Fanconi ka maʻi pale: Symptoms,ʻike, a me ka iapaau ana

Maʻi pale De Toni - Debreu - Fanconi mea he nui congenital maʻi wehewehe aku ma keʻano o metabolic kāna hana. Ka mea, e ae aku ka hapanui keiki o ka makahiki mua o ke ola. IeAUPIIe, IAa IO ia lŘlŘ ka hoʻohui pū 'ia me nā hereditary abnormalities, akā, hiki ke hoike like me ka standalone maʻi pale.

A manawa pōkole moʻolelo

I ka maʻi iʻike a? Anoee ia ma 1931 ma Dr. Fanconi o Kuikilana. Ina hookolokolo ke keiki me rickets, pōkole ke kino o Iesu, a me ka loli ma ka urinalysis, ka mea i manao ai, keia hui malu pu ana o ka hiʻona e e noʻonoʻo me ka hookaawale pathology. Mau makahiki ma hope, de Ka Hui hoʻolauna na hoololi i hoʻohuiʻia i ka na ano hypophosphatemia, a ma hope o ka manawa Debra hōʻike 'ia ma kēia mau hoʻomanawanui iki mai acidaminuria.

Ma Lūkini moʻokalaleo, ua kapaia keia kulana i nā hua'ōlelo "he hereditary maʻi pale De Toni - Debreu - Fanconi 'a' glyukoaminofosfatdiabet". Wale aku no, ka mea, ua pinepine kapaiaʻaʻa puʻuwai Fanconi maʻi pale.

Nā kumu o Fanconi maʻi pale

Ma ka manawa, ka mea, ua i hiki a ka hopena, e huli mai ka mea ke kumu o keia nui maʻi. Fanconi maʻi pale uaʻaʻa lākou e ia i ka aaiaoe maʻi. Poe akamai i manaoio i ka ulu ana o keia maʻi mea ku pono i ka wahi mutation, a hiki aku i ka malfunction o nā puʻupaʻa. He haʻawina i hoopaa ia i ke kino o ka 'aʻe' ana i ke kelepona hele pūnao. He hiki i ka mea 'ole adenosine triphosphate (ATP) - he hui i Radio nui i kūlana ma ka ikehu pūnao. E like me ka hopena o ka pololei ole ana o na nā'ūhū nalowale monakō koko,'amino nāʻakika, phosphates, a me ka ole emi maikaʻi kēia waiwai. Ma ia heʻoʻoleʻa papaʻaʻa puʻuwai tubules i loaa i ka pono ikehu no kā lākou hana. Pono keia mau mea waiwai i hōʻike pū me ka mimi, pepe pūnao hoʻomōhala rahitopodobnyh loli ma ka iwi'aʻaʻa.

Fanconi maʻi pale i na keiki he nui aku, he pono ole ma mua i loko o nā mākua. Wahi a ka 'ikepili helu, maʻi mea hiki wale mai ka 1: 350 000 ola hanau. E ae mai nā keiki kāne a me nā kaikamāhine ma ka like huliāmahi.

Na hoailona o Fanconi maʻi pale

Ka maʻi hiki hoʻomōhala i kekahi mau makahiki, akā, loa pinepine ka mea, ua ike i loko o na kamalii uuku. Glycosuria, generalized giperaminoatsiduriya a me ka giperfosfaturiya - keia triad o symptoms wehewehe aku e Fanconi maʻi pale. Ulu ka symptoms kakahiaka nui iho la ia. Mua o nā mea a pau, na makua hai i kā lākou keiki hoʻomaka e hemo hou pinepine, a me ia mea mau make wai. Ke keiki, o ka papa, hiki ole ke olelo ia i loko o nā'ōlelo, akā, ma kā lākou mau capricious hana a me ka mau ahau ma ka umauma a me ka hue ia lilo'ē aʻe i ke keiki i kekahi mea i hewa.

I ka wā e hiki mai, mākua lawe mai i ka puu o ka pilikia pinepine causeless ka luaʻi, hooloihiia constipation a me paranormal kuni. Nō kāu, ma keia ke kahua, i ke keiki hope loaʻa, e ike i ke kauka. An inā pilikia ka haumāna pediatrician i hāʻupu aʻe i ka pono anu mea he huihui 'ana o symptoms, aole ia e nana e like. I Ina i ke kauka e e literate, ia ka manawa e e hiki keʻike Fanconi maʻi pale.

Symptoms manawa mai i nalo. Ka mea hou i kekahi 'lag i loko o ke kino a me ka noʻonoʻo' ana, eia nō i curvature o ka iwi nui. IeAUPIIe, IAa IO loli lakou aloha ia wale i ka lalo lala, kūpono ma ka deformation o varus a valgus type. Ma ka hihia mua, ua haika ka pēpē i ka wāwae huila, i loko o ka lua - i loko o ka palapala o ka palapala "X". Aʻo ia, a me ka 'ē aʻe koho, o ka papa, maikaʻi no ka mea hou ke ola o ke keiki.

Fanconi maʻi pale i loko o nā keiki pinepine mai nā 'osteoporosis (premature loa ia'na o ka iwi'aʻaʻa), e like meʻiʻo ulu retardation. 'Aʻole i hoʻokoe' fractures o lōʻihi omo iwi a me ka lōlō. A hiki ina hiki i keia manawa i ka makua mea i hoohihiaia e pili ana i ka moku'āina o ke keiki, alaila, i keia kahua, aole lakou eʻaʻole pono e haawi i akamai malama.

Fanconi maʻi pale i loko o nā mākua mea pohihihi keia. Ka mea mea i keia mea he maʻi nui maoli ai hele aku ai a hiki i ka ulu ana o kaʻaʻa puʻuwai ole. Ma ia wahi, i hiki ia mea hiki ole ke haawi aku i kekahi definite kēla a hōʻoia i ka mea i oi aku ke ola expectancy. Ke moʻokalaleo wehewehe hihia ia i ka makahiki o ka 7-8 makahiki Fanconi maʻi pale lawe ko lakou wahi, i kekahi 'hana i loko o ke ano i ke keiki ka a hiki hoola. Eia naʻe, ua likeʻole i kaʻikena me ka hana pono e pohihihi lawa ia e hiki ke hana i kekahi hopena a nui.

ʻike, a Fanconi maʻi pale

Ma waho anamnesis a me ka hoʻokolokolo pono ninaninau o ke kauka ua koi 'ia e koho i kekahi ana, hiki e hōʻoia i ka maʻi. Fanconi maʻi pale inevitably hele aku ai i ka hoʻohuikau 'o ka hakuʻala, a pela pono ia he mau urinalysis. O ka holo ana, i kēia mea,ʻaʻole i lawa ke kuhikuhi i nā mea a pau o nā hiʻona o ka maʻi. He mea pono e ike ole wale i ka maʻiʻo o kumuʻiʻo i loko o ka mimi, a keʻokeʻo koko keena, akā, i ho'āʻo e huai ae lysozyme, immunoglobulins a me nā waiwai. Ka Ikepili i hoikeia he kiʻekiʻe ka maʻiʻo pono kōpaʻa (glucosuria), phosphates (phosphaturia) e e hiki i kaʻiʻo lilo o ka nui waiwai no ke kino. Oia ka hookolokolo hiki ke hana me ka outpatient paha i loko o ka haukapila.

kekahi inevitable kekahi loli i ke koko e ho'āʻo ai. I ka biochemical Ka Ikepili i hōʻike nui ka ho'ēmiʻana i loko o aneane pau kumumea oihana mua (o ka oi aku kalipuna a me ka phosphorus). E hoʻomōhala ana i haʻi metabolic acidosis, keakea e ia me ka mea maʻamau hana o ka a pau meaola.

skeletal radiography hōʻike osteoporosis (iwi ka make), a me ka deformation o na lala. Ma ka hapanui o na hihia i ka nānā mau lag ka uuku ae la mai o ka ulu ana o ka iwi a me kā lākou liluwelo makahiki discrepancy. Inā pono, ke kauka i hoakaka ia ultrasound o nā puʻupaʻa, a me na nā loko, e like me keia hookolokolo ana ma nā 'Oihana.

palena pauʻike,

Aia nā hihia o kekahi mau maʻi'ē aʻe hoʻohālike me Fanconi maʻi pale. Ma mua o ke kauka ke hoala mai i ka paakiki hana e loaʻa mai mea hana i ka mea uuku ahonui nae. Glyukoaminofosfatdiabet kēlā wā i kēia wā pioloke me ka maʻi pyelonephritis a me nāʻaʻa puʻuwai maʻi. Loli ma ka urinalysis, e like me ka ano o ka make o ka iwi'aʻaʻa, e kōkua i ka pediatrician, e kau i ka pololeiʻike.

Fanconi ka maʻi pale iapaau ana

He waiwai e noonoo pono i ka mea i ka maʻi, he maʻi. He paʻakikī i ka loa e pohaku uinihepa, o ka meaʻawaʻawa loa symptoms i hiki wale ia no kekahi manawa, e emi i ka symptoms o ka maʻi. He aha ke ano o kekahi laekahi lapaau me he kōkua i ka maʻi keiki?

Ma ka wahi mua ma laila mea i kaʻai. Nā mea maʻi i waiho e kali i ka hoʻohana 'ana o ka paakai, e like me nā mea a pau huʻi, a pakaʻai. Keʻai hui ka waiu a me ka likeʻole huaʻala Piʻihonua. Mai poina e pili ana i ka ʻai i ka mea waiwai ma ka potasiuma (e paʻipaʻi i, maloo apricots a me nā hua waina). Ma ka hihia ma ka micronutrient ia wā i hiki aku ai i ka pilikia ke kahua, kauka i hoakaka ia? Eaia kūikawā wikamina eiiieaenu.

E kū'ē i ke kāʻei kua o kaʻai lawelawe kiʻekiʻe nā māhele o ka wikamina D. hoomanawanui ka ana ua mau ua hoʻonānā - he mai ka manawa i ka manawa, e haawi aku ke koko a me ka mimi ho'āʻo ma. He mea pono i ka mea ana i nā manaʻoi hoʻokoe 'huai ae hoʻomaka ana hypervitaminosis a emi i ka mahele lāʻau o ka wikamina D. lapaʻau lōʻihi, oi papa, me ka, mai hemo mai. Ma ka hapanui o hoopii, keia Inc e kokua i ka meaʻehaʻeha pūnao e hoihoi a me ka pale complications nui.

Inā ka maʻi i hala aku, i ka hoʻomanawanui hina i loko o ka lima o ka surgeons. Inā pilikia ka haumāna orthopedic e e hiki ke straighten mai i ka iwi deformity, a hoʻoikaika i nā ola o nā keiki me ka nui loa. Na hana i hana wale i loko o ka hihia o ka paakiki a me ka lōʻihi-manawa e kalaia mai ai: i emi ma mua o kekahi, a me ka hapa makahiki.

Outlook

Eia naʻe, i ka prognosis no kēia e hoomanawanui i noho lakou malaila. Ma ka hapanui o na hihia, ka maʻi progresses lohi, e ho'ōla e alakai i ka hakuʻala ole. Deformation o nā iwi inevitably alakai i kīnā o ke kino, a me ka mea hōʻemi o ka nohona ma Hawaiʻi nei.

E hiki anei ia oe loaʻa i kēia maʻi? Oiaio no, ua ninau excites a pau i loaʻa i ka Fanconi maʻi pale. Makua ho'āʻo mea a lakou i hana hewa, a ma kahi e malama i ke keiki, e maopopo. He like nui e ike ina paha ke kulana Hoʻoweliweli 'o ia i ka hou a me nā keiki'ē aʻe. Eia naʻe, kāohi ana i ole a ianoiyuaa a? Ac?. Couples hoʻolalaʻo e kiʻi i kekahi keiki, ia mea e pono ia e nīnau aku i ka geneticist no ka 'ike hou aku e pili ana i kā lākou mau mea e hopohopo nei.

Wissler ka maʻi pale - Fanconi (allergic subsepsis)

Ia i ho'ākāka 'ia i kēia maʻi wale nō i loko o na keiki mai ka 4 a hiki i 12 makahiki. Ke kumu no keia maʻi nui ua nō ike ole. Mākou ke kuhi i keia maʻi pale mea he typical autoimmune maʻi, he mau palapala o rheumatoid arthritis. Mau helu kuhi puke ke hākilo loa, me ka wela ala, i hiki paʻa pule ma ka huahelu 39 degere. Ma na hihia a pau, aia no he polymorphic poʻe noʻonoʻoʻole ma luna o ka lala a me kekahi manawa ma luna o ka maka, pahu paha abdomen. Loaa ana ia lŘlŘ me kekahi hoʻoponopono complications. Aka, i loko o kekahi mau keiki nā mea maʻi e ho'ōla hoʻomōhala loa ami poino e alakai i ka kīnā o ke kino.