Yintoni iFanconi Syndrome?

Umxholo

• Iimpawu zesifo seFanconi
• Unobangela wesifo seFanconi
• Ilifa le-FS
• Ukufumana i-FS
• Ukuchongwa kwesifo seFanconi
• Iintsana nabantwana abanelifa le-FS
• Ukufumana i-FS
• Ukuchongwa gwenxa okuqhelekileyo
• Unyango lwe-Fanconi syndrome
• Unyango lweCystinosis
• Ukufumana i-FS
• Imbonakalo yesifo seFanconi

Ushwankathelo

I-Fanconi syndrome (FS) sisifo esinqabileyo esichaphazela iityhubhu zokucoca (iiphubhu ezihambelanayo) zezintso. Funda ngakumbi ngamalungu ahlukeneyo ezintso kwaye ubone umzobo apha.

Ngokwesiqhelo, ii-tubules ezi-proximal ziphinda zisebenzise i-minerali kunye nezakhamzimba (i-metabolites) kwigazi eliyimfuneko ekusebenzeni kakuhle. Kwi-FS, ii-tubules ezihamba phambili endaweni yoko zikhupha izixa ezikhulu zezi metabolites zibalulekileyo kumchamo. Ezi zinto zibalulekileyo zibandakanya:

• amanzi
• iswekile
• iphosphate
• bicarbonates
• Yinyani
• potassium
• iuric acid
• iiamino acid
• Ezinye iiproteni

Izintso zakho zihluza malunga neelitha ezili-180 (iikota ezili-190.2) zamanzi ngosuku. Ngaphezulu kweepesenti ezingama-98 zoku kufuneka ziphinde zifakwe egazini. Oku akunjalo ngeFS. Ukungabikho kwemetabolites kubalulekile kunokubangela ukomisa, ukomelela kwethambo kunye nokusilela ukukhula.

Kukho unyango olukhoyo olunokucothisa okanye lokumisa ukuqhubela phambili kwe-FS.

I-FS ihlala izuzwa njengelifa. Kodwa inokufumaneka nakwamanye amachiza, kwiikhemikhali okanye kwizifo.

Ibizwa ngegama lonyango lwabantwana baseSwitzerland uGuido Fanconi, owachaza esi sifo ngo-1930. UFanconi uphinde wachaza i-anemia enqabileyo, i-Fanconi anemia. Le yimeko eyahluke mpela kwi-FS.

Iimpawu zesifo seFanconi

Iimpawu ze-FS ezuzwe njengelifa zinokubonwa kwasebusaneni. Ziquka:

• ukunxanwa ngokugqithiseleyo
• ukuchama kakhulu
• ukugabha
• ukusilela ukuchuma
• ukukhula kancinci
• ubuthathaka
• Iirickets
• ithoni yezihlunu ezisezantsi
• Ukungaqhelekanga kwe-corneal
• isifo sezintso

Iimpawu ze-FS efunyenweyo zibandakanya:

• isifo samathambo
• ubuthathaka bemisipha
• uxinzelelo lwegazi oluphantsi lwe-phosphate (hypophosphatemia)
• amanqanaba e-potassium ephantsi egazini (hypokalemia)
• ii-amino acid ezigqithileyo kumchamo (hyperaminoaciduria)

Unobangela wesifo seFanconi

Ilifa le-FS

ICystinosis sesona sizathu siphambili seFS. Sisifo esinqabe njengelifa. Kwi-cystinosis, i-amino acid cystine iqokelela emzimbeni wonke. Oku kukhokelela ekukhuleni okulibazisekayo kunye nothotho lweengxaki, ezinje ngokukhubazeka kwethambo. Uhlobo oluqhelekileyo nolunzima (ukuya kuma-95%) lwe-cystinosis lwenzeka kwiintsana kwaye lubandakanya i-FS.

Ukuphononongwa ngo-2016 kuqikelela ukuba 1 kwi-100,000 ukuya kuma-200,000 iintsana ezisanda kuzalwa zine-cystinosis.

Ezinye izifo ezithintekayo ezithatha inxaxheba kwi-FS ziquka:

• Isifo seLowe
• Isifo sikaWilson
• Ukunganyamezelani njenge-fructose

Ukufumana i-FS

Izizathu zokufunyanwa kwe-FS zahlukile. Ziquka:

• ukubonakaliswa kolunye unyango lwe-chemotherapy
• ukusetyenziswa kwamachiza ee-antiretroviral
• ukusetyenziswa kwamayeza okubulala iintsholongwane

Iziphumo ezinobungozi kumachiza onyango sesona sizathu siqhelekileyo. Ngokwesiqhelo iimpawu zinokunyangwa okanye zibuyiselwe umva.

Ngamanye amaxesha unobangela wokufunyanwa kwe-FS awaziwa.

Iziyobisi ezichasene nomhlaza ezinxulumene ne-FS zibandakanya:

• ifosfide
• I-cisplatin kunye ne-carboplatin
• azacitidine
• mzobo
• I-suramin (ikwasetyenziselwa ukunyanga izifo ezisisifo)

Amanye amachiza abangela i-FS kwabanye abantu, kuxhomekeke kumthamo kunye nezinye iimeko. Oku kubandakanya:

• I-tetracyclines ephelelwe lixesha. Iimveliso zokonakala kwee-antibiotics eziphelelwe lixesha kusapho lwe-tetracycline (anhydrotetracycline kunye ne-epitetracycline) kunokubangela iimpawu ze-FS kwiintsuku.
• Aminoglycoside antibiotics. Oku kubandakanya i-gentamicin, tobramycin, kunye ne-amikacin. Ukuya kuthi ga kwiipesenti ezingama-25 zabantu abaphathwe ngezi ntsholongwane bakhulisa iimpawu ze-FS, kuphononongo luka-2013.
• IiAnticonvulsants. I-Valproic acid ngumzekelo omnye.
• Izinto zokulwa neentsholongwane. Oku kubandakanya i-didanosine (ddI), cidofovir, kunye ne-adefovir.
• Iifumaric acid. Eli chiza liphatha i-psoriasis.
• Ranitidine. Eli chiza ukunyanga izilonda.
• Boui-ougi-tou. Eli liyeza laseTshayina elisetyenziselwa ukutyeba kakhulu.

Ezinye iimeko ezinxulumene neempawu ze-FS zibandakanya:

• ukusetyenziswa okungapheliyo kotywala
• iglu ukunuka
• Ukuvezwa kwesinyithi esinzima kunye neekhemikhali zomsebenzi
• Ukunqongophala kwe-vitamin D
• ukufakelwa kwezintso
• myeloma ezininzi
• amyloidosis

Indlela echanekileyo ebandakanyekayo kwi-FS ayichazwanga kakuhle.

Ukuchongwa kwesifo seFanconi

Iintsana nabantwana abanelifa le-FS

Ngokwesiqhelo iimpawu ze-FS zivela kwangoko ebusaneni nasebuntwaneni. Abazali banokuqaphela ukunxanwa okugqithisileyo okanye ukucotha kunokukhula okuqhelekileyo. Abantwana banokuba neengxaki zamathambo okanye iingxaki zezintso.

Ugqirha womntwana wakho uya ku-odola uvavanyo lwegazi kunye nomchamo ukujonga ukungaqheleki, njengamanqanaba aphezulu eswekile, i-phosphates, okanye ii-amino acid, kunye nokulawula amanye amathuba. Banokujonga kwakhona i-cystinosis ngokujonga i-cornea yomntwana ngovavanyo lwesibane. Kungenxa yokuba icystinosis ichaphazela amehlo.

Ukufumana i-FS

Ugqirha wakho uya kucela imbali yakho yezonyango okanye yomntwana wakho, kubandakanya naziphi na iziyobisi ozithathayo okanye ezithathwa ngumntwana wakho, ezinye izifo ezikhoyo, okanye ukubonakaliswa emsebenzini. Baya ku-odola uvavanyo lwegazi kunye nomchamo.

Kwi-FS efunyenweyo, awunakuzibona iimpawu kwangoko. Amathambo kunye nezintso zingonakaliswa ngexesha lokuxilongwa.

Ukufumana i-FS kunokuchaphazela abantu nangaliphi na ubudala.

Ukuchongwa gwenxa okuqhelekileyo

Ngenxa yokuba i-FS sisifo esinqabileyo, oogqirha banokungaqhelani nayo. I-FS inokubakho kunye nezinye izifo ezinqabileyo zemfuza, ezinje:

• icystinosis
• Isifo sikaWilson
• Isifo samazinyo
• Isifo seLowe

Iimpawu zinokubangelwa zizifo eziqhelekileyo, kubandakanya uhlobo lweswekile 1. Ezinye iindlela zokuqonda gwenxa zibandakanya oku kulandelayo:

• Ukukhula okumileyo kunokubangelwa yi-cystic fibrosis, ukungondleki okungapheliyo, okanye i-thyroid engasebenzi.
• Iirickets zinokubangelwa kukunqongophala kukavithamini D okanye iintlobo zofuzo lweerickets.
• Ukungasebenzi kakuhle kwezintso kunokubangelwa kukuphazamiseka kwemitochondrial okanye ezinye izifo ezinqabileyo.

Unyango lwe-Fanconi syndrome

Unyango lwe-FS luxhomekeke kubukrakra bayo, unobangela, kunye nobukho bezinye izifo. I-FS ayinakuphiliswa okwangoku, kodwa iimpawu zinokulawulwa. Ukuqala kokuchongwa nokunyangwa, imeko ibhetele.

Kubantwana abane-FS abazuze njengelifa, umgca wokuqala wonyango kukutshintsha izinto eziyimfuneko ezikhutshwa ngokugqithileyo zizintso ezonakeleyo. Ukutshintshwa kwezi zinto kunokuba ngomlomo okanye ngokufakwa. Oku kubandakanya ukutshintshwa kwe:

• ii-electrolyte
• bicarbonates
• potassium
• ivithamin D
• phosphates
• amanzi (xa umntwana ephelelwe ngamanzi emzimbeni)
• ezinye izimbiwa kunye nezondlo

Ukutya okunekhalori ephezulu kuyacetyiswa ukugcina ukukhula okufanelekileyo. Ukuba amathambo omntwana akhubazekanga, iingcali zomzimba kunye neengcali zamathambo zingabizwa.

Ubukho bezinye izifo zofuzo kunokufuna unyango olongezelelekileyo. Umzekelo, ukutya okunobhedu oluncinci kuyacetyiswa kubantu abanesifo sikaWilson.

Kwi-cystinosis, i-FS isonjululwe ngokuphumelela ukufakelwa kwezintso kulandela ukusilela kwezintso. Oku kuthathwa njengonyango lwesifo esisisiseko, kunokuba unyango lwe-FS.

Unyango lweCystinosis

Kubalulekile ukuqala unyango ngokukhawuleza kwi-cystinosis. Ukuba i-FS kunye ne-cystinosis ayinyangwa, umntwana unokuba nokusilela kwezintso eneminyaka eyi-10.

Ulawulo lwezoKutya kunye noLawulo lweMithi luvumile ichiza elinciphisa inani le-cystine kwiiseli. ICysteamine (ICystagon, iProcysbi) inokusetyenziswa nabantwana, ukuqala ngedosi esezantsi kunye nokusebenza ukuya kwinqanaba lokugcina. Ukusetyenziswa kwayo kunokulibazisa isidingo sokufakelwa kwezintso iminyaka emi-6 ukuya kweli-10. Nangona kunjalo, icystinosis sisifo esisistim. Ingabangela iingxaki ngamanye amalungu.

Olunye unyango lwe-cystinosis lubandakanya:

• i-cysteamine iliso lokuhla ukunciphisa i-cystine deposits kwi-cornea
• ukukhula kwehomoni
• ukufakelwa kwezintso

Kubantwana nakwabanye abane-FS, ukubeka esweni okokoko kuyimfuneko. Kukwabalulekile ukuba abantu abane-FS bangaguquguquki ekulandeleni isicwangciso sabo sonyango.

Ukufumana i-FS

Xa into ebangela i-FS iyekile okanye idosi incitshisiwe, izintso ziyachacha ngokuhamba kwexesha. Ngamanye amaxesha, umonakalo wezintso unokuqhubeka.

Imbonakalo yesifo seFanconi

Imbonakalo ye-FS ibhetele kakhulu namhlanje kunakwiminyaka eyadlulayo, xa ixesha lokuphila kwabantu abane-cystinosis kunye ne-FS lalifutshane kakhulu. Ukufumaneka kwe-cysteamine kunye nokufakelwa kwezintso kwenza abantu abaninzi abane-FS kunye ne-cystinosis ukuba baphile ubomi obuqhelekileyo kunye nobude obude.

Itekhnoloji entsha iyaphuhliswa ukuze kuhlolwe iintsana kunye neentsana ze-cystinosis kunye ne-FS. Oku kwenza ukuba kube lula ukuba unyango luqale kwangoko. Uphando luyaqhubeka nokufumana unyango olutsha nolungcono, olufana nokufakelwa kweseli.