisa bonke abathi bafumana i Fanconi syndrome. Abazali zama ukuqonda oko benza okubi yaye apho ukugcina umntwana. Kubalulekile ukwazi ukuba ingaba imeko okubeka phinda kunye nabanye abantwana. Ngelishwa, amanyathelo othintelo akukho okwangoku kuphuhliswa. Couples abaceba ukufumana omnye umntwana, kuyimfuneko ukuba umntu onjalo zofuzo ukuze ufumane inkcazelo engakumbi malunga ezibaxhalabisayo zabo.

Wissler kaThixo syndrome - Fanconi (subsepsis komzimba)

Sasichaza esi sifo kuphela abantwana ukusuka kwiminyaka-4 ukuya ku-12. Isizathu sokuba esi sifo kakhulu nangoku ayaziwa. Kuthathwa ukuba lo sifo sisifo ekuqhelekileyo samathambo, uhlobo oluthile isifo samathambo. Soloko iqala wayibona, kunye lobushushu suka, leyo ukubamba iiveki nani degrees 39. Kuzo zonke iimeko, kukho amaqhakuvana polymorphic phezu imilenze kwaye ngamanye amaxesha ebusweni, esifubeni okanye isisu. Indawo yoBuyiselo-ngokuqhelekileyo kwenzeka ngaphandle naziphi na iingxaki ezinzulu. Kodwa kwizigulana ezithile abaselula ekugqibeleni ukuphuhlisa umonakalo omkhulu ngokudibeneyo ezikhokelela nokukhubazeka.