Fanconi ta ciwo: Bayyanar cututtuka, bincike da kuma magance

Syndrome De Toni - Debreu - Fanconi ne mai tsanani nakasar cuta halin da iri-iri na rayuwa cuta. Sun sha wahala mafi yawa yara na shekarar farko ta rayuwa. Yakan auku a hade tare da sauran hereditary munanan, amma za a iya bayyana a matsayin standalone ciwo.

A takaice dai tarihi

Cutar da aka gano da kuma karatu a shekarar 1931 da Dr. Fanconi na Switzerland. Nazarin wani yaro da rickets, short jiki, da kuma canje-canje a urinalysis, ya ƙarasa da cewa wannan hade da siffofin da ya kamata a gani a matsayin mai raba Pathology. Bayan shekaru biyu, de Tony gabatar da gyara kara zuwa data kasance bayanin hypophosphatemia, kuma bayan wani lokaci Debra gano a cikin wadannan marasa lafiya acidaminuria.

A Rasha adabi, wannan yanayin da ake kira da sharuddan "wani hereditary ciwo De Toni - Debreu - Fanconi 'da kuma' glyukoaminofosfatdiabet". A} asashen waje, shi ne sau da yawa kira na koda Fanconi ciwo.

A Sanadin Fanconi ciwo

A lokacin, shi ba zai yiwu ba har sai karshen don gano abin da shi ne tushen wannan tsanani cuta. Fanconi ciwo ne da kwarewarsa, ya zama wani kwayoyin cuta. Masana sun yi imani da cewa ci gaba da wannan cuta ne saboda wani batu maye gurbi, wadda take kaiwa zuwa malfunction da kodan. Da yawa karatu sun tabbatar da cewa jiki ne mai take hakkin salula metabolism. Yana yiwuwa cewa a gaskiya da hannu adenosine triphosphate (ATP) - a fili cewa tana taka muhimmiyar rawa a cikin makamashi metabolism. A sakamakon ba daidai ba aiki na enzymes rasa glucose, amino acid, phosphates, da kuma sauran babu kasa amfani abubuwa. A irin wannan matsananci yanayi na koda tubules ba sama da zama dole makamashi domin su aiki. Amfani da abubuwa suna nuna tare da fitsari, karye metabolism ci gaba rahitopodobnyh canje-canje a cikin kashi nama.

Fanconi ciwo a yara ne ya fi yawa fiye da a manya. Bisa kididdigar da, cuta ya faru ne 1: 350 000 live haihuwar. Sha daga duka maza da mata a daidai rabbai.

Ãyõyin Fanconi ciwo

Da cutar zai iya ci gaba a kowane zamani, amma mafi sau da yawa shi ne gani a jarirai. Glycosuria, jimlace giperaminoatsiduriya da giperfosfaturiya - wannan triad na bayyanar cututtuka halin da Fanconi ciwo. Ci gaba da bayyanar cututtuka farkon isa. Da farko, da iyaye lura cewa yaro zai fara zuwa urinate mafi sau da yawa, kuma shi ne kullum m. The yara, ba shakka, ba zai iya ce da shi a cikin kalmomi, amma da su capricious hali da kuma m daskare a kan nono ko kwalban da shi ya zama na fili da cewa yaro da cewa wani abu ne ba daidai ba.

A nan gaba, iyaye kawo mai yawa matsala m causeless amai, tsawo maƙarƙashiya kuma paranormal zazzabi. Yawanci, a wannan mataki, da yaro karshe samun ganin likita. An gogaggen pediatrician yi zargin cewa kowa sanyi ne mai hade da bayyanar cututtuka ba kama. A yanayin da likita zai zama ilimi, shi ne lokacin da za a iya gane Fanconi ciwo.

Alamun halin yanzu ba bace. Sun kara da cewa wani m fada a jiki da hankulansu ci gaba, akwai pronounced curvature daga manyan ƙasũsuwa. Yawancin lokaci canje-canje shafi kawai ƙananan wata gabar jiki, sakamakon nakasawa da cirewa zuwa tsakiya ko valgus irin. A farkon yanayin, da baby ta kafafu suna juya dabaran, a karo na biyu - a cikin irin harafin "X". Kuma ya da sauran wani zaɓi, ba shakka, m ga m rai na yaro.

Fanconi ciwo a yara sau da yawa ya hada osteoporosis (wanda bai kai halakar kashi nama), kazalika da gagarumin ci gaban da retardation. Ba a cire samu karaya na dogon tubular ƙasũsuwa da inna. Ko da idan har yanzu da iyaye ba su damu game da jihar na baby, sa'an nan a wannan mataki, suna ba daidai ba up gwani kula.

Fanconi ciwo a manya ne rare. The abu ne cewa, wannan shi ne wani tsanani cuta ta halitta take kaiwa zuwa cin gaban na koda gazawar. A irin wannan halin da ake ciki ba shi yiwuwa a bayar da wani tabbataccen forecast da kuma tabbatar da wata gagarumar rayuwar jama'a. A adabi bayyana lokuta idan yana da shekaru 7-8 shekaru Fanconi ciwo dauki matsayi, wani m kyautata a cikin yaro ta yanayin da ko da warkar. Abin takaici, irin bambancin a halin yanzu yi ne m isa ya iya yin wani tsanani karshe.

Ganewar asali Fanconi ciwo

Bayan anamnesis da kuma wani na sosai jarrabawa na likita ake bukata sanya wasu safiyo, kyale su tabbatar da cuta. Fanconi ciwo babu makawa take kaiwa zuwa rushewa daga cikin koda, kuma ta haka ne dole ne su kasance a yau da kullum urinalysis. Hakika, wannan bai isa ya gano duk na fasali da cutar. Wajibi ne a gani ba kawai da abun ciki na gina jiki a cikin fitsari da fari da maikacin jini, amma kuma kokarin gane lysozyme, immunoglobulins da sauran abubuwa. A analysis kuma saukar da wani babban abun ciki dole sugar (glucosuria), phosphates (phosphaturia) zai zama a bayyane zuwa ga wani gagarumin asara da muhimmanci abubuwa ga jiki. Irin wannan jarrabawa za a iya yi a matsayin outpatient ko a wani asibiti.

ma makawa wasu canje-canje ga jini gwaje-gwaje. Lokacin da biochemical bincike ya nuna gagarumin raguwa a kusan dukan alama abubuwa (musamman alli da phosphorus). Tasowa pronounced rayuwa acidosis, tsoma baki tare da al'ada aiki na dukan kwayoyin.

kwarangwal radiography show osteoporosis (kashi halaka), da kuma nakasawa da wata gabar jiki. A mafi yawan lokuta da ya lura nawa da taki na ci gaba da ƙasũsuwa da, da nazarin halittu shekaru, sãɓã wa jũnamai. Idan dole, likita zai iya rubũta duban dan tayi da kodan da kuma sauran kayan ciki, kazalika da jarrabawa ta related kwararru.

bambanci ganewar asali

Akwai lokuta idan wasu sauran cututtuka masquerading kamar yadda Fanconi ciwo. Kafin likita kiwata mai wuya aiki don gano abin da zai faru ga kadan haƙuri a zahiri. Glyukoaminofosfatdiabet lokaci-lokaci gauraye da kullum pyelonephritis da sauran koda cututtuka. Canje-canje a urinalysis, kazalika da halaye na lalata kashi nama zai taimaka da pediatrician a saka daidai ganewar asali.

Fanconi ta ciwo Jiyya

Yana da daraja idan akai la'akari da gaskiyar cewa cutar ne na kullum. Yana da wuya gaba daya ya rabu da mu da m bayyanar cututtuka da za su iya kawai zama don wani lokaci don rage bayyanar cututtuka da cutar. Abin da ya aikata wani zamani magani a matsayin agaji ga m yara?

A farko wuri a can ne rage cin abinci. Marasa lafiya suna shawarar rage yin amfani da gishiri, kazalika da dukan m da kuma kyafaffen abinci. A rage cin abinci ƙara madara da kuma daban-daban 'ya'yan zaki juices. Kada ka manta game da abinci da suke da arziki a cikin potassium (prunes, bushe apricots da zabibi). A cikin akwati inda micronutrient, ƙarara kai m mataki, likitoci rubũta liyafar musamman bitamin gidaje.

Kan bango na rage cin abinci gudanar high allurai bitamin D. haƙuri da yanayin ne kullum da sanya idanu - yana daga lokaci zuwa lokaci ba jini da fitsari gwaje-gwaje. Wannan shi ne zama dole domin ya dace gane fara hypervitaminosis da kuma rage kashi na bitamin D. Jiyya tsawo, mafi Darussan, tare da karya. A mafi yawan lokuta, wannan far taimaka wajen mayar da damuwa metabolism da kuma hana tsanani da rikitarwa.

Idan cutar ta tafi, da haƙuri da dama a hannun likitoci. Gogaggen orthopedic za su iya daidaita fitar da kashi nakasar da muhimmanci inganta rayuwar yara. Irin yadda ake gudanar kashe kawai a yanayin saukan m da kuma dogon lokacin gafarta musu: babu kasa da daya da rabi shekaru.

Outlook

Abin baƙin ciki, da hangen nesa ga wadannan marasa lafiya ya fi karfinsu. A mafi yawan lokuta, cutar progresses sannu a hankali, ƙarshe manyan zuwa koda gazawar. Nakasawa da ƙasũsuwa babu makawa kai ga tawaya da kuma tabarbarewar da] aukacin halin rayuwar.

Za ka iya kauce wa wannan cuta? Lalle, wannan tambaya murna duk wanda ya ci karo da wani Fanconi ciwo. Iyaye kokarin fahimtar abin da suka aikata ba daidai ba kuma inda ba ci gaba da yaro. Shi ne daidai da muhimmanci a san ko da halin da ake ciki ya razana wani sake tare da sauran yara. Abin baƙin ciki, m matakan da aka ba a halin yanzu ci gaba. Ma'aurata shirin samun wani yaro, shi wajibi ne don tuntubar wani jini don ƙarin bayani game da su damuwa.

Wissler ta ciwo - Fanconi (rashin lafiyan subsepsis)

Yana bayyana wannan cuta kawai a yara daga 4 zuwa shekaru 12. Dalilin wannan tsanani cutar har yanzu ba a sani ba. Za mu iya ɗauka cewa wannan ciwo ne na hali autoimmune cuta, wani nau'i na musamman rheumatoid amosanin gabbai. Koyaushe fara sa samun abinci, tare da zazzabi Yunƙurin, wanda zai iya rike makonni a kan adadi 39 digiri. A dukkan lokuta, akwai wani polymorphic rash a kan wata gabar jiki da kuma wani lokacin a kan fuskarsa, kirji ko ciki. Farfadowa da na'ura yakan auku ba tare da wani tsanani da rikitarwa. Amma duk da haka, a wasu matasa marasa lafiya ƙarshe ci gaba mai tsanani hadin gwiwa da lalacewar manyan zuwa tawaya.