Fanconi syndrome

Tus mob Fanconi syndrome yog qhov mob tsis zoo ntawm lub raum txoj hlab ntshav uas qee yam feem ntau nqus mus rau hauv cov hlab ntshav los ntawm ob lub raum raug tso tawm rau hauv cov zis.

Tus mob Fanconi syndrome tuaj yeem tshwm sim los ntawm cov noob hloov pauv, lossis nws tuaj yeem tshwm sim hauv lub neej tom qab vim lub raum puas tsuaj. Qee zaum tsis paub tus mob Fanconi syndrome kuj tsis paub meej.

Cov teeb meem feem ntau ntawm Fanconi syndrome hauv cov menyuam yaus yog qhov muaj teeb meem ntawm caj ces uas cuam tshuam rau lub cev kev muaj peev xwm los rhuav tshem qee yam xws li:

• Cystine (cystinosis)
• Fructose (fructose intolerance)
• Galactose (galactosemia)
• Glycogen (glycogen cia kab mob)

Tus mob Cystinosis yog tus mob ua rau muaj tus mob Fanconi syndrome rau menyuam yaus.

Lwm yam ua rau menyuam yaus muaj xws li:

• Raug cov hlau loj xws li cov hlau lead, mercury, lossis cadmium
• Qhov mob Lowe syndrome, yog ib qho kev tsis sib haum xeeb ntawm lub qhov muag, lub hlwb, thiab lub raum
• Wilson kab mob
• Hniav tus kab mob, ib qho tsis tshua muaj siab caj ces ntawm lub raum

Hauv cov laus, Fanconi syndrome tuaj yeem tshwm sim los ntawm ntau yam uas ua rau lub raum puas, suav nrog:

• Qee yam tshuaj, suav nrog azathioprine, cidofovir, gentamicin, thiab tetracycline
• Raum hloov raum
• Lub teeb saw deposition kab mob
• Ntau myeloma
• Thawj amyloidosis

Cov tsos mob muaj xws li:

• Kev tso zis ntau dhau, uas tuaj yeem ua rau lub cev qhuav dej
• Kev nqhis dej ntau dhau
• Mob pob txha mob heev
• Lov pob txha vim pob txha tsis muaj zog
• Nqaij tsis muaj zog

Kuaj ntshav yuav pom tau tias ntau cov tshuaj hauv qab no yuav poob hauv cov zis:

• Cov amino acids
• Bicarbonate
• Cauj
• Hlau nplaum
• Ntsev
• Qab Zib
• Kev Sodium
• Uric acid

Poob ntawm cov tshuaj no tuaj yeem ua rau ntau yam teeb meem. Cov kev ntsuam xyuas txuas ntxiv thiab kev kuaj mob lub cev yuav qhia pom cov cim ntawm:

• Lub cev qhuav dej vim mus tso zis ntau dhau
• Kev loj hlob tsis ua haujlwm
• Osteomalacia
• Cov yob
• Hom 2 lub raum tubular acidosis

Ntau yam kabmob sib txawv tuaj yeem ua rau tus mob Fanconi syndrome. Lub hauv paus rau qhov mob thiab nws cov tsos mob yuav tsum raug kho raws li qhov tsim nyog.

Tus mob yog raws li cov kab mob pib.

Hu koj tus kws kho mob yog tias koj lub cev qhuav dej lossis leeg tsis muaj zog.

De Toni-Fanconi-Debré syndrome

• Raum anatomy

Bonnardeaux A, Bichet DG. Inherited cuam tshuam ntawm lub raum renal. Hauv: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner thiab Rector's RaumCov. 11th ed. Philadelphia, PA: Elsevier; 2020: cha 44.

Foreman JW. Fanconi syndrome thiab lwm yam kev tso ntshav tsis haum tub ntxhais hluas. Hauv: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Cov Chaw Kho Mob Tshaj LojCov. 6 tus ed. Philadelphia, PA: Elsevier; 2019: chap 48.