Kuyini iFanconi Syndrome?

-Delile

• Izimpawu ze-Fanconi syndrome
• Izimbangela ze-Fanconi syndrome
• I-FS eyifa
• I-FS etholakele
• Ukuxilongwa kwe-Fanconi syndrome
• Izinsana nezingane ezine-FS ezuzwe njengefa
• I-FS etholakele
• Ukuxilongwa okungajwayelekile kahle
• Ukwelashwa kwe-Fanconi syndrome
• Ukwelashwa kwe-cystinosis
• I-FS etholakele
• Umbono we-Fanconi syndrome

Ukubuka konke

I-Fanconi syndrome (i-FS) yisifo esingajwayelekile esithinta amashubhu wokuhlunga (ama-tubules asondele) enso. Funda kabanzi mayelana nezingxenye ezahlukahlukene zezinso bese ubona umdwebo lapha.

Imvamisa, ama-tubules asezingeni eliphakeme abuyisela kabusha amaminerali nezakhi (ama-metabolites) egazini elidingekayo ukuze lisebenze kahle. Ku-FS, ama-tubules aseduze kunalokho akhipha inani elikhulu lalawa ma-metabolites abalulekile emchameni. Lezi zinto ezibalulekile zifaka:

• amanzi
• ushukela
• i-phosphate
• ama-bicarbonates
• i-carnitine
• i-potassium
• i-uric acid
• ama-amino acid
• amanye amaprotheni

Izinso zakho zihlunga cishe amalitha ayi-180 (amalitha ayi-190.2) oketshezi ngosuku. Amaphesenti angaphezu kuka-98 alokhu kufanele abuyiselwe egazini. Lokhu akunjalo nge-FS. Ukushoda okuvelayo kwama-metabolites abalulekile kungadala ukoma, ukonakala kwamathambo, nokwehluleka ukuchuma.

Kukhona imishanguzo etholakalayo enganciphisa noma imise ukuqhubeka kwe-FS.

I-FS ivame ukuzuzwa njengefa. Kepha kungatholwa nakwezinye izidakamizwa, amakhemikhali, noma izifo.

Siqanjwe ngudokotela wezingane waseSwitzerland uGuido Fanconi, owachaza ngalesi sifo ngawo-1930. UFanconi uphinde wachaza okokuqala i-anemia engajwayelekile, i-Fanconi anemia. Lesi yisimo esihluke ngokuphelele esingahlobene ne-FS.

Izimpawu ze-Fanconi syndrome

Izimpawu ze-FS ezuzwe njengefa zingabonakala zisencane. Kubandakanya:

• ukoma ngokweqile
• ukuchama ngokweqile
• ukuhlanza
• ukwehluleka ukuchuma
• ukukhula kancane
• ubuthakathaka
• rickets
• ithoni yemisipha ephansi
• ukungajwayelekile kwe-corneal
• isifo sezinso

Izimpawu ze-FS etholakalayo zifaka:

• isifo samathambo
• ubuthakathaka bemisipha
• ukuhlushwa kwegazi eliphansi le-phosphate (hypophosphatemia)
• amazinga we-potassium egazi aphansi (hypokalemia)
• ama-amino acid amaningi kumchamo (hyperaminoaciduria)

Izimbangela ze-Fanconi syndrome

I-FS eyifa

I-cystinosis iyimbangela evame kakhulu ye-FS. Kuyisifo esingajwayelekile esizuzwe njengefa. Ku-cystinosis, i-amino acid cystine ihlangana kuwo wonke umzimba. Lokhu kuholela ekukhuleni okubambezelekile nochungechunge lwezifo, njengokukhubazeka kwamathambo. Uhlobo oluvame kakhulu futhi olunzima (kufika kumaphesenti angama-95) lwe-cystinosis lwenzeka ezinganeni futhi lubandakanya i-FS.

Ukubuyekezwa kuka-2016 kulinganisela ukuthi kuzo zonke izingane ezisanda kuzalwa eziyi-100 000 kuya ku-200,000 zine-cystinosis.

Ezinye izifo ze-metabolic ezizuzwe njengefa ezingabandakanyeka ne-FS zifaka:

• I-Lowe syndrome
• Isifo sikaWilson
• ukungabekezelelani okuzuzwe njengefa

I-FS etholakele

Izimbangela ze-FS etholakalayo zihlukahlukene. Kubandakanya:

• ukuvezwa kwamanye amakhemikhali
• ukusetshenziswa kwezidambisigciwane
• ukusetshenziswa kwemithi elwa namagciwane

Imiphumela emibi enobuthi evela emithini yokwelapha iyimbangela evame kakhulu. Imvamisa izimpawu zingelashwa noma zihlehliswe.

Kwesinye isikhathi imbangela ye-FS etholakele ayaziwa.

Izidakamizwa ze-anticancer ezihambisana ne-FS zifaka:

• ifosfamide
• i-cisplatin ne-carboplatin
• azacitidine
• umagazine
• i-suramin (futhi isetshenziselwa ukwelapha izifo ezincelisayo)

Ezinye izidakamizwa zidala i-FS kwabanye abantu, kuya ngomthamo nezinye izimo. Lokhu kufaka phakathi:

• Ama-tetracyclines aphelelwe yisikhathi. Imikhiqizo yokuwohloka kwama-antibiotic aphelelwe yisikhathi emndenini we-tetracycline (i-anhydrotetracycline ne-epitetracycline) ingadala izimpawu ze-FS kungakapheli izinsuku.
• Ama-antibiotic e-Aminoglycoside. Lokhu kufaka phakathi i-gentamicin, i-tobramycin, ne-amikacin. Kuze kube ngamaphesenti angama-25 abantu abaphathwa ngalezi zinhlungu ezilwa namagciwane athuthukisa izimpawu ze-FS, kuphawula ukubuyekezwa kuka-2013.
• Ama-anticonvulsants. I-Valproic acid yisibonelo esisodwa.
• Amagciwane. Lokhu kufaka phakathi i-didanosine (ddI), i-cidofovir, ne-adefovir.
• I-Fumaric acid. Lesi sidakamizwa siphatha i-psoriasis.
• I-Ranitidine. Lesi sidakamizwa siphatha izilonda.
• I-Boui-ougi-tou. Lesi yisidakamizwa saseChina esisetshenziselwa ukukhuluphala.

Ezinye izimo ezihlotshaniswa nezimpawu ze-FS zifaka:

• okungapheli, ukusetshenziswa kotshwala obunzima
• i-glue ukuhogela
• ukuvezwa izinsimbi ezisindayo namakhemikhali asemsebenzini
• ukushoda kukavithamini D
• ukufakelwa izinso
• i-myeloma eminingi
• amyloidosis

Indlela ngqo ebandakanyeka ne-FS ayichazwanga kahle.

Ukuxilongwa kwe-Fanconi syndrome

Izinsana nezingane ezine-FS ezuzwe njengefa

Imvamisa izimpawu ze-FS zivela ekuqaleni kobuntwana nasebuntwaneni. Abazali bangaqaphela ukoma ngokweqile noma ukuhamba kancane kunokukhula okujwayelekile. Izingane zingaba nezinkinga zamarikethi noma zezinso.

Udokotela wengane yakho uzo-oda ukuhlolwa kwegazi nomchamo ukuze ahlole ukungajwayelekile, njengamazinga aphezulu eshukela, ama-phosphates, noma ama-amino acid, nokunquma amanye amathuba. Bangase futhi bahlole i-cystinosis ngokubheka i-cornea yengane ngokuhlolwa kwesibani. Lokhu kungenxa yokuthi i-cystinosis ithinta amehlo.

I-FS etholakele

Udokotela wakho uzokubuza umlando wakho wezokwelapha noma wengane yakho, kufaka phakathi noma imiphi imithi wena noma ingane yakho oyiphuzayo, ezinye izifo ezikhona, noma ukuvezwa emsebenzini. Bazophinde ba-oda ukuhlolwa kwegazi nomchamo.

Ku-FS oyitholile, ungahle ungaziboni izimpawu ngokushesha. Amathambo nezinso kungalimala ngesikhathi kutholakala ukuxilongwa.

I-FS etholakalayo ingathinta abantu noma ngabe ibuphi ubudala.

Ukuxilongwa okungajwayelekile kahle

Ngenxa yokuthi i-FS iyisifo esingajwayelekile, odokotela bangahle bangasijwayeli. I-FS ingahle ibe khona kanye nezinye izifo zofuzo ezingavamile, njenge:

• i-cystinosis
• Isifo sikaWilson
• Isifo samazinyo
• I-Lowe syndrome

Izimpawu zingabangelwa izifo ezijwayeleke kakhulu, kufaka phakathi uhlobo lwesifo sikashukela sohlobo 1. Okunye ukuxilongwa okungalungile kufaka phakathi okulandelayo:

• Ukukhula okungaqinile kungabangelwa i-cystic fibrosis, ukungondleki okungamahlalakhona, noma i-thyroid engasebenzi ngokweqile.
• Ama-rickets angabangelwa ukuntuleka kukavithamini D noma izinhlobo zofuzo zama-rickets.
• Ukungasebenzi kahle kwezinso kungabangelwa yisifo se-mitochondrial noma ezinye izifo ezingavamile.

Ukwelashwa kwe-Fanconi syndrome

Ukwelashwa kwe-FS kuncike ebukhali, imbangela, nokuba khona kwezinye izifo. I-FS ayikwazi ukwelashwa okwamanje, kepha izimpawu zingalawulwa. Lapho kutholakala ukuxilongwa nokwelashwa kwasekuqaleni, kuba ngcono umbono.

Ezinganeni ezine-FS ezuzwe njengefa, umugqa wokuqala wokwelashwa ukufaka izinto ezibalulekile ezisuswa ngokweqile izinso ezilimele. Ukushintshwa kwalezi zinto kungaba ngomlomo noma ngokufakwa. Lokhu kufaka ukufaka esikhundleni se:

• ama-electrolyte
• ama-bicarbonates
• i-potassium
• uvithamini D
• phosphates
• amanzi (lapho ingane iphelelwe amanzi emzimbeni)
• amanye amaminerali nezakhamzimba

Ukudla okunekhalori ephezulu kunconywa ukugcina ukukhula okufanele. Uma amathambo engane enenkinga, kungabizwa abelaphi bomzimba kanye nochwepheshe bamathambo.

Ukuba khona kwezinye izifo zofuzo kungadinga ukwelashwa okwengeziwe. Isibonelo, kunconywa ukudla okunethusi ephansi kubantu abanesifo sikaWilson.

Ku-cystinosis, i-FS ixazululwa ngokufakelwa kwezinso okuphumelelayo kulandela ukwehluleka kwezinso. Lokhu kubhekwa njengokwelashwa kwesifo esiyimbangela, hhayi ukwelashwa kwe-FS.

Ukwelashwa kwe-cystinosis

Kubalulekile ukuqala ukwelashwa ngokushesha okukhulu kwe-cystinosis. Uma i-FS ne-cystinosis kungalashwa, ingane ingaba nokuhluleka kwezinso eneminyaka engu-10.

Ukuphathwa Kwezokudla Nezidakamizwa e-U.S. Kugunyaze umuthi owehlisa inani le-cystine kumaseli. ICysteamine (ICystagon, iProcysbi) ingasetshenziswa nezingane, kuqala ngomthamo ophansi nokusebenza kuze kufike kumthamo wesondlo. Ukusetshenziswa kwayo kungabambezela isidingo sokufakelwa kwezinso iminyaka eyisithupha kuya kwengu-10. Kodwa-ke, i-cystinosis yisifo se-systemic. Kungadala izinkinga ngezinye izitho.

Ezinye izindlela zokwelapha i-cystinosis zifaka:

• amaconsi e-cysteamine ukwehlisa ukufakwa kwe-cystine ku-cornea
• ozokusebenzisa esikhundleni
• ukufakelwa izinso

Ezinganeni nakwabanye abane-FS, ukuqapha okuqhubekayo kuyadingeka. Kubalulekile futhi ukuthi abantu abane-FS bangaguquguquki ekulandeleni uhlelo lwabo lokwelashwa.

I-FS etholakele

Lapho into ebangela i-FS iyekile noma umthamo wehlisiwe, izinso ziyalulama ngokuhamba kwesikhathi. Kwezinye izimo, ukulimala kwezinso kungaqhubeka.

Umbono we-Fanconi syndrome

Umbono we-FS ungcono kakhulu namuhla kunaseminyakeni edlule, lapho isikhathi sokuphila sabantu abane-cystinosis ne-FS sasifushane kakhulu. Ukutholakala kwe-cysteamine kanye nokufakelwa kwezinso kwenza abantu abaningi abane-FS ne-cystinosis baphile impilo ejwayelekile futhi ende.

Ubuchwepheshe obusha buthuthukiswa ukuze kuhlolwe izinsana nezinsana nge-cystinosis ne-FS. Lokhu kwenza ukuthi ukwelashwa kuqale kusenesikhathi. Ucwaningo luyaqhubeka nokuthola izindlela zokwelapha ezintsha nezingcono, njengokufakelwa kwamaseli e-stem.