Syndrome o Fanconi: tohu, Te tātaritanga me te rongoā

Syndrome De Toni - Debreu - Fanconi ko te mate congenital kino āhuatanga e te momo o disorders pūkoro tinana. mamae ratou te nuinga tamariki a te tuatahi o nga tau o te ora. Ko te tikanga puta i roto i ngā ki ētahi atu abnormalities tuku, engari ka taea e faaite mai i rite te syndrome tūkotahi.

He hītori poto

I kitea te mate, me te ako i roto i te 1931 e Dr. Fanconi o Switzerland. Wherawhera i te tamaiti ki te kōiwi, poto roa, me ngā rerekētanga i roto i te urinalysis, faaoti ia e kia kia whakaaro tenei huinga o ngā āhuatanga rite te māuiuitanga motuhake. E rua tau i muri mai, de Tony whakaurua nga whakatikatika tapiritia ki te hypophosphatemia whakaahuatanga ngā, me muri i te ia Debra tāutuhia i roto i enei tūroro acidaminuria.

I roto i te tuhinga Russian, huaina tenei huru ko te ngā "he syndrome tuku De Toni - Debreu - Fanconi 'me' glyukoaminofosfatdiabet". Abroad, Kei te maha huaina reira tākihi syndrome Fanconi.

Ko te take o Fanconi syndrome

I te kau, e kore ia e taea te tae noa te mutunga ki te kitea i roto i te mea ko te pūtake o tenei mate kino. pokanoa syndrome Fanconi te ki kia he mate ira. Tohunga whakapono e te whanaketanga o tenei mate ko e tika ana ki te irakētanga ira, e tika ana ki te arā o nga whatukuhu. Kua whakapumautia rangahau maha e te tinana ko te takahi o te pākia e pūtau. Ko taea e i roto i te meka whai wāhi triphosphate adenosine (ATP) - he pūhui e whai wāhi nui i roto i te pākia pūngao. Ka rite ki te hua o te mahi hē o te whākōkī kūhuka ngaro, waikawa amino, phosphates, me ētahi atu matū kahore iti whaihua. I roto i te taua taiao pakeke kore tubules tākihi riro te pūngao tika mo ratou mahi. Kei te whakaaturia tahi matū whai hua ki mimi, pākia pakaru whakawhanake huringa rahitopodobnyh i roto i te wheua kiko.

Ko nui atu noa atu i roto i ngā pakeke syndrome Fanconi i roto i ngā tamariki. E ai ki ngā tatauranga, mate pā he 1: 350 000 whakatupuranga ora. Tukua i mau tamaroa e rua me nga kotiro i roto i te ōrite ana ngā wehenga.

Tohu o Fanconi syndrome

Ka taea e te mate te whakawhanake i tetahi tau, engari te nuinga o maha e kitea i te reira i roto i nga kohungahunga. Glycosuria, giperaminoatsiduriya te whakatakiruatanga o me te giperfosfaturiya - tenei topu- o tohumate āhuatanga e Fanconi syndrome. Te whakawhanake tohumate wawe nui. Tuatahi o te katoa, kite nga matua e haamata ratou tamaiti ki te mimi atu maha, a ko reira tonu matewai. Ko nga kuao, o te akoranga, e kore e taea e te mea te reira i roto i nga kupu, engari na to ratou whanonga-feliliuaki me Freeze tūturu i runga i te uma te pounamu ranei riro te reira kitea e te tamaiti e he he te tahi mea.

I roto i te heke mai, te mau metua hopoi mai te rota o te raruraru noa i auau ruaki, kōroke roa me te paranormal kirika. Tikanga, i tenei wā, te tamaiti i te pae hopea whiwhi ki te kite i te tākuta. kia whakapae He tākuta tamariki mātanga e te matao noa ko te huinga o ngā tohu e kore e titiro rite. I roto i te take ka kia pukapuka te tākuta, he reira wa ki te taea ki te mohio ki Fanconi syndrome.

Tohu kore takiwa e ngaro. tapiritia ratou he takamuri kitea i roto i te whanaketanga ā-tinana, me te hinengaro, i reira he curvature korerotia o wheua nui. Ko te tikanga pā huringa nga wahi o raro anake, hua i roto i te deformation o varus valgus ranei momo. I roto i te take tuatahi, e whiria waewae o te tamaiti wira, i roto i te tuarua - i roto i te puka o te pukapuka "X". Na ia me te tahi atu kōwhiringa, o te akoranga, pai mo te ora atu o te tamaiti.

Fanconi syndrome i roto i ngā tamariki maha ngā osteoporosis (whakangaromanga taimi halá, o te wheua kiko), me te retardation tupu nui. Ehara i waho piere o te roa wheua tubular me te pāpāngia. Ahakoa, ki te tae noa nei kahore e hoha'a nga mātua e pā ana ki te āhua o te tamaiti, na i tenei wā, kei te kore rite hoatu ratou ake tiaki mohio.

Fanconi syndrome i roto i ngā pakeke he onge. Ko te mea, ko te e he tenei he mate nui fakanatula arata'i ki te whanaketanga o te täkihi. I roto i te āhuatanga i taua e kore e taea ki te hoatu i tetahi matapae tino, me te whakarite i te nui tümanako ora. whakaahua ana i te tuhinga take ka i te tau o 7-8 tau Fanconi syndrome tango ratou tūranga, he whakapai ake kitea i roto i te huru o te tamaiti, me te noa whakaora. Kia aroha mai, He onge nui ki te taea ki te hanga i tetahi whakatau nui taua rerekētanga i roto i te mahi o nāianei.

Tātaritanga o Fanconi syndrome

Haunga anamnesis me te hi'opo'a maitai o te tākuta e hiahiatia te ki whakarite etahi rangahau, tuku ki te whakaū i te mate. Fanconi syndrome e arata'i ki te rangirua o te tākihi, a ko te kupu kia he urinalysis auau. O te akoranga, e kore he nui ki te tautuhi i te katoa o nga āhuatanga o te mate tenei. He mea tika ki te kite kore anake te ihirangi o te pūmua i roto i te mimi me te ma ngā pūtau toto, engari ano hoki tamata ki te kitea lysozyme, immunoglobulins me ētahi atu matū. whakakitea ano te tātari te ihirangi tiketike tika huka (glucosuria), phosphates (phosphaturia) ka kia kitea ki te mate nui o ngā matū nui mo te tinana. Ka taea te whakamana he whakamātautau te hunga i te tūroro ranei i roto i te fare ma'i.

mooni ko etahi huringa ki whakamātautau toto hoki. A, no te tātari matüora tohu whakaiti nui i roto i tata katoa huānga wahi (rawa konupūmā me te ūkuikui). Whakawhanake korerotia acidosis pūkoro, pokanoa ki te mahi noa o te rauropi katoa.

osteoporosis Radiography whakaatu kōhiwi (wheua whakangaromanga), me te deformation o nga wahi. I roto i te nuinga o te wā takamuri te i kitea ai te tere o te tupu o wheua, me ratou rerekētanga tau koiora. Ki te tika, kia whakahau i te tākuta ultrasound o nga whatukuhu, me te tahi atu whekau, me te whakamātautau i ngaio e pā ana.

tātaritanga pārōnaki

He take ka etahi atu mate e whakaahua rite Fanconi syndrome. I mua i te tākuta whakaara ake he mahi uaua ki te kitea i roto i te mea tupu ki te manawanui iti rawa. Glyukoaminofosfatdiabet wā raruraru ki pyelonephritis ma'i, me te tahi atu mate tākihi. Huringa i roto i te urinalysis, me te te āhuatanga o te whakangaromanga o te wheua kikokiko e tauturu i te tākuta tamariki ki te hoatu i te tātaritanga tika.

a Fanconi Syndrome Treatment

Ko reira utu whakaaro i te meka e he ma'i te mate. He uaua ki te tino te pehea o nga tohu kino e taea anake e hoki etahi wa ki te whakaiti i nga tohu o te mate. He aha e te rongoā hou hei āwhina ki ngā tamariki e mate ana?

I roto i te wahi tuatahi i reira ko te kai. E tūtohutia tūroro ki te whakawhāiti i te whakamahi o te tote, me te kai whakapeka me he paowa katoa. Te kai tāpiri waiu, me te ngā hua he inu reka. Kaua e wareware e pā ana ki te kai e te hunga taonga i roto i te pāhare pāporo (maha, maroke āperekoti me karepe). I roto i te take i reira tae nga hē Micronutrient te atamira tino, rata whakahau fariiraa motuhake complexes huaora.

Ki te whakamārama o te kai whakahaere pota tiketike o te huru huaora D. manawanui o te aroturukitia tamau - kua ia i te wa wa ki te hoatu whakamātautau toto me te mimi ki. Ko te tika tenei i roto i te tikanga ki te wā kitea tīmata hypervitaminosis me te whakaiti i te horopeta o huaora D. Treatment roa, atu akoranga, me ngā wehenga. I roto i te nuinga o te wā, tauturu tenei therapy ki whakahoki te pākia raruraru, me te ārai i pōauautanga nui.

Ki te haere atu te mate kua, taka te manawanui ki nga ringa o tākuta. Ka taea ki te tika i roto i te hira wheua, me te tino whakapai ake i te ora o ngā tamariki orthopedic mātanga. E mahi ana taua ngā mahi anake i roto i te take o te murunga wā-roa tamau, me: kahore iti iho i te tau kotahi, me te hawhe.

outlook

Kia aroha mai, te waitohunga mo enei tūroro kino. I roto i te nuinga o te wā, kauneke āta te mate, pea fakaiku ai ki te hēnga o ōna whatukuhu. Deformation o wheua te taniwha, arahi ki te hauātanga, me te ino o te kounga whānui o te ora.

Ka taea e koe te karo i tenei mate? Te feaa, i ngā tenei pātai katoa e tūpono te syndrome Fanconi. tamata te mau metua ki te matau te mea i he, me te wahi e kore e puritia e te tamaiti ratou. He mea rite nui ki te mohio ranei fakamanamanai te āhuatanga he tukurua ki te tahi atu mau tamarii. Kia aroha mai, e kore e whakawhanakehia āraihia tēnei wā. Couples whakamahere ki te tiki i tetahi tamaiti, ko reira e tika ana ki te kōrero i te geneticist mō ētahi atu pārongo e pā ana ki o ratou āwangawanga.

syndrome o Wissler - Fanconi (subsepsis pāwera)

whakaahuatia te reira i tenei mate anake i roto i ngā tamariki i te 4 ki te 12 tau. E kore te te take mo tenei mate nui mohiotia tonu. Ka taea e tatou amo i taua tenei syndrome ko te mate autoimmune angamaheni, he ahua ngā o te kaikōiwi. tīmata tonu te ume nei, ki te pāmahana ara, e taea te pupuri wiki i runga i ahua 39 nekehanga. I roto i te wā katoa, i reira te mea he ohorere Polymorphic i runga i nga wahi me ētahi wā i runga i te mata, uma puku ranei. te tikanga puta Whakaora kahore tetahi pōauautanga nui. Otiia i roto i te tahi mau tūroro taitamariki pae hopea whakawhanake kino tahi kino ārahi ki te hauātanga.