Fanconi Syndrome Yog Dab Tsi?

Zoo Siab

• Cov tsos mob ntawm Fanconi syndrome
• Ua rau mob Fanconi syndrome
• Txais FS
• Nrhiav FS
• Kev kuaj mob ntawm tus mob ntawm Fanconi syndrome
• Cov menyuam mos thiab menyuam yaus uas tau txais FS
• Nrhiav FS
• Hom misdiagnoses
• Kev kho mob ntawm Fanconi syndrome
• Kev kho tus mob cystinosis
• Nrhiav FS
• Outlook rau Fanconi syndrome

Txheej txheem cej luam

Fanconi syndrome (FS) yog ib qho kev tsis txaus ntseeg uas cuam tshuam rau cov hlab lim dej (lub cev tub ntxhais nyob ntev) ntawm lub raum. Kawm paub txog ntau qhov sib txawv ntawm lub raum thiab saib daim duab ntawm no.

Feem ntau, qhov sib thooj tubules rov ua dua lub pob zeb cov zaub mov thiab cov khoom noj khoom haus (cov khoom noj khoom haus) rau hauv cov hlab ntshav uas tsim nyog rau kev ua haujlwm zoo. Hauv FS, qhov sib thooj tubules sib thooj tso tawm ntau ntawm cov khoom tseem ceeb no rau hauv cov zis. Cov tseem ceeb muaj xws li:

• dej
• piam thaj
• ntsev
• bicarbonates
• carnitine
• poov tshuaj
• uric acid
• amino acids
• qee cov protein

Koj lub raum lim tawm txog li 180 litres (190.2 quarts) kua rau ib hnub. Ntau tshaj li 98 feem pua ​​ntawm qhov no yuav tsum rov nkag mus rau hauv cov ntshav. Qhov no tsis yog FS. Qhov ua kom tsis muaj cov metabolites tseem ceeb tuaj yeem ua rau lub cev qhuav dej, lub cev pob txha deformities, thiab tsis ua haujlwm kom tsis muaj zog.

Nws muaj cov kev kho mob uas tuaj yeem ua rau qeeb lossis tsis tuaj yeem hloov kho FS.

FS feem ntau muaj kev sib txuas. Tab sis nws kuj tuaj yeem tau los ntawm qee cov tshuaj, tshuaj, lossis kab mob.

Nws tau lub npe tom qab Swiss pediatrician Guido Fanconi, uas tau piav qhia qhov tsis meej nyob rau xyoo 1930. Fanconi kuj tau piav thawj zaug txog ua muaj ntshav tsawg, Fanconi anemia. Qhov no yog ib qho mob sib txawv nkaus uas tsis cuam tshuam nrog FS.

Cov tsos mob ntawm Fanconi syndrome

Cov tsos mob ntawm kev tau txais FS tuaj yeem pom thaum ntxov thaum tseem yog menyuam yaus. Lawv suav nrog:

• nqhis dej ntau dhau
• ntev mus tso zis
• ntuav
• tsis ua hauj lwm kom vam meej
• kev loj hlob qeeb
• qaug zog
• rickets
• cov leeg tsis muaj leeg
• corneal txawv txav
• mob raum

Cov tsos mob ntawm kis tau FS suav nrog:

• mob pob txha
• leeg tsis muaj zog
• muaj ntshav phosphate tsawg (hypophosphatemia)
• cov ntshav qab zib ntau ntau (hypokalemia)
• ntau cov amino acids nyob rau hauv cov zis (hyperaminoaciduria)

Ua rau mob Fanconi syndrome

Txais FS

Cystinosis yog qhov nquag muaj rau FS. Nws yog ib yam mob muaj tsawg. Hauv cystinosis, cystine amino acid ntau thoob plaws lub cev. Qhov no ua rau muaj kev ncua qeeb thiab muaj kev tsis sib haum xeeb, xws li pob txha deformities. Feem ntau thiab mob hnyav (txog 95 feem pua) ntawm daim cystinosis tshwm sim hauv cov menyuam mos thiab koom nrog FS.

Kev tshuaj xyuas xyoo 2016 kwv yees 1 nyob rau ntawm txhua 100,000 txog 200,000 tus menyuam mos yug tshiab muaj cystinosis.

Lwm yam kab mob muaj cov kab mob metabolic uas tuaj yeem koom nrog FS suav nrog:

• Lowe syndrome
• Wilson's kab mob
• niam txiv muaj txoj kev sib yuav tsis sib haum xeeb

Nrhiav FS

Qhov ua rau kis FS yog muaj sib txawv. Lawv suav nrog:

• raug rau qee tus kws khomob kho
• siv cov tshuaj tiv thaiv kab mob
• siv cov tshuaj tiv thaiv kab mob

Cov mob phiv los ntawm cov tshuaj kho yog qhov tshwm sim feem ntau. Feem ntau cov tsos mob tuaj yeem kho lossis thim rov qab.

Qee zaum kuj tsis paub meej tias vim li cas FS thiaj li tsis paub.

Cov tshuaj anticancer cuam tshuam nrog FS suav nrog:

• ifosfamide
• cisplatin thiab carboplatin
• azacitidine
• mercaptopurine
• suramin (tseem siv los kho cov kab mob cab)

Lwm cov tshuaj ua rau FS hauv qee tus neeg, nyob ntawm kev ntau npaum li cas thiab lwm yam mob. Cov no suav nrog:

• Tas caij nyoog tetracyclines. Cov khoom tawg ntawm cov tshuaj tua kab mob tas sij hawm hauv tsev neeg tetracycline (anhydrotetracycline thiab epitetracycline) tuaj yeem ua rau cov tsos mob FS hauv hnub.
• Tshuaj tua kab mob Aminoglycoside. Cov no suav nrog gentamicin, tobramycin, thiab amikacin. Txog 25 feem pua ​​ntawm cov neeg kho nrog cov tshuaj tua kab mob no tsim muaj cov tsos mob FS, sau tseg hauv kev tshuaj xyuas xyoo 2013.
• Anticonvulsants. Valproic acid yog qhov ua piv txwv.
• Antivirals. Theseinclude didanosine (ddI), cidofovir, thiab adefovir.
• Fumaric acid. Cov tshuaj no kho cov kab mob ua paug.
• Ranitidine. Cov tshuaj no saib xyuas mob ua paug.
• Boui-ougi-tou. Nov yog Suav tshuaj siv rau kev rog.

Lwm yam mob cuam tshuam nrog cov tsos mob FS suav nrog:

• muaj mob ntev, haus cawv heev
• kua nplaum sniffing
• raug rau cov hlau hnyav thiab cov tshuaj ua haujlwm
• muaj vitamin D tsis txaus
• raum hloov chaw
• ntau myeloma
• amyloidosis

Lub tshuab tseem ceeb koom nrog FS tsis tau txhais tau meej.

Kev kuaj mob ntawm tus mob ntawm Fanconi syndrome

Cov menyuam mos thiab menyuam yaus uas tau txais FS

Feem ntau cov tsos mob ntawm FS tshwm sim thaum ntxov thaum tseem yau thiab thaum yau. Cov niam txiv yuav pom tias kev nqhis dej ntau dhau lossis qeeb dua qhov kev loj hlob ib txwm muaj. Cov menyuam yuav muaj teeb meem rickets lossis raum.

Koj tus menyuam tus kws kho mob yuav xaj kuaj ntshav thiab zis mus kuaj xyuas seb puas muaj tej yam txawv txav, xws li ntshav qabzib ntau ntau, phosphates, lossis amino acids, thiab lwm yam kev muaj peev xwm. Tej zaum lawv yuav kuaj cystinosis los ntawm kev saib tus menyuam lub ntsej muag nrog lub teeb ntais. Qhov no yog vim cystinosis cuam tshuam lub qhov muag.

Nrhiav FS

Koj tus kws kho mob yuav nug txog koj lossis koj tus menyuam li keeb kwm kev mob, nrog rau cov tshuaj uas koj lossis koj tus menyuam noj, lwm yam kab mob, lossis kev ua haujlwm. Lawv kuj yuav tuaj kuaj ntshav thiab kuaj ntshav.

Hauv FS kis, koj yuav tsis pom tus mob tshwm sim sai. Cov pob txha thiab raum tej zaum yuav raug puas tsuaj los ntawm kev kuaj mob thaum kuaj pom.

Txais FS tuaj yeem cuam tshuam cov tib neeg lub hnub nyoog.

Hom misdiagnoses

Vim tias FS yog qhov tsis tshua muaj tshwm sim li no, cov kws kho mob yuav tsis paub nrog nws. FS kuj tseem yuav tshwm sim nrog rau lwm yam kab mob tsis tshua muaj mob, xws li:

• cystinosis
• Wilson's kab mob
• Mob hniav
• Lowe syndrome

Cov tsos mob yuav yog los ntawm cov kab mob uas paub ntau dua, suav nrog mob ntshav qab zib hom 1. Lwm qhov ua txhaum cai suav nrog rau cov hauv qab no:

• Lub cev tsis loj hlob tuaj yeem yog los ntawm cystic fibrosis, kev noj zaub mov tsis txaus, lossis ib lub qog ua ntshav.
• Cov rickets tuaj yeem yog vim muaj cov vitamin D tsis txaus lossis hom roj ntsha ntawm cov rickets.
• Kev mob raum tuaj yeem raug ntaus rau vim yog kev mob mitochondrial los yog lwm yam kab mob tsawg.

Kev kho mob ntawm Fanconi syndrome

Kev kho mob ntawm FS nyob ntawm nws qhov mob hnyav, ua rau, thiab muaj lwm yam kab mob. FS tsis tuaj yeem kho kom zoo ib txwm, tab sis cov tsos mob tuaj yeem tswj tau. Cov kev kuaj mob thiab kho mob thaum ntxov, kev pom zoo dua qub.

Rau cov menyuam yaus uas muaj caj ces FS, thawj kab kev kho mob yog los hloov cov tshuaj tseem ceeb uas raug muab tshem tawm los ntawm lub raum uas puas lawm. Hloov cov tshuaj no yuav yog los ntawm qhov ncauj lossis los ntawm infusion. Qhov no suav nrog hloov ntawm:

• electrolytes
• bicarbonates
• poov tshuaj
• Vitamin D
• xov
• dej (thaum tus me nyuam lub cev qhuav dej)
• lwm yam minerals thiab as-ham

Kev noj zaub mov kom muaj lub cev tsis zoo yog txhawm rau kom tswj kev loj hlob kom raug. Yog tias tus menyuam cov pob txha tsis ua haujlwm, cov kws saib xyuas lub cev thiab cov kws kho pob ntseg tshwj xeeb tuaj yeem hu.

Lub xub ntiag ntawm lwm cov kab mob caj ces tej zaum yuav xav tau kev kho mob ntxiv. Piv txwv li, kev noj zaub mov kom me me yog qhov zoo rau cov neeg uas muaj tus mob Wilson.

Hauv cystinosis, FS raug daws nrog kev hloov pauv raum raws li lub raum tsis ua haujlwm lawm. Qhov no suav hais tias yog kev kho mob rau lwm tus mob, es tsis yog kho rau FS.

Kev kho tus mob cystinosis

Nws yog ib qho tseem ceeb kom pib kho sai li sai tau rau cystinosis. Yog tsis kho tus mob FS thiab mob cystinosis, tus menyuam yuav muaj mob raum thaum nws muaj 10 xyoo.

Tsoom Fwv Teb Chaws Asmeskas Khoom Noj thiab Tshuaj tau pom zoo ib cov tshuaj uas txo cov cystine hauv hlwb. Cysteamine (Cystagon, Procysbi) tuaj yeem siv nrog menyuam yaus, pib nrog kev txhaj tshuaj qis thiab ua haujlwm nce siab rau kev saib xyuas txij nkawm. Txoj kev siv nws yuav ncua qhov xav tau lub raum hloov 6 mus rau 10 xyoo. Txawm li cas los xij, cystinosis yog ib hom mob. Nws yuav ua teeb meem nrog lwm yam hauv nruab nrog cev.

Lwm yam kev kho rau cystinosis suav nrog:

• cysteamine qhov muag poob los txo cystine tso nyiaj rau ntawm lub qhov muag
• kev loj hlob hormone hloov
• raum hloov ntshav

Rau cov menyuam yaus thiab lwm tus nrog FS, yuav tsum muaj kev tshuaj xyuas tas mus li. Nws kuj tseem ceeb heev rau cov neeg muaj FS kom ua raws nraim li lawv cov phiaj xwm kho mob.

Nrhiav FS

Thaum cov tshuaj ua rau FS txuas ntxiv los yog cov koob tshuaj txo qis, ob lub raum rov qab mus tas li. Muaj qee kis, mob raum yuav nyob ntev.

Outlook rau Fanconi syndrome

Qhov kev xam pom rau FS yog qhov muaj txiaj ntsig zoo niaj hnub no zoo dua li nws tau ua ntau xyoo dhau los, thaum kev siv lub neej rau cov neeg mob cystinosis thiab FS luv dua. Muaj cov cysteamine thiab hloov raum ua rau ntau tus neeg uas muaj FS thiab cystinosis los ua kev ncaj ncees thiab lub neej ntev dua.

Kev siv thev naus laus zis tau raug soj ntsuam kuaj cov menyuam yug tshiab thiab menyuam mos rau cystinosis thiab FS. Qhov no ua rau nws muaj peev xwm rau kev kho mob pib ntxov. Kev tshawb nrhiav tseem niaj hnub nrhiav cov kev kho mob tshiab thiab zoo dua, xws li cov qog hloov hlwb.