Ingaba unengxaki ngezintso zakho? Masithethe ngeFanconi Syndrome!

Ngaba usoloko uziva unxaniwe ngendlela engaqhelekanga? Okanye ukuba ngumntwana omncinci, ngaba ukhe waphawula iintlungu emzimbeni wakhe kunye namathambo akhe abuthathaka? Ngamanye amaxesha, emva kwezi mpawu, kunokubakho isifo esingazivanga kangako ngaso, kodwa kubaluleke kakhulu ukwazi ngaso. Esinye sezi meko yiFanconi Syndrome. Namhlanje, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Yintoni iFanconi Syndrome?

Ngamafutshane, iFanconi syndrome yimeko eyenzeka xa inkqubo ebuthathaka kakhulu yemijelo kwizintso zethu, ngakumbi iityhubhu zeproximal, ingasebenzi kakuhle. Khawucinge ngale ndlela: izintso zethu zifana nenkqubo ye-super filter emzimbeni wethu. Zihluza igazi kwaye zisuse inkunkuma njengomchamo. Zikwafunxa izondlo ezibalulekileyo, ezinje ngee -electrolytes kunye neglucose.

Nangona kunjalo, kwizintso zomntu one-Fanconi syndrome, ezi zibizwa ngokuba yi-proximal tubules azisebenzi kakuhle. Okwenzekayo kukuba izinto ezibalulekileyo emzimbeni aziphindi zifunxwe emzimbeni kwaye zikhutshwe emchameni. Ngamanye amazwi, izinto ezixabisekileyo ziyachithwa.

Phakathi kwezinto ezibalulekileyo ezikhutshwa emzimbeni ngale ndlela, ezi zilandelayo zikho kakhulu:

• I-phosphorus
• Iswekile
• I-Potassium
• I-Bicarbonate
• I-asidi ye-Uric
• Ii-amino acids

Ezi zinto ziyimfuneko phantse kuyo yonke inkqubo emzimbeni wethu. Ngoko ke, xa ezi zinto ziphelile, iingxaki ziqala ukuvela.

Ngubani onokuba neFanconi syndrome?

Esi sisifo esinokuchaphazela nabani na ngokwenene. Zimbini iindlela eziphambili esinokwenzeka ngazo.

1. Isifo seFanconi esizuzwe njengelifa: Esi sisifo esibangelwa yimfuza, oko kuthetha ukuba sizuzwe njengelifa kumama okanye kutata.

2. I-Acquired Fanconi Syndrome: Le meko inokwenzeka ngaxa lithile ebomini, ngenxa yezinye izizathu.

Zithini iimpawu zeFanconi syndrome?

Iimpawu zinokwahluka kancinci ngokuxhomekeke ekubeni yinto yokuzalwa okanye efunyenweyo.

Iimpawu zesifo seFanconi esizalwa naso:

• Ukuchama rhoqo: Ukuchama kakhulu kunesiqhelo.
• Ukuphelelwa ngamanzi emzimbeni: Ukungabikho kwamanzi emzimbeni.
• Unxano oluhlala luhleli (i-Polydipsia): Ukuziva ngathi awufumani manzi aneleyo nokuba usela kangakanani na.
• Intlungu yamathambo: Usenokuva iintlungu emzimbeni wakho, ingakumbi emathanjeni akho.
• Ubuthathaka bemisipha.
• Amathambo abuthathaka: Amathambo anokuba buthathaka aze aphuke lula.
• Ukwaphuka kwamathambo: Nokuba ukuwa okuncinci kunokubangela ukuba ithambo liphuke.
• Ubude obuncinci: Usenokuba mfutshane kunabanye abaneminyaka efanayo.

Iimpawu zamva zeFanconi syndrome:

• Ubuthathaka bemisipha.
• Amanqanaba aphantsi e-phosphate egazini (Hypophosphatemia): Oku kunokubangela iingxaki zamathambo.
• Amanqanaba aphantsi e-potassium egazini (i-Hypokalemia): Oku kunokuchaphazela nesantya sentliziyo.
• I-Hyperaminoaciduria kukubakho kwee-amino acids ezigqithisileyo kumchamo.
• Ukwanda kwe-asidi emzimbeni (i-Metabolic acidosis): Oku kunokubangela ukudinwa kunye nobunzima bokuphefumla.
• Ukuchama rhoqo.
• Ukuphelelwa ngamanzi emzimbeni.
• Unxano oluhlala luhleli.

Ngoku uyabona ukuba ezinye zezi mpawu ziyafana, ngoko ke kungcono ukufuna ingcebiso kagqirha ukuze ufumane ukuba kwenzeka ntoni kanye kanye.

Yintoni ebangela iFanconi syndrome?

Zininzi izizathu. Masizihlukanise zibe ngamacandelo amabini.

Izizathu zesifo seFanconi esizalwa naso:

Ezi zihlala ziyimeko yemfuza.

• I-Cystinosis: Oku kubangelwa kukuqokelelana kwe-amino acid cystine emzimbeni. Ingachaphazela iindawo ezininzi zomzimba, kuquka izintso, amehlo, izihlunu, intliziyo, kunye nengqondo. Yiyo eyona nto ibangela i-congenital Fanconi syndrome.
• I-Lowe syndrome: Le yimeko engaqhelekanga yemfuza enxulunyaniswa ne-X chromosome. Ichaphazela amehlo, izintso kunye nengqondo. Iimpawu zihlala zibonakala ekuzalweni.
• Isifo sikaWilson: Kule meko, umzimba awukwazi ukususa i-copper ngendlela efanelekileyo. Xa i-copper iqokelelana, inokonakalisa isibindi, ingqondo, izintso kunye namehlo.
• Ukunganyamezelani ne-fructose okuzuzwe njengelifa: Oku kubangelwa kukungabikho kwe-enzyme i-Aldolase B, ebangela iswekile ephantsi egazini (hypoglycemia) xa kutyiwa iswekile yeziqhamo (fructose) kunye ne-sucrose, enokuchaphazela isibindi.
• Isifo samazinyo: Esi sisifo sezintso esingaqhelekanga. Sinokubangela iproteni kumchamo, ukwanda kwekhalsiyam kumchamo, ukufakwa kwekhalsiyam kwimibhobho yezintso (Nephrocalcinosis), amatye ezintso, kwaye ekugqibeleni ukungasebenzi kakuhle kwezintso (Isifo sezintso esinganyangekiyo). Siyenzeka kakhulu kumadoda.
• I-Glycogenosis: Le yimeko yemfuza ebangelwa sisiphene kwiproteni ebizwa ngokuba yi-GLUT2, ethwala i-glucose. Ikwaziwa ngokuba yi-Fanconi Bickel syndrome.
• Uhlobo lwe-tyrosinemia oludluliselwa kwilifa: Olu luphene kwi-metabolism ye-amino acid tyrosine, enokuchaphazela isibindi, imithambo-luvo kunye nezintso, nto leyo ekhokelela kwi-Fanconi syndrome.

Izizathu zokuqala kwesifo seFanconi kamva:

• Amanye amayeza:Le meko ingenzeka ngenxa yemiphumo emibi yamayeza athile, anje ngee-antibiotics, amayeza e-HIV/AIDS, kunye namayeza e-chemotherapy, anokonakalisa izintso.
• Ukufakelwa kwezintso: Oku kungenzeka ngenxa yamayeza asetyenziswa emva kokufakelwa izintso, umonakalo kwizintso ngexesha lotyando, okanye ukwaliwa kwezintso ezifakelweyo.
• I-multiple myeloma: Lo ngumhlaza weeseli zeplasma egazini. Iproteni engaqhelekanga eveliswa zezi seli inokuchaphazela izintso, ibangele iFanconi syndrome.
• I-AL amyloidosis (i-amyloidosis ephambili): Kule meko, iproteni kwiiseli zeplasma iba yinto engaqhelekanga kwaye ichaphazela amalungu amaninzi, kuquka nezintso.
• I-Light chain proximal tubulopathy (LCPT): Kule meko, iiproteni ezingaqhelekanga nazo ziyagcinwa kwizintso.
• Ityhefu yelothe: Ukuchanabeka kakhulu kwilothe nako kunokubangela loo nto. Iipeyinti ezindala, iibhetri ezithile, kunye namayeza esintu nazo zinokuba nelothe, ngoko ke lumka.
• Ukuchaphazeleka yiToluene: IToluene yikhemikhali efumaneka kwiintsini, kwiipeyinti, nakwiincindi zokucoca isinyithi. Ukuphefumla ezi (umz., ukuvumba intsini) kunokubangela iFanconi syndrome.
• Amanye amayeza ezityalo: Amanye amayeza ezityalo ane-aristolochic acid nawo afunyenwe enxulumene noku. Ke ngoko, akucetyiswa ukusebenzisa izinto ezinjalo ngaphandle kwengcebiso kagqirha.

Ngawaphi amayeza athile abangela iFanconi syndrome?

Ngokubanzi, ezi ntlobo zamachiza zichongiwe njengezona zinokubangela iFanconi syndrome:

• ICisplatin `(Cisplatin)`
• Ifosfamide
• I-Tenofovir
• I-asidi yeValproic `(i-asidi yeValproic)`
• Amayeza okubulala iintsholongwane e-Aminoglycoside, njengeGentamicin
• I-Deferasirox `(Deferasirox)`

Asinguye wonke umntu osebenzisa eli yeza oza kulifumana eli yeza, kodwa kukho umngcipheko. Ngoko ke ukuba ugqirha unika eli yeza, uza kukubeka esweni.

Ngaba isifo seFanconi siyasulela?

Hayi. Esi asisosifo sisasazekayo. Asisasazeka ukusuka komnye umntu ukuya komnye ngokusondelana.

Ifunyanwa njani iFanconi syndrome?

Ugqirha uza kukubuza ngeempawu zakho kunye namayeza owasebenzisayo. Emva koko baza kwenza uvavanyo lomzimba. Banokwenza novavanyo oluthile ukuqinisekisa ukuxilongwa. Ungathunyelwa kugqirha ochwephesha kwizifo zezintso (Nephrologist).

Zeziphi iimvavanyo ezenziwayo koku?

Ngokuyintloko kwenziwa uvavanyo lomchamo negazi.

• Uvavanyo lomchamo / Uhlalutyo lomchamo:Baza kuthatha isampuli yomchamo kuwe baze bajonge ukuba ingaba unamanqanaba aphezulu ezinto ezifana neglucose, ii-amino acids, kunye ne-phosphate. Ukuba ezi zinto ziphezulu, luphawu lweFanconi syndrome.
• Uvavanyo lwegazi: Uvavanyo lwegazi lukwajonga amanqanaba aphantsi e-phosphate, i-bicarbonate, kunye ne-potassium. Amanqanaba aphantsi ezi zinto nawo ayimpawu yesi sifo.

Ugqirha wenza uxilongo ngokusekelwe kulwazi olufunyenwe kwezi mvavanyo.

Ngaba isifo seFanconi sinokunyangeka?

Oku kuxhomekeke kwisizathu sesifo.

• Iimeko zemfuza ezibangela iFanconi syndrome zihlala kunzima ukuzinyanga ngokupheleleyo. Nangona kunjalo, utshintsho kwindlela yokutya kunye nonyango lunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi.
• Ukuba unobangela weFanconi syndrome ufunyenwe kwaye unyangwa, izintso ngamanye amaxesha zinokuphila. Nangona kunjalo, oku akusoloko kuqinisekiswa. Nangona kunjalo, iimpawu zinokulawulwa kwaye umonakalo kwizintso, izihlunu kunye namathambo unokuncitshiswa.

Iphathwa njani iFanconi syndrome?

Indlela yonyango iyahluka ngokuxhomekeke kwisizathu kunye nobunzima besifo.

1. Ukunyanga unobangela oyintloko: Ugqirha uza kuqala anyange imeko engundoqo ebangele iFanconi syndrome. Umzekelo, ukuba ibangelwa liyeza, iyeza linokuyekiswa okanye umthamo ungancitshiswa.

2. Ukuzalisa umzimba: Umzimba uzaliswa zizondlo ezibalulekileyo (ii-electrolytes, ulwelo) ezilahleka ngomchamo. Oku kungenziwa ngokutshintsha ukutya, izongezo zomlomo, okanye ukufakwa kwi-intravenous (IV).

3. Ukulawula i-asidi emzimbeni (i-Metabolic acidosis): Ekubeni abantu abaninzi behlangabezana nale meko, izinto ezifana ne-sodium bicarbonate zinokunikwa ukubuyisela ixabiso le-pH egazini (isikali se-pH).

4. Kwabo banezinga eliphantsi le-phosphate: Ekubeni izinga eliphantsi le-phosphate lisenza amathambo abe buthathaka, izongezo ze-phosphate kunye ne-vitamin D zinokunikwa.

5. Ukutya okukhethekileyo kwiimeko zokuzalwa: Ukuba umntwana uzelwe ene-Fanconi syndrome, unokufuna ukutya okulungiselelwe ngokukodwa. Umzekelo, unokufuna ukunciphisa ukutya okuqulethe i-fructose, i-galactose, okanye i-tyrosine. Oku kuxhomekeke kwimeko yemfuza esisiseko.

Eyona nto ibalulekileyo kukulandela imiyalelo kagqirha. Ukuba uzama ukuzenzela izinto wedwa, imeko isenokuba mandundu.

Ndingaphila ngokukhawuleza kangakanani emva konyango?

Oku kunokwahluka kakhulu ngokuxhomekeke kwisizathu. Amanye amatyala e-Fanconi syndrome akhula kamva anokuphela kwiintsuku okanye iiveki ezimbalwa. Nangona kunjalo, ezinye iimeko zokuzalwa kunye nezokuqala kamva zinokuba zexesha elide. Ke ngoko, kubalulekile ukuba nomonde kwaye uthathe unyango.

Ngaba iFanconi syndrome ingathintelwa?

Akukho nto sinokuyenza ukuthintela iimeko zemfuza ezikhoyo ekuzalweni. Nangona kunjalo, kukho izinto esinokuzenza ukuzikhusela ekufumaneni isifo seFanconi kamva :

• Kuphephe ukuvezwa yilothe. Ilothe ingafumaneka kwipeyinti endala yendlu, kwezinye izinto zokudlala, nakwiipayipi zamanzi ezinelothe.
• Thetha nogqirha ngaphambi kokuba usebenzise izongezo zemifuno okanye ezinye izithako. Ezinye zazo zinokuba yingozi kwizintso.
• Thetha nogqirha wakho malunga neengozi zalo naliphi na iyeza (umz. ii-antibiotics, amayeza okulwa nomhlaza) alinika lona. Ukuba amayeza ayimfuneko, ugqirha uya kunyamekela nezintso zakho.

Yintoni onokuyilindela ukuba uneFanconi syndrome?

Namhlanje, oogqirha nabaphandi bayazi okuninzi ngeFanconi syndrome kunye nendlela yokuyinyanga. Unyango olutsha luye lwavumela abantu abaninzi ukuba baphile ubomi obuqhelekileyo.

• I-Congenital Fanconi syndrome: Iimpawu zihlala zibonakala ebuntwaneni. Ukuba oku kubangelwa yi-cystinosis, umntwana unokuba neengxaki zokukhula kunye nokunyuka kobunzima. Ukungasebenzi kakuhle kwezintso kusenokuqala kwangethuba. Amanye amalungu omzimba, njengamehlo, isibindi, kunye namathambo, nawo anokuchaphazeleka.
• Isifo seFanconi esiqala kamva: Xa unobangela ufunyenwe kwaye wanyangwa, izintso zinokuphila. Nangona kunjalo, ngamanye amaxesha umonakalo kwizintso unokuba ngowonaphakade.

Ungaphila ixesha elingakanani uneFanconi syndrome?

Akunakwenzeka ukutsho ngokuthe ngqo ukuba oku kuza kuhlala ixesha elingakanani. Ukuba usebenza ngokwesicwangciso sonyango esifanelekileyo kunye nesonyango, ungaphila ubomi obuqhelekileyo. Nangona kunjalo, ukuba izintso zakho ziyasilela, ixesha lokuphila kwakho linokuncipha. Kwimeko yeemeko zokuzalwa, ixesha lokuphila liyahluka ngokuxhomekeke kuhlobo lwesifo semfuza.

Ndingazinyamekela njani?

Ugqirha wakho uza kuyila isicwangciso sonyango esifanelekileyo kuwe. Oku kungabandakanya ukuthatha izongezo zokutya, ukwenza utshintsho kwindlela otya ngayo, kunye nokwenza utshintsho kwindlela ophila ngayo. Kubalulekile ukulandela imiyalelo kagqirha wakho ngokuchanekileyo. Qinisekisa ukuba ufumana uhlolo lwakho ngexesha kwaye uthatha amayeza akho njengoko kuyalelwe.

Ndifanele ndimbone nini ugqirha?

Ukuba uneempawu zeFanconi syndrome, okanye naziphi na iimeko esizixubushileyo ezinokubangela esi sifo, bonana nogqirha ngokukhawuleza. Ukufunyaniswa kwangoko kulula ukunyanga kwaye kunokunciphisa iingxaki.

Yeyiphi imibuzo omele uyibuze ugqirha?

• Uyazi njani ukuba ndineFanconi syndrome?
• Luhlobo luni lovavanyo olwenziwayo ukufumanisa oku?
• Ingaba yinto endazalwa nayo okanye yinto endayiphuhlisa kamva?
• Yintoni unobangela weFanconi syndrome yam?
• Ngaba kufuneka ndidibane nengcali?
• Zeziphi izondlo ezongezelelweyo endifanele ndizithathe?
• Ingakanani ingozi yokuba izintso zam zingaphumeleli?
• Ngaba ndiza kufuna ukufakelwa izintso?
• Ngaba kufuneka ndifumane uvavanyo lwemfuza?
• Ndifanele ndize kangaphi ukuza kujonga imeko yam?
• Ngaba kukho amaqela enkxaso kubantu abaneFanconi syndrome?

Yintoni umahluko phakathi kweFanconi Syndrome kunye neFanconi Anemia?

Le yinto ebangela ukudideka kubantu abaninzi. I-Fanconi syndrome kunye ne-Fanconi anemia ziimeko ezimbini ezahlukeneyo ngokupheleleyo.

• I-Fanconi syndrome yingxaki apho izintso zingakwaziyo ukufunxa izinto ezifunekayo emzimbeni.
• I-Fanconi anemia sisifo esingaqhelekanga, esizuzwe njengelifa esichaphazela umongo wamathambo. Kule meko, umongo wamathambo awukwazi ukuvelisa iiseli zegazi ezisempilweni. Kwakhona kwandisa umngcipheko wokuba ne-leukemia kunye nezinye iintlobo zomhlaza.

Ngoko ke, ungabona indlela abahluke ngayo aba bantu babini.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Fanconi Syndrome yimeko engaqhelekanga echaphazela izintso, kodwa kubalulekile ukuyiqonda. Ibangela ukuba umzimba ulahlekelwe zizondlo ezibalulekileyo ngomchamo. Inokubakho xa uzalwa okanye ikhule kamva ebomini ngenxa yezinye izizathu.

Usenokuziva usoyika kwaye uxhalabile xa usiva ngesi sifo. Nangona kunjalo, ngonyango oluphambili lwanamhlanje, abantu abaninzi bayakwazi ukuphila ubomi obuqhelekileyo. Ukuba unemibuzo malunga noku, thetha nogqirha. Angaphendula imibuzo yakho, akuthumele kwingcali ukuba kuyimfuneko, okanye akunike ulwazi malunga namaqela enkxaso. Musa ukoyika, kwaye ulandele iingcebiso zonyango ezifanelekileyo.

Isifo seFanconi , Isifo sezintso, Izifo zofuzo, ii-electrolyte, iingxaki zomchamo, impilo yomntwana, iziphumo ebezingalindelekanga zamayeza