Ingabe unezinkinga ngezinso zakho? Ake sixoxe nge-Fanconi Syndrome!

Ingabe uzizwa womile ngendlela engenakucatshangwa ngaso sonke isikhathi? Noma uma kuyingane encane, ingabe uke waqaphela ubuhlungu emzimbeni wayo kanye namathambo ayo abuthakathaka? Ngezinye izikhathi, ngemuva kwalezi zimpawu, kungase kube nesifo esingakazwa kakhulu ngaso, kodwa kubaluleke kakhulu ukwazi ngaso. Esinye sezimo ezinjalo yiFanconi Syndrome. Namuhla, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Iyini i-Fanconi Syndrome?

Kalula nje, i-Fanconi syndrome yisimo esenzeka lapho uhlelo olubucayi kakhulu lweziteshi ezinso zethu, ikakhulukazi ama-proximal tubules, lungasebenzi kahle. Manje cabanga ngakho ngale ndlela: izinso zethu zifana nohlelo lokuhlunga olukhulu emzimbeni wethu. Zihlunga igazi futhi zisuse ukungcola njengomchamo. Ziphinde zimunce izakhamzimba ezibalulekile, njenge -electrolytes kanye ne-glucose.

Kodwa-ke, ezinso zomuntu one-Fanconi syndrome, lawa ma-proximal tubules awasebenzi kahle. Okwenzekayo ukuthi izinto ezibalulekile emzimbeni aziphinde zimuncwe emzimbeni futhi zikhishwa emchameni. Ngamanye amazwi, izinto eziyigugu ziyachithwa.

Phakathi kwezinto ezibalulekile ezikhishwa emzimbeni ngale ndlela, okulandelayo kuyatholakala kakhulu:

• I-Phosphorus
• I-glucose
• I-Potassium
• I-Bicarbonate
• I-asidi ye-uric
• Ama-amino acid

Lezi zinto ziyadingeka cishe kuzo zonke izinqubo emzimbeni wethu. Ngakho-ke, uma lezi sezinciphile, izinkinga ziqala ukuvela.

Ubani ongaba ne-Fanconi syndrome?

Lesi yisifo esingathinta noma ubani ngempela. Kunezindlela ezimbili eziyinhloko esingase sivele ngazo.

1. I-Fanconi Syndrome Ezuzwe Njengefa: Lesi yisimo sofuzo, okusho ukuthi sizuzwe njengefa kumama noma kubaba.

2. I-Acquired Fanconi Syndrome: Lesi simo singase senzeke ngesikhathi esithile empilweni, ngezinye izizathu.

Ziyini izimpawu ze-Fanconi syndrome?

Izimpawu zingase zihluke kancane kuye ngokuthi zizalwa nazo noma zitholwe.

Izimpawu ze-Fanconi syndrome yokuzalwa:

• Ukuchama njalo: Ukuchama kaningi kunokujwayelekile.
• Ukuphelelwa amanzi emzimbeni: Ukuntuleka kwamanzi emzimbeni.
• Ukoma njalo (i-Polydipsia): Ukuzizwa sengathi awutholi amanzi anele kungakhathaliseki ukuthi uphuza kangakanani.
• Ubuhlungu bamathambo: Ungase uzwe ubuhlungu emzimbeni wakho, ikakhulukazi emathanjeni akho.
• Ubuthakathaka bemisipha.
• Amathambo abuthakathaka: Amathambo angaphuka kalula futhi aphuke kalula.
• Ukuphuka kwamathambo: Ngisho nokuwa okuncane kungabangela ukuba ithambo liphuke.
• Ubude obuncane: Ungase ube mfushane kunabanye abangontanga efanayo.

Izimpawu zakamuva ze-Fanconi syndrome:

• Ubuthakathaka bemisipha.
• Amazinga aphansi e-phosphate egazini (i-Hypophosphatemia): Lokhu kungabangela izinkinga zamathambo.
• Amazinga aphansi e-potassium egazini (i-Hypokalemia): Lokhu kungathinta nesilinganiso senhliziyo.
• I-Hyperaminoaciduria ukuba khona kwama-amino acid amaningi emchameni.
• Ukwanda kwe-asidi emzimbeni (i-Metabolic acidosis): Lokhu kungabangela ukukhathala nobunzima bokuphefumula.
• Ukuchama njalo.
• Ukuphelelwa amanzi emzimbeni.
• Ukoma njalo.

Manje usuyabona ukuthi ezinye zalezi zimpawu ziyafana, ngakho-ke kungcono ukufuna iseluleko sezokwelapha ukuze uthole ukuthi kwenzekani ngempela.

Yini ebangela i-Fanconi syndrome?

Kungaba nezizathu eziningi. Ake sizihlukanise zibe izingxenye ezimbili.

Izimbangela ze-Fanconi syndrome yokuzalwa:

Lezi ngokuvamile ziyizimo zofuzo.

• I-Cystinosis: Lokhu kubangelwa ukuqongelela kwe-amino acid cystine emzimbeni. Kungathinta izingxenye eziningi zomzimba, okuhlanganisa izinso, amehlo, imisipha, inhliziyo, kanye nobuchopho. Yimbangela eyinhloko ye-congenital Fanconi syndrome.
• I-Lowe syndrome: Lesi futhi yisimo esingavamile sofuzo esixhunyaniswe ne-chromosome X. Sithinta amehlo, izinso kanye nobuchopho. Izimpawu zivame ukubonakala lapho umuntu ezalwa.
• Isifo sikaWilson: Kulesi simo, umzimba awukwazi ukususa ithusi ngendlela efanele. Uma ithusi liqoqana, lingalimaza isibindi, ubuchopho, izinso kanye namehlo.
• Ukungabekezelelani kwe-fructose okuzuzwe njengefa: Lokhu kubangelwa ukuntuleka kwe-enzyme i-Aldolase B, ebangela ushukela wegazi ophansi (hypoglycemia) uma udla ushukela wezithelo (i-fructose) kanye ne-sucrose, okungathinta isibindi.
• Isifo samazinyo: Lesi futhi yisifo sezinso esingavamile. Singabangela amaprotheni emchameni, ukwanda kwe-calcium emchameni, ukufakwa kwe-calcium kuma-renal tubules (Nephrocalcinosis), amatshe ezinso, futhi ekugcineni ukwehluleka kwezinso (Isifo sezinso esingamahlalakhona). Sivela kakhulu kwabesilisa.
• I-Glycogenosis: Lesi yisimo sofuzo esibangelwa ukukhubazeka kweprotheni ebizwa ngokuthi i-GLUT2, ethwala i-glucose. Yaziwa nangokuthi i-Fanconi Bickel syndrome.
• Uhlobo lwe-tyrosinemia oluyifa: Lokhu kuyiphutha ekugayweni kwe-amino acid tyrosine, okungathinta isibindi, imizwa, nezinso, okuholela ku-Fanconi syndrome.

Izimbangela zokuqala kwe-Fanconi syndrome kamuva:

• Eminye imithi:Lesi simo singaba umphumela omubi wemithi ethile, njengemithi elwa namagciwane, imithi ye-HIV/AIDS, kanye nemithi ye-chemotherapy, engalimaza izinso.
• Ukufakelwa kwezinso: Lokhu kungenzeka ngenxa yemithi esetshenziswa ngemva kokufakelwa izinso, ukulimala kwezinso ngesikhathi sokuhlinzwa, noma ukwenqatshwa kwezinso ezifakwe kwenye indawo.
• I-Multiple myeloma: Lona umdlavuza wamaseli e-plasma egazini. Iphrotheni engajwayelekile ekhiqizwa yilawa maseli ingathinta izinso, ibangele i-Fanconi syndrome.
• I-AL amyloidosis (i-amyloidosis eyinhloko): Kulesi simo, iphrotheni emaseli e-plasma iba yinto engajwayelekile futhi ithinta izitho eziningana, okuhlanganisa nezinso.
• I-Light chain proximal tubulopathy (LCPT): Kulesi simo, amaprotheni angajwayelekile nawo afakwa ezinso.
• Ubuthi bomthofu: Ukuchayeka kakhulu kumthofu nakho kuyimbangela. Upende omdala, amabhethri athile, kanye neminye imithi yendabuko nakho kungase kube nomthofu, ngakho-ke qaphela.
• Ukuchayeka ku-Toluene: I-Toluene iyikhemikhali etholakala ezinsinini, opende, kanye noketshezi lokuhlanza insimbi. Ukuhogela lokhu (isib., ukunuka insini) kungabangela i-Fanconi syndrome.
• Eminye imithi yamakhambi: Eminye imithi yamakhambi equkethe i-aristolochic acid nayo itholakale ihlotshaniswa nalokhu. Ngakho-ke, akukhuthazwa ukusebenzisa izinto ezinjalo ngaphandle kweseluleko sikadokotela.

Yimiphi imithi ethile ebangela i-Fanconi syndrome?

Ngokuvamile, lezi zinhlobo zemithi zitholakale njengezingabangela i-Fanconi syndrome:

• I-Cisplatin `(Cisplatin)`
• I-Ifosfamide
• I-Tenofovir
• I-asidi ye-Valproic `(i-asidi ye-Valproic)`
• Ama-antibiotic e-Aminoglycoside, njenge-Gentamicin
• I-Deferasirox `(Deferasirox)`

Akuwona wonke umuntu osebenzisa lo muthi ozokuthola lokhu, kodwa kukhona ingozi. Ngakho-ke uma udokotela ekunike lo muthi, uzokuqapha.

Ingabe i-Fanconi syndrome iyathelelana?

Cha. Lesi akusona isifo esithelelanayo. Asisabalaliswa kusuka komunye umuntu kuya komunye ngokuxhumana okuseduze.

I-Fanconi syndrome itholakala kanjani?

Udokotela uzokubuza ngezimpawu zakho kanye nemithi oyiphuzayo. Ngemuva kwalokho bazokwenza ukuhlolwa ngokomzimba. Bangase benze nokuhlolwa okuthile ukuqinisekisa ukuxilongwa. Ungathunyelwa futhi kudokotela ochwepheshe bezifo zezinso (Nephrologist).

Yiziphi izivivinyo ezenziwayo ngalokhu?

Ngokuyinhloko kwenziwa ukuhlolwa komchamo negazi.

• Ukuhlolwa komchamo / Ukuhlolwa komchamo:Bazothatha isampula yomchamo kuwe bese behlola ukuthi unamazinga aphezulu yini ezinto ezifana ne-glucose, ama-amino acid, kanye ne-phosphate. Uma lokhu kuphezulu, kuyisibonakaliso se-Fanconi syndrome.
• Ukuhlolwa kwegazi: Ukuhlolwa kwegazi kuhlola amazinga aphansi e-phosphate, i-bicarbonate, kanye ne-potassium. Amazinga aphansi alokhu nawo ayisibonakaliso salesi sifo.

Udokotela wenza ukuxilongwa ngokusekelwe olwazini olutholwe kulezi zivivinyo.

Ingabe i-Fanconi syndrome ingelapheka?

Lokhu kuncike embangela yesifo.

• Izimo zofuzo ezibangela i-Fanconi syndrome zivame ukuba nzima ukuzelapha ngokuphelele. Kodwa-ke, izinguquko zokudla kanye nokwelashwa kungasiza ekulawuleni izimpawu futhi kuthuthukise ikhwalithi yokuphila.
• Uma imbangela ye- Fanconi syndrome itholakala futhi yelashwa, izinso zingalulama ngezinye izikhathi. Kodwa-ke, lokhu akuqinisekisi ngaso sonke isikhathi. Kodwa-ke, izimpawu zingalawulwa futhi umonakalo ezinso, emisipheni nasemathanjeni ungancishiswa.

Iphathwa kanjani i-Fanconi syndrome?

Indlela yokwelapha nayo iyahlukahluka kuye ngokuthi imbangela kanye nobunzima besifo.

1. Ukwelapha imbangela eyinhloko: Udokotela uzoqala ngokwelapha isimo esiyisisekelo esibangele i-Fanconi syndrome. Isibonelo, uma sibangelwa umuthi, umuthi ungase uyekwe noma umthamo ungancishiswa.

2. Ukugcwalisa umzimba: Umzimba ugcwaliswa ngezakhamzimba ezibalulekile (ama-electrolyte, uketshezi) ezilahleka ngomchamo. Lokhu kungenziwa ngokushintsha ukudla, izithasiselo zomlomo, noma ukufakwa ngemithambo yegazi (IV).

3. Ukulawula i-asidi emzimbeni (i-Metabolic acidosis): Njengoba abantu abaningi bebhekana nalesi simo, izinto ezifana ne-sodium bicarbonate zinganikezwa ukuze kubuyiselwe inani le-pH egazini (isikali se-pH).

4. Kulabo abanamazinga aphansi e-phosphate: Njengoba amazinga aphansi e-phosphate enza amathambo abe buthaka, izithasiselo ze-phosphate kanye ne-vitamin D zinganikezwa.

5. Ukudla okukhethekile kwezimo zokuzalwa: Uma ingane izalwa ne-Fanconi syndrome, ingadinga ukudla okulungiselelwe ngokukhethekile. Isibonelo, kungadingeka inciphise ukudla okuqukethe i-fructose, i-galactose, noma i-tyrosine. Lokhu kuncike esimweni sofuzo esiyisisekelo.

Into ebaluleke kakhulu ukulandela imiyalelo kadokotela. Uma uzama ukwenza izinto wedwa, isimo singase sibe sibi kakhulu.

Ngizolulama ngokushesha kangakanani ngemva kokwelashwa?

Lokhu kungahluka kakhulu kuye ngokuthi imbangela iyini. Amanye amacala e-Fanconi syndrome aqala kamuva angaphela ezinsukwini noma emavikini ambalwa. Kodwa-ke, ezinye izimo zokuzalwa kanye neziqala kamuva zingaba zesikhathi eside. Ngakho-ke, kubalulekile ukuba nesineke futhi uthathe ukwelashwa.

Ingabe i-Fanconi syndrome ingavinjelwa?

Akukho esingakwenza ukuvimbela izimo zofuzo ezikhona lapho kuzalwa. Kodwa-ke, kunezinto ezithile esingazenza ukuze sizivikele ekuthuthukisweni yi-Fanconi syndrome kamuva :

• Gwema ukuchayeka ku-lead. I-lead ingatholakala kupende wendlu endala, amathoyizi athile, kanye namapayipi amanzi ane-lead.
• Khuluma nodokotela ngaphambi kokusebenzisa izithasiselo zemithi noma ezinye izithako. Ezinye zazo zingaba yingozi ezinso.
• Khuluma nodokotela wakho ngezingozi zanoma yimiphi imithi (isib. ama-antibiotic, imithi yokulwa nomdlavuza) ayinikezayo. Uma imithi idingeka, udokotela uzonakekela nezinso zakho.

Yini ongayilindela uma une-Fanconi syndrome?

Namuhla, odokotela nabacwaningi bazi okuningi nge-Fanconi syndrome nokuthi bangayelapha kanjani. Izindlela zokwelapha ezintsha zivumele abantu abaningi ukuba baphile impilo evamile.

• I-Congenital Fanconi syndrome: Izimpawu zivame ukuvela ebuntwaneni. Uma lokhu kubangelwa yi-cystinosis, ingane ingaba nezinkinga zokukhula kanye nokukhula kwesisindo. Ukwehluleka kwezinso kungase kwenzeke kusenesikhathi. Ezinye izitho zomzimba, njengamehlo, isibindi, namathambo, nazo zingathinteka.
• I-Fanconi syndrome eqala kamuva: Uma imbangela isitholakele futhi yelashwa, izinso zingase zilulame. Kodwa-ke, ngezinye izikhathi umonakalo wezinso ungaba unomphela.

Ungaphila isikhathi esingakanani une-Fanconi syndrome?

Akunakwenzeka ukusho ukuthi lokhu kuzohlala isikhathi esingakanani. Uma usebenza ngokwendlela efanele yokwelashwa kanye nohlelo lwezokwelapha, ungaphila impilo evamile. Kodwa-ke, uma izinso zakho zihluleka, isikhathi sakho sokuphila singancipha. Ezimweni zezimo zokuzalwa, isikhathi sokuphila siyahlukahluka kuye ngohlobo lwesifo sofuzo.

Ngizinakekela kanjani?

Udokotela wakho uzokwakha uhlelo lokwelashwa olukufanele. Lokhu kungafaka phakathi ukuthatha izithasiselo, ukwenza izinguquko ekudleni, kanye nokwenza izinguquko endleleni yokuphila. Kubalulekile ukulandela imiyalelo kadokotela wakho ngqo. Qiniseka ukuthi uthola ukuhlolwa kwakho ngesikhathi futhi uthatha imithi yakho njengoba uyalelwe.

Kufanele ngimbone nini udokotela?

Uma unezimpawu ze-Fanconi syndrome, noma ezinye zezimo esixoxe ngazo ezingase ziyibangele, bonana nodokotela ngokushesha. Ukutholwa kusenesikhathi kulula ukukwelapha futhi kunganciphisa izinkinga.

Yimiphi imibuzo okufanele uyibuze udokotela?

• Wazi kanjani ukuthi ngine-Fanconi syndrome?
• Hlobo luni lokuhlolwa olwenziwayo ukuze kutholakale lokhu?
• Ingabe yinto engazalwa nayo noma yinto engakhula ngayo kamuva?
• Iyini imbangela ye-Fanconi syndrome yami?
• Ingabe kufanele ngibone uchwepheshe?
• Yiziphi izakhamzimba ezengeziwe okufanele ngizithathe?
• Iyini ingozi yami yokwehluleka kwezinso?
• Ingabe ngizodinga ukufakelwa izinso?
• Ingabe kufanele ngithole ukuhlolwa kofuzo?
• Kufanele ngize kangaki ukuzohlola isimo sami?
• Ingabe kukhona amaqembu okusekela abantu abane-Fanconi syndrome?

Uyini umehluko phakathi kwe-Fanconi Syndrome ne-Fanconi Anemia?

Lokhu kuyinto abantu abaningi abadideka ngayo. I-Fanconi syndrome kanye ne-Fanconi anemia yizimo ezimbili ezihluke ngokuphelele.

• I-Fanconi syndrome iyinkinga lapho izinso zingakwazi ukumunca kabusha izinto ezidingwa ngumzimba.
• I-Fanconi anemia yisifo esingavamile, esizuzwe njengefa esithinta umongo wamathambo. Kulesi simo, umongo wamathambo awukwazi ukukhiqiza amangqamuzana egazi anempilo. Futhi kwandisa ingozi yokuthola i-leukemia kanye nezinye izinhlobo zomdlavuza.

Ngakho-ke, ungabona ukuthi laba ababili bahluke kanjani.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Fanconi Syndrome yisimo esingavamile esithinta izinso, kodwa kubalulekile ukuqaphela. Sibangela ukuthi umzimba ulahlekelwe izakhamzimba ezibalulekile ngomchamo. Singaba khona lapho sizalwa noma sikhule kamuva ekuphileni ngezinye izizathu.

Ungase uzizwe wesaba futhi ukhathazekile uma uzwa ngalesi sifo. Kodwa-ke, ngemithi ethuthukisiwe yanamuhla, abantu abaningi bayakwazi ukuphila impilo evamile. Uma unemibuzo ngalokhu, khuluma nodokotela. Angaphendula imibuzo yakho, akuthumele kuchwepheshe uma kudingeka, noma akunikeze ulwazi mayelana namaqembu okusekela. Ungesabi, bese ulandela iseluleko sezokwelapha esifanele.

I- Fanconi Syndrome, Isifo Sezinso, Izifo Zofuzo, Ama-Electrolyte, Izinkinga Zomchamo, Impilo Yengane, Imiphumela Engemihle Yezidakamizwa