Kodi muli ndi vuto ndi impso zanu? Tiyeni tikambirane za Fanconi Syndrome!

Kodi nthawi zonse mumakhala ndi ludzu losayerekezeka? Kapena ngati ndi mwana wamng'ono, kodi mwaona kupweteka m'thupi mwake ndi mafupa ofooka? Nthawi zina, kumbuyo kwa zizindikirozi, pakhoza kukhala matenda omwe sitinamvepo zambiri, koma ndikofunikira kwambiri kudziwa za iwo. Chimodzi mwa matenda otere ndi Fanconi Syndrome. Lero, tikambirana za izi mosavuta, mwanjira yomwe mungamvetse.

Kodi Fanconi Syndrome ndi chiyani?

Mwachidule, matenda a Fanconi ndi vuto lomwe limachitika pamene njira yofewa kwambiri ya impso zathu, makamaka ma proximal tubules, sigwira ntchito bwino. Tsopano ganizirani izi motere: impso zathu zili ngati njira yosefera kwambiri m'thupi lathu. Zimasefa magazi ndikuchotsa zinyalala ngati mkodzo. Zimayamwanso michere yofunika, monga ma electrolyte ndi shuga.

Komabe, mu impso za munthu amene ali ndi matenda a Fanconi, ma proximal tubules amenewa sagwira ntchito bwino. Chomwe chimachitika n’chakuti zinthu zofunika kwambiri m’thupi sizimalowanso m’thupi ndipo zimatuluka mu mkodzo. Mwa kuyankhula kwina, zinthu zamtengo wapatali zimawonongeka.

Pakati pa zinthu zofunika kwambiri zomwe zimatuluka m'thupi motere, zotsatirazi zimapezeka kwambiri:

• Phosphorus
• Shuga
• Potaziyamu
• Bicarbonate
• Asidi wa Uric
• Ma amino acid

Zinthu zimenezi zimafunika pafupifupi pa ntchito iliyonse m'thupi lathu. Choncho, zikachepa, mavuto amayamba.

Ndani angadwale matenda a Fanconi?

Uwu ndi matenda omwe angakhudze aliyense. Pali njira ziwiri zazikulu zomwe zingachitikire.

1. Matenda a Fanconi Obadwa Nawo: Uwu ndi matenda a majini, kutanthauza kuti amabadwa nawo kuchokera kwa mayi kapena bambo.

2. Acquired Fanconi Syndrome: Matendawa amatha kuchitika nthawi ina m'moyo, pazifukwa zina.

Kodi zizindikiro za matenda a Fanconi ndi ziti?

Zizindikiro zimathanso kusiyana pang'ono kutengera ngati ndi zobadwa nazo kapena zopezeka.

Zizindikiro za matenda a Fanconi obadwa nawo:

• Kukodza pafupipafupi: Kutulutsa mkodzo wambiri kuposa masiku onse.
• Kusowa madzi m'thupi: Kusowa madzi m'thupi.
• Ludzu losatha (Polydipsia): Kumva ngati sukumwa madzi okwanira ngakhale utamwa mochuluka bwanji.
• Kupweteka kwa mafupa: Mutha kumva kupweteka m'thupi lanu, makamaka m'mafupa anu.
• Kufooka kwa minofu.
• Mafupa ofooka: Mafupa amatha kusweka mosavuta.
• Kusweka kwa mafupa: Ngakhale kugwa pang'ono kungayambitse kusweka kwa mafupa.
• Kutalika pang'ono: Mungakhale wamfupi kuposa ena a msinkhu womwewo.

Zizindikiro za matenda a Fanconi:

• Kufooka kwa minofu.
• Kuchepa kwa phosphate m'magazi (Hypophosphatemia): Izi zingayambitse mavuto a mafupa.
• Kuchepa kwa potaziyamu m'magazi (Hypokalemia): Izi zingakhudzenso kugunda kwa mtima.
• Hyperaminoaciduria ndi kupezeka kwa ma amino acid ochulukirapo mu mkodzo.
• Kuchuluka kwa asidi m'thupi (Metabolic acidosis): Izi zingayambitse kutopa ndi kuvutika kupuma.
• Kukodza pafupipafupi.
• Kusowa madzi m'thupi.
• Ludzu losatha.

Tsopano mutha kuona kuti zizindikiro zina zimafanana, choncho ndi bwino kufunafuna upangiri wa dokotala kuti mudziwe zomwe zikuchitika.

Kodi n’chiyani chimayambitsa matenda a Fanconi?

Pakhoza kukhala zifukwa zambiri. Tiyeni tizigawanitse m'magawo awiri.

Zifukwa za matenda a Fanconi obadwa nawo:

Izi nthawi zambiri zimakhala matenda a majini.

• Cystinosis: Izi zimachitika chifukwa cha kuchulukana kwa amino acid cystine m'thupi. Zingakhudze ziwalo zambiri za thupi, kuphatikizapo impso, maso, minofu, mtima, ndi ubongo. Ndicho chifukwa chachikulu cha matenda a Fanconi obadwa nawo.
• Matenda a Lowe: Ichi ndi matenda osowa kwambiri omwe amagwirizanitsidwa ndi chromosome ya X. Amakhudza maso, impso, ndi ubongo. Zizindikiro nthawi zambiri zimaonekera pobadwa.
• Matenda a Wilson: Mu mkhalidwe uwu, thupi silingathe kuchotsa bwino mkuwa. Mkuwa ukachulukana, ukhoza kuwononga chiwindi, ubongo, impso, ndi maso.
• Kusalolera kwa fructose mwachibadwa: Izi zimachitika chifukwa cha kusowa kwa enzyme ya Aldolase B, yomwe imayambitsa shuga wotsika m'magazi (hypoglycemia) mukadya shuga wa zipatso (fructose) ndi sucrose, zomwe zingakhudze chiwindi.
• Matenda a mano: Uwu ndi matenda a impso omwe sapezeka kawirikawiri. Angayambitse mapuloteni mu mkodzo, kuchuluka kwa calcium mu mkodzo, kuchuluka kwa calcium m'machubu a impso (Nephrocalcinosis), miyala ya impso, ndipo pamapeto pake impso sizigwira ntchito (matenda a impso osatha). Amapezeka makamaka mwa amuna.
• Glycogenosis: Iyi ndi matenda a majini omwe amayamba chifukwa cha vuto la puloteni yotchedwa GLUT2, yomwe imanyamula shuga. Imadziwikanso kuti Fanconi Bickel syndrome.
• Mtundu Woyamba wa tyrosinemia: Ichi ndi vuto la kagayidwe ka amino acid tyrosine, komwe kungakhudze chiwindi, mitsempha, ndi impso, zomwe zimapangitsa kuti Fanconi syndrome ikule.

Zifukwa zomwe zimayambitsa matenda a Fanconi pambuyo pake:

• Mankhwala ena:Matendawa amatha kuchitika chifukwa cha mankhwala enaake, monga maantibayotiki, mankhwala a HIV/AIDS, ndi mankhwala a chemotherapy, zomwe zingawononge impso.
• Kuika impso: Izi zitha kuchitika chifukwa cha mankhwala omwe amagwiritsidwa ntchito pambuyo poika impso, kuwonongeka kwa impso panthawi ya opaleshoni, kapena kukana impso yoikidwa.
• Multiple myeloma: Iyi ndi khansa ya maselo a m'magazi. Puloteni yosazolowereka yomwe imapangidwa ndi maselowa imatha kukhudza impso, zomwe zimayambitsa matenda a Fanconi.
• AL amyloidosis (amyloidosis yoyamba): Pankhaniyi, puloteni m'maselo a m'magazi imakhala yosazolowereka ndipo imakhudza ziwalo zingapo, kuphatikizapo impso.
• Kutupa kwa impso (LCPT): Pa vuto limeneli, mapuloteni osazolowereka amaikidwanso mu impso.
• Kuopsa kwa lead: Kukhudzana kwambiri ndi lead ndi chifukwa chinanso. Utoto wakale, mabatire ena, ndi mankhwala ena achikhalidwe angakhalenso ndi lead, choncho samalani.
• Kupezeka kwa Toluene: Toluene ndi mankhwala omwe amapezeka mu chingamu, utoto, ndi madzi oyeretsera zitsulo. Kupuma izi (monga kununkhiza chingamu) kungayambitse matenda a Fanconi.
• Mankhwala ena ochokera ku zitsamba: Mankhwala ena ochokera ku zitsamba okhala ndi aristolochic acid nawonso apezeka kuti akugwirizana ndi izi. Chifukwa chake, sikoyenera kugwiritsa ntchito zinthu zotere popanda upangiri wa dokotala.

Ndi mankhwala ati enieni omwe amayambitsa matenda a Fanconi?

Kawirikawiri, mitundu iyi ya mankhwala yapezeka kuti imayambitsa matenda a Fanconi:

• Cisplatin `(Cisplatin)`
• Ifosfamide
• Tenofovir
• Asidi ya Valproic `(asidi ya Valproic)`
• Mankhwala opha tizilombo a Aminoglycoside, monga Gentamicin
• Deferasirox `(Deferasirox)`

Si aliyense amene amagwiritsa ntchito mankhwalawa amene angalandire mankhwalawa, koma pali chiopsezo. Choncho ngati dokotala akulemberani mankhwala amenewa, adzakuyang'anirani.

Kodi matenda a Fanconi ndi opatsirana?

Ayi. Iyi si matenda opatsirana. Simafalikira kuchokera kwa munthu wina kupita kwa wina kudzera mu kukhudzana kwambiri.

Kodi matenda a Fanconi amawapeza bwanji?

Dokotala adzakufunsani za zizindikiro zanu ndi mankhwala omwe mukumwa. Kenako adzakuyesani thupi. Akhozanso kuchita mayeso ena kuti atsimikizire matendawa. Muthanso kutumizidwa kwa dokotala yemwe ndi katswiri wa matenda a impso (Nephrologist).

Ndi mayeso ati omwe akuchitidwa pa izi?

Kawirikawiri mayeso a mkodzo ndi magazi amachitidwa.

• Kuyesa mkodzo / Kusanthula mkodzo:Adzatenga mkodzo kuchokera kwa inu ndikuwona ngati uli ndi zinthu zambiri monga shuga, amino acid, ndi phosphate. Ngati izi zili zambiri, ndi chizindikiro cha Fanconi syndrome.
• Kuyezetsa magazi: Kuyezetsa magazi kumayesanso kuchuluka kwa phosphate, bicarbonate, ndi potaziyamu komwe kumachepa. Kuchuluka kwa izi ndi chizindikiro cha matendawa.

Dokotala amapanga matenda potengera zomwe zapezeka kuchokera ku mayesowa.

Kodi matenda a Fanconi angachiritsidwe?

Izi zimadalira chifukwa cha matendawa.

• Matenda a majini omwe amayambitsa matenda a Fanconi nthawi zambiri amakhala ovuta kuwachiza kotheratu. Komabe, kusintha zakudya ndi chithandizo kungathandize kuchepetsa zizindikiro ndikukweza moyo.
• Ngati chomwe chimayambitsa matenda a Fanconi chadziwika ndikuchiritsidwa, impso nthawi zina zimatha kuchira. Komabe, izi sizitsimikizika nthawi zonse. Komabe, zizindikiro zimatha kuthetsedwa ndipo kuwonongeka kwa impso, minofu, ndi mafupa kumatha kuchepetsedwa.

Kodi matenda a Fanconi amachiritsidwa bwanji?

Njira yochiritsira imasiyananso malinga ndi chifukwa ndi kuopsa kwa matendawa.

1. Kuchiza chomwe chimayambitsa matendawa: Dokotala adzayamba wachiza matenda omwe amayambitsa matenda a Fanconi. Mwachitsanzo, ngati ayambitsidwa ndi mankhwala, mankhwalawo akhoza kuyimitsidwa kapena mlingo wake ungachepe.

2. Kudzaza thupi: Thupi limadzazidwa ndi michere yofunika kwambiri (ma electrolyte, madzi) omwe amatayika kudzera mu mkodzo. Izi zitha kuchitika kudzera mu kusintha zakudya, zakudya zowonjezera pakamwa, kapena kulowetsedwa m'mitsempha (IV).

3. Kulamulira acidity m'thupi (Metabolic acidosis): Popeza anthu ambiri amakumana ndi vutoli, zinthu monga sodium bicarbonate zingaperekedwe kuti abwezeretse pH ya magazi (pH scale).

4. Kwa iwo omwe ali ndi phosphate yochepa: Popeza phosphate yochepa imafooketsa mafupa, ma phosphate ndi vitamini D angaperekedwe.

5. Zakudya zapadera za matenda obadwa nawo: Ngati mwana wabadwa ndi matenda a Fanconi, angafunike zakudya zapadera. Mwachitsanzo, angafunike kuchepetsa zakudya zomwe zili ndi fructose, galactose, kapena tyrosine. Izi zimadalira matenda omwe ali nawo m'thupi.

Chofunika kwambiri ndikutsatira malangizo a dokotala. Ngati muyesa kuchita zinthu nokha, zinthu zitha kuipiraipira.

Kodi ndidzachira msanga bwanji nditalandira chithandizo?

Izi zingasiyanenso kwambiri kutengera chifukwa chake. Milandu ina ya Fanconi syndrome yomwe imayamba pambuyo pake imatha mkati mwa masiku kapena milungu ingapo. Komabe, matenda ena obadwa nawo komanso omwe amayamba pambuyo pake amatha kukhala a nthawi yayitali. Chifukwa chake, ndikofunikira kukhala oleza mtima ndikumwa mankhwala.

Kodi matenda a Fanconi angapewedwe?

Palibe chomwe tingachite kuti tipewe matenda a majini omwe amapezeka pobadwa. Komabe, pali zinthu zina zomwe tingachite kuti tidziteteze ku matenda a Fanconi pambuyo pake :

• Pewani kukhudzidwa ndi lead. Lead imapezeka mu utoto wakale wa nyumba, zoseweretsa zina, ndi mapaipi amadzi okhala ndi lead.
• Lankhulani ndi dokotala musanagwiritse ntchito mankhwala azitsamba kapena mankhwala ena owonjezera. Zina mwa izo zimatha kuvulaza impso.
• Lankhulani ndi dokotala wanu za zoopsa za mankhwala aliwonse (monga maantibayotiki, mankhwala oletsa khansa) omwe iye akukupatsani. Ngati mankhwalawo ndi ofunikira, dokotalayo adzasamaliranso impso zanu.

Kodi mungayembekezere chiyani ngati muli ndi Fanconi syndrome?

Masiku ano, madokotala ndi ofufuza amadziwa zambiri zokhudza matenda a Fanconi ndi momwe angachiritsire. Mankhwala atsopano athandiza anthu ambiri kukhala ndi moyo wabwinobwino.

• Matenda a Congenital Fanconi: Zizindikiro nthawi zambiri zimawonekera ali mwana. Ngati izi zachitika chifukwa cha cystinosis, mwana akhoza kukhala ndi mavuto a kukula ndi kunenepa. Kulephera kwa impso kungachitike msanga. Ziwalo zina, monga maso, chiwindi, ndi mafupa, zingakhudzidwenso.
• Matenda a Fanconi omwe amayamba pambuyo pake: Impso zikangodziwika ndikuchiritsidwa, zimatha kuchira. Komabe, nthawi zina kuwonongeka kwa impso kumatha kukhala kosatha.

Kodi mungakhale ndi moyo wautali bwanji ndi Fanconi syndrome?

Sizingatheke kunena nthawi yeniyeni yomwe izi zidzakhalire. Ngati mugwira ntchito motsatira njira yoyenera yochizira matenda ndi dongosolo lachipatala, mutha kukhala ndi moyo wabwinobwino. Komabe, ngati impso zanu zalephera, nthawi yanu ya moyo ingachepe. Pankhani ya matenda obadwa nawo, nthawi ya moyo imasiyana malinga ndi mtundu wa matenda a majini.

Kodi ndimadzisamalira bwanji?

Dokotala wanu adzapanga dongosolo la chithandizo lomwe lili loyenera kwa inu. Izi zingaphatikizepo kumwa mankhwala owonjezera, kusintha zakudya, komanso kusintha moyo wanu. Ndikofunikira kutsatira malangizo a dokotala wanu molondola. Onetsetsani kuti mwapita kuchipatala nthawi yake ndikumwa mankhwala anu monga momwe mwalangizidwira.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muli ndi zizindikiro za matenda a Fanconi, kapena matenda ena aliwonse omwe takambirana omwe angayambitse matendawa, pitani kuchipatala nthawi yomweyo. Kuzindikira msanga n'kosavuta kuchiza ndipo kungathandize kuchepetsa mavuto.

Ndi mafunso ati omwe muyenera kufunsa dokotala?

• Kodi mungadziwe bwanji ngati ndili ndi matenda a Fanconi?
• Ndi mayeso amtundu wanji omwe amachitidwa kuti adziwe izi?
• Kodi ndi chinthu chomwe ndinabadwa nacho kapena ndi chinthu chomwe ndinakula nacho pambuyo pake?
• Kodi chifukwa cha matenda a Fanconi ndi chiyani?
• Kodi ndiyenera kuwona katswiri?
• Ndi zakudya zina ziti zomwe ndiyenera kudya?
• Kodi chiopsezo changa cha kulephera kwa impso ndi chiyani?
• Kodi ndikufunika kuikidwa impso?
• Kodi ndiyenera kuyezetsa majini?
• Kodi ndiyenera kubwera kangati kudzayang'anira vuto langa?
• Kodi pali magulu othandizira anthu omwe ali ndi matenda a Fanconi?

Kodi pali kusiyana kotani pakati pa Fanconi Syndrome ndi Fanconi Anemia?

Ichi ndi chinthu chomwe anthu ambiri amasokonezeka nacho. Fanconi syndrome ndi Fanconi anemia ndi matenda awiri osiyana kwambiri.

• Matenda a Fanconi ndi vuto lomwe impso sizingathe kuyamwanso zinthu zomwe thupi limafunikira.
• Matenda a Fanconi anemia ndi matenda osowa, obadwa nawo omwe amakhudza mafupa. Pa vutoli, mafupa sangathe kupanga maselo amagazi abwinobwino. Amawonjezeranso chiopsezo chotenga khansa ya m'magazi ndi mitundu ina ya khansa.

Kotero, mutha kuwona momwe awiriwa alili osiyana.

Pomaliza, zinthu zoti muzikumbukira (Uthenga Wopita Nawo Kunyumba)

Matenda a Fanconi ndi matenda osowa omwe amakhudza impso, koma ndikofunikira kudziwa za matendawa. Amachititsa kuti thupi litaye michere yofunika kudzera mu mkodzo. Amatha kukhalapo munthu akangobadwa kapena kukula mtsogolo pazifukwa zina.

Mungamve mantha komanso nkhawa mukamva za matendawa. Komabe, ndi mankhwala apamwamba amakono, anthu ambiri amatha kukhala ndi moyo wabwinobwino. Ngati muli ndi mafunso okhudza izi, lankhulani ndi dokotala. Iye akhoza kuyankha mafunso anu, kukutumizani kwa katswiri ngati pakufunika kutero, kapena kupereka chidziwitso chokhudza magulu othandizira. Musachite mantha, ndipo tsatirani upangiri woyenera wachipatala.

Fanconi Syndrome, Matenda a Impso, Matenda a Majini, Ma Electrolyte, Matenda a Mkodzo, Thanzi la Ana, Zotsatirapo za Mankhwala