Kodi Fanconi Syndrome Ndi Chiyani?

Zamkati

• Zizindikiro za matenda a Fanconi
• Zomwe zimayambitsa matenda a Fanconi
• Choloŵa cha FS
• Wopeza FS
• Kuzindikira kwa matenda a Fanconi
• Makanda ndi ana omwe ali ndi cholowa cha FS
• Wopeza FS
• Matenda osadziwika bwino
• Chithandizo cha matenda a Fanconi
• Chithandizo cha cystinosis
• Wopeza FS
• Chiyembekezo cha matenda a Fanconi

Chidule

Matenda a Fanconi (FS) ndimatenda achilendo omwe amakhudza timachubu tating'onoting'ono ta ma impso. Dziwani zambiri za magawo osiyanasiyana a impso ndikuwona chithunzi apa.

Nthawi zambiri, ma tubules opitilira muyeso amabwezeretsanso mchere ndi michere (metabolites) m'magazi omwe amafunikira kuti agwire bwino ntchito. Mu FS, ma tubules opitilira mmalo mwake amatulutsa ma metabolites ofunikira kwambiri mumkodzo. Zinthu zofunika izi ndi monga:

• madzi
• shuga
• mankwala
• ma bicarboneti
• katemera
• potaziyamu
• uric asidi
• amino zidulo
• mapuloteni ena

Impso zanu zimasefa pafupifupi madzi okwanira malita 180 (190.2) tsiku lililonse. Zoposa 98 peresenti ya izi ziyenera kubwezeredwa m'magazi. Izi sizili choncho ndi FS. Kulephera kwa ma metabolites ofunikira kumatha kuyambitsa kusowa kwa madzi m'thupi, kufooka kwa mafupa, komanso kulephera kukula bwino.

Pali mankhwala omwe angathe kuchepetsa kapena kuletsa kupita patsogolo kwa FS.

FS nthawi zambiri imachokera. Komanso itha kupezeka ndi mankhwala, mankhwala, kapena matenda.

Amatchedwa dokotala wa ana a ku Switzerland Guido Fanconi, yemwe anafotokoza za matendawa m'ma 1930. Fanconi adafotokozanso za kuchepa kwa magazi m'thupi, Fanconi anemia. Izi ndizosiyana kwambiri ndi FS.

Zizindikiro za matenda a Fanconi

Zizindikiro za FS zobadwa nazo zimawoneka kuyambira ali wakhanda. Zikuphatikizapo:

• ludzu lokwanira
• kukodza kwambiri
• kusanza
• kulephera kukula bwino
• kukula pang'onopang'ono
• kufooka
• ziphuphu
• kutsika kwa minofu
• zovuta zaminyewa
• matenda a impso

Zizindikiro za FS zomwe zapezeka ndi monga:

• matenda amfupa
• kufooka kwa minofu
• magazi otsika a phosphate (hypophosphatemia)
• magazi otsika a potaziyamu (hypokalemia)
• amino acid owonjezera mumkodzo (hyperaminoaciduria)

Zomwe zimayambitsa matenda a Fanconi

Choloŵa cha FS

Cystinosis ndiye chifukwa chofala kwambiri cha FS. Ndi matenda obadwa nawo mwakamodzikamodzi. Mu cystinosis, amino acid cystine imasonkhana mthupi lonse. Izi zimabweretsa kukula kochedwa komanso zovuta zingapo, monga kupunduka kwa mafupa. Mtundu wofala kwambiri (mpaka 95%) wa cystinosis umachitika mwa makanda ndipo umakhudza FS.

Ndemanga ya 2016 akuti 1 mwa ana 100,000 mpaka 200,000 akhanda ali ndi cystinosis.

Matenda ena obadwa nawo omwe angatengeke ndi FS ndi awa:

• Matenda a Lowe
• Matenda a Wilson
• tsankho la fructose

Wopeza FS

Zomwe zimayambitsa FS zomwe zidapezeka ndizosiyanasiyana. Zikuphatikizapo:

• kuwonetsedwa ndi chemotherapy
• kugwiritsa ntchito mankhwala ochepetsa mphamvu ya kachilombo ka HIV
• kugwiritsa ntchito maantibayotiki

Zotsatira zoyipa zochokera kuchipatala ndizofala kwambiri. Kawirikawiri zizindikiro zimatha kuchiritsidwa kapena kusintha.

Nthawi zina chifukwa cha FS yodziwika sichidziwika.

Mankhwala osokoneza bongo omwe amapezeka ndi FS ndi awa:

• ifosfamide
• cisplatin ndi carboplatin
• azacitidine
• magwire
• suramin (amagwiritsidwanso ntchito pochiza matenda opatsirana pogonana)

Mankhwala ena amachititsa FS mwa anthu ena, kutengera mlingo ndi zina. Izi zikuphatikiza:

• Ma tetracyclines atha ntchito. Zida zoperewera za maantibayotiki omwe atha ntchito m'banja la tetracycline (anhydrotetracycline ndi epitetracycline) zimatha kuyambitsa matenda a FS m'masiku ochepa.
• Mankhwala opatsirana a Aminoglycoside. Izi zimaphatikizapo gentamicin, tobramycin, ndi amikacin. Pafupifupi 25 peresenti ya anthu omwe amalandira mankhwalawa amakhala ndi zizindikilo za FS, akuwonetsa kuwunika kwa 2013.
• Ma anticonvulsants. Valproic acid ndi chitsanzo chimodzi.
• Zosakaniza. Izi zimaphatikizapo didanosine (ddI), cidofovir, ndi adefovir.
• Fumaric acid. Mankhwalawa amachiza psoriasis.
• Ranitidine. Mankhwalawa amachiza zilonda zam'mimba.
• Boui-ougi-tou. Ichi ndi mankhwala achi China omwe amagwiritsidwa ntchito kunenepa kwambiri.

Zina zomwe zimakhudzana ndi zisonyezo za FS ndi izi:

• kumwa mowa mopitirira muyeso
• guluu kununkhiza
• kukhudzana ndi zitsulo zolemera komanso mankhwala akuntchito
• kusowa kwa vitamini D
• Kuika impso
• angapo myeloma
• amyloidosis

Njira zenizeni zomwe zimakhudzidwa ndi FS sizikudziwika bwino.

Kuzindikira kwa matenda a Fanconi

Makanda ndi ana omwe ali ndi cholowa cha FS

Kawirikawiri zizindikiro za FS zimawonekera koyambirira kuyambira ali wakhanda komanso ali mwana. Makolo amatha kuzindikira ludzu kapena kuchedwa kuposa kukula. Ana atha kukhala ndi ma rickets kapena mavuto a impso.

Dokotala wa mwana wanu adzalamula kuyesedwa kwa magazi ndi mkodzo kuti aone ngati ali ndi vuto, monga kuchuluka kwa shuga, phosphates, kapena amino acid, ndikuwongolera zina zomwe zingachitike. Angayang'anenso cystinosis poyang'ana khungu la mwanayo ndikuwunika nyali. Izi ndichifukwa choti cystinosis imakhudza maso.

Wopeza FS

Dokotala wanu adzafunsa mbiri yanu yachipatala kapena ya mwana wanu, kuphatikiza mankhwala aliwonse omwe inu kapena mwana wanu mumamwa, matenda ena omwe alipo, kapena kuwonekera pantchito. Aitananso kuyesa magazi ndi mkodzo.

Mu FS yomwe mwapeza, mwina simungazindikire izi. Mafupa ndi impso zitha kuwonongeka pofika nthawi yodziwika.

Kupezeka kwa FS kumatha kukhudza anthu azaka zilizonse.

Matenda osadziwika bwino

Chifukwa FS ndimatenda achilendo kwambiri, madokotala samadziwa. FS ikhozanso kupezeka pamodzi ndi matenda ena osowa achibadwa, monga:

• cystinosis
• Matenda a Wilson
• Matenda a mano
• Matenda a Lowe

Zizindikirozi zimatha kukhala chifukwa cha matenda omwe amadziwika bwino, kuphatikiza mtundu wa 1 shuga. Matenda ena olakwika ndi awa:

• Kukula pang'onopang'ono kumachitika chifukwa cha cystic fibrosis, kuperewera kwa zakudya m'thupi nthawi zonse, kapena chithokomiro chopitilira muyeso.
• Ma rickets amatha kukhala ndi vuto la kusowa kwa vitamini D kapena mitundu yobadwira.
• Kulephera kwa impso kumatha kubwera chifukwa cha matenda a mitochondrial kapena matenda ena osowa.

Chithandizo cha matenda a Fanconi

Chithandizo cha FS chimadalira kuuma kwake, chifukwa chake, komanso kupezeka kwa matenda ena. FS sangachiritsidwebe pano, koma zizindikirazo zimatha kuwongoleredwa. Kupeza koyambirira ndikuchiritsidwa, kumawonjezera malingaliro.

Kwa ana omwe ali ndi FS yobadwa nawo, njira yoyamba yothandizira ndikuchotsa zinthu zofunika zomwe zikuchotsedwa mopitilira muyeso ndi impso zowonongekazo. Kusintha kwa zinthuzi kumatha kukhala pakamwa kapena polowetsedwa. Izi zikuphatikiza kusintha kwa:

• ma elekitirodi
• ma bicarboneti
• potaziyamu
• vitamini D
• magalasi
• madzi (mwana akataya madzi m'thupi)
• michere ina ndi michere

Zakudya zopatsa mafuta kwambiri zimalimbikitsidwa kuti zikule bwino. Ngati mafupa a mwanayo ali olumala, akatswiri azachipatala komanso akatswiri a mafupa amatha kuyitanidwa.

Kukhalapo kwa matenda ena amtundu kungafune chithandizo china. Mwachitsanzo, chakudya chamkuwa chochepa chimalimbikitsidwa kwa anthu omwe ali ndi matenda a Wilson.

Mu cystinosis, FS imathetsedwa ndikubwezeretsa impso bwino kutsatira kulephera kwa impso. Izi zimawerengedwa ngati chithandizo cha matenda, m'malo mochiza FS.

Chithandizo cha cystinosis

Ndikofunika kuyamba chithandizo mwachangu kwa cystinosis. Ngati FS ndi cystinosis sizikuchiritsidwa, mwanayo amatha kudwala impso pofika zaka 10.

US Food and Drug Administration yavomereza mankhwala omwe amachepetsa cystine m'maselo. Cysteamine (Cystagon, Procysbi) itha kugwiritsidwa ntchito ndi ana, kuyambira ndi mlingo wochepa ndikugwira ntchito mpaka muyeso wosamalira. Kugwiritsa ntchito kwake kungachedwetse kufunikira kwa kumuika impso kwa zaka 6 mpaka 10. Komabe, cystinosis ndi matenda amachitidwe. Zitha kubweretsa mavuto ndi ziwalo zina.

Mankhwala ena a cystinosis ndi awa:

• cysteamine diso lotsika kuti muchepetse zotupa zomwe zimayika mu cornea
• kukula kwa hormone m'malo
• kumuika impso

Kwa ana ndi ena omwe ali ndi FS, kuwunika kosalekeza ndikofunikira. Ndikofunikanso kuti anthu omwe ali ndi FS azikhala osasintha potsatira ndondomeko yawo ya mankhwala.

Wopeza FS

Zomwe zimayambitsa FS zatha kapena mlingowu utachepa, impso zimachira pakapita nthawi. Nthawi zina, kuwonongeka kwa impso kumatha kupitilirabe.

Chiyembekezo cha matenda a Fanconi

Maganizo a FS ndiabwino kwambiri masiku ano kuposa zaka zapitazo, pomwe moyo wa anthu omwe ali ndi cystinosis ndi FS unali wamfupi kwambiri. Kupezeka kwa cysteamine ndi impso kuziyika kumathandiza anthu ambiri omwe ali ndi FS ndi cystinosis kukhala moyo wabwinobwino komanso wautali.

Ukadaulo watsopano ukupangidwa kuti uwonetse ana obadwa kumene ndi makanda a cystinosis ndi FS. Izi zimapangitsa kuti mankhwala ayambe msanga. Kafukufuku akupitilizabe kupeza njira zatsopano komanso zabwino, monga ma cell a stem.