Chii chinonzi Fanconi Syndrome?

Zvemukati

• Zviratidzo zveFanconi syndrome
• Zvinokonzera Fanconi syndrome
• Yakagara nhaka FS
• Yakawanikwa FS
• Kuongororwa kweFanconi syndrome
• Vacheche nevana vane nhaka yeFS
• Yakawanikwa FS
• Zvakajairwa zvisirizvo
• Kurapa kweFanconi syndrome
• Kurapa cystinosis
• Yakawanikwa FS
• Maonero eFanconi syndrome

Mhedziso

Fanconi syndrome (FS) chirwere chisingawanzoitika chinokanganisa kusefa machubhu (anowedzera tubules) yeitsvo. Dzidza zvakawanda nezve zvikamu zvakasiyana zveitsvo uye ona dhayagiramu pano.

Kazhinji, ma proximal tubules anodzokororazve mamineral uye zvinovaka muviri (metabolites) muropa iro rinodiwa kuti riite mushe. MuFS, mahubhu anowedzera panzvimbo peanoburitsa huwandu hwakawanda hweaya akakosha emetabolites mumugini. Izvi zvinhu zvakakosha zvinosanganisira:

• mvura
• shuga
• phosphate
• bicarbonates
• carnitine
• potasium
• uric asidhi
• amino acids
• mamwe mapuroteni

Itsvo dzako dzinosefa anenge 180 litita (190.2 marita) emvura pazuva. Kupfuura 98 muzana yeiyi inofanirwa kuiswa zvakare muropa. Iyi haisi iyo nyaya neFS. Iko kunoguma kushomeka kwakakosha kwemametabolite kunogona kukonzera kupera simba, kupera kwemabhonzo, uye kutadza kubudirira.

Kune mishonga iriko inogona kunonoka kana kumisa kufambira mberi kweFS.

FS inowanzo kugara nhaka. Asi zvakare inogona kuwanikwa kubva kune mamwe madhiragi, makemikari, kana zvirwere.

Inotumidzwa zita raSwitzerland chiremba wevana Guido Fanconi, uyo akatsanangura kusagadzikana muma1930. Fanconi akatangawo kutsanangura kushomeka kweanemia, Fanconi anemia. Ichi chiitiko chakasiyana zvachose chisingaenderane neFS.

Zviratidzo zveFanconi syndrome

Zviratidzo zvekugara nhaka FS zvinogona kuoneka kubvira paucheche. Zvinosanganisira:

• nyota yakanyanyisa
• kunyanyisa kuita weti
• kurutsa
• kutadza kubudirira
• kunonoka kukura
• kushaya simba
• rickets
• pasi mhasuru toni
• corneal kusagadzikana
• chirwere cheitsvo

Zviratidzo zvekuwanikwa FS zvinosanganisira:

• chirwere chepfupa
• kushaya simba kwetsandanyama
• yakaderera ropa phosphate yevasungwa (hypophosphatemia)
• yakaderera ropa potasiyamu mazinga (hypokalemia)
• zvakawandisa amino acids mumurini (hyperaminoaciduria)

Zvinokonzera Fanconi syndrome

Yakagara nhaka FS

Cystinosis ndiyo inonyanya kukonzera FS. Icho chirwere chisingawanzo gamuchirwa nhaka. Mu cystinosis, iyo amino acid cystine inoungana mumuviri wese. Izvi zvinotungamira mukunonoka kukura uye dzakateedzana kusagadzikana, senge mapfupa akaremara. Iyo yakajairika uye yakaoma (kusvika 95 muzana) fomu yecystinosis inowanikwa muvacheche uye inosanganisira FS.

Ongororo ya2016 inofungidzira 1 mune ese 100 000 kusvika 200,000 vacheche vane cystinosis.

Zvimwe zvirwere zvakagamuchirwa zvemagetsi zvinogona kuve nehukama neFS zvinosanganisira:

• Lowe chirwere
• Chirwere chaWilson
• kusagadzikana kusagadzikana kwefructose

Yakawanikwa FS

Zvinokonzera kuwanikwa FS zvakasiyana. Zvinosanganisira:

• kuratidzwa kune imwe chemotherapy
• kushandiswa kwemishonga yemaARV
• kushandiswa kwemishonga inorwisa mabhakitiriya

Zvinokachidza mhedzisiro kubva kurapa zvinodhaka ndizvo zvinonyanya kukonzera. Kazhinji zviratidzo zvinogona kurapwa kana kudzoserwa.

Dzimwe nguva chikonzero chekuwanikwa kweFS hachizivikanwe.

Iyo anticancer mishonga inosangana neFS inosanganisira:

• ifosfamide
• cisplatin uye carboplatin
• azacitidine
• chemura
• suramin (inoshandiswawo kurapa hutachiona hwehutachiona)

Mimwe mishonga inokonzeresa FS mune vamwe vanhu, zvinoenderana nedosi uye mamwe mamiriro. Izvi zvinosanganisira:

• Yakapera tetracyclines. Zvigadzirwa zvekuparara kwemaantibioti akapera mumhuri ye tetracycline (anhydrotetracycline uye epitetracycline) zvinogona kukonzera zviratidzo zveFS mukati memazuva.
• Aminoglycoside mishonga inorwisa mabhakitiriya. Izvi zvinosanganisira gentamicin, tobramycin, uye amikacin. Kusvika pa25 muzana yevanhu vanorapwa neaya maantibhakitiriya anovandudza zviratidzo zveFS, inodaro ongororo ya2013.
• Anticonvulsants. Valproic acid mumwe muenzaniso.
• Mishonga inorwisa utachiona. Izvi zvinosanganisira didanosine (ddI), cidofovir, uye adefovir.
• Fumaric asidhi. Mushonga uyu unorapapsoriasis.
• Ranitidine. Ichi chinodhaka chinotakura maronda.
• Boui-ougi-tou. Uyu mushonga weChinese unoshandiswa kufutisa.

Mimwe mamiriro akasanganiswa nezviratidzo zveFS anosanganisira:

• chisingaperi, chinodhakisa kushandiswa
• glue kunhuwa
• kuratidzwa nesimbi inorema uye makemikari epabasa
• vhitamini D kushomeka
• kuisirwa itsvo
• akawanda myeloma
• amyloidosis

Iyo chaiyo mashandiro anobatanidzwa neFS haina kunyatsotsanangurwa.

Kuongororwa kweFanconi syndrome

Vacheche nevana vane nhaka yeFS

Kazhinji zviratidzo zveFS zvinoonekwa pakutanga paucheche uye paudiki. Vabereki vanogona kucherechedza yakanyanyisa nyota kana kunonoka kupfuura zvakajairika kukura. Vana vanogona kunge vaine rickets kana itsvo matambudziko.

Chiremba wemwana wako acharaira kuongororwa kweropa uye neweti kuti aongorore kusagadzikana, senge huwandu hwakawanda hweglucose, phosphates, kana amino acids, uye kutonga zvimwe zvingangoitika. Vanogona zvakare kutarisa cystinosis nekutarisa iyo cornea yemwana pamwe nekutsemurwa kwemwenje. Izvi zvinodaro nekuti cystinosis inokanganisa maziso.

Yakawanikwa FS

Chiremba wako anozokumbira nhoroondo yako kana yemwana wako yekurapa, kusanganisira chero zvinodhaka iwe kana mwana wako zvauri kutora, zvimwe zvirwere zviripo, kana kufumurwa kwebasa. Vachagadzirirawo kuongororwa kweropa uye neweti.

Mune yakawanikwa FS, iwe haugone kucherechedza zviratidzo ipapo. Mapfupa neitsvo zvinogona kukuvadzwa nenguva yekuongororwa.

Kuwana FS kunogona kukanganisa vanhu chero zera.

Zvakajairwa zvisirizvo

Nekuti FS chirwere chisingawanzoitika, vanachiremba vanogona kunge vasina kujairana nacho. FS inogona kunge iripo pamwe chete nezvimwe zvirwere zvisingawanzoitiki, zvakadai se:

• cystinosis
• Chirwere chaWilson
• Chirwere chemeno
• Lowe chirwere

Zviratidzo zvinogona kuve zvichinzi kune zvimwe zvirwere zvinozivikanwa, kusanganisira mhando 1 chirwere cheshuga. Zvimwe zvisizvo zvisirizvo zvinosanganisira zvinotevera:

• Kukura kwakadzikira kunogona kuve kunzi kune cystic fibrosis, kusingaperi kwekushaya chikafu, kana hutachiona hwakanyanya.
• Rickets inogona kuverengerwa kushomeka kwevhitamini D kana marudzi enhengo dzerickets.
• Itsvo kusagadzikana kunogona kunzi kune kune mitochondrial kusagadzikana kana zvimwe zvisingawanzo zvirwere.

Kurapa kweFanconi syndrome

Kurapa kweFS kunoenderana nekuomarara kwayo, chikonzero, uye kuvapo kwezvimwe zvirwere. FS haigone kurapwa asi, asi zviratidzo zvinogona kudzorwa. Pakutanga kuongororwa uye kurapwa, zvirinani maonero.

Kune vana vane FS inogarwa nhaka, mutsetse wekutanga wekurapa kutsiva izvo zvakakosha zvinhu zviri kubviswa zvakawandisa neitsvo dzakakuvara. Kutsiva kwezvinhu izvi kungave nemuromo kana nekumukisa. Izvi zvinosanganisira kutsiva kwe:

• electrolyte
• bicarbonates
• potasium
• vhitamini D
• phosphates
• mvura (kana mwana apera mvura)
• zvimwe zvicherwa uye zvinovaka muviri

Chikafu chepamusoro-koriori chinokurudzirwa kuchengetedza kukura kwakakodzera. Kana mapfupa emwana akaremara, varapi vemuviri uye nyanzvi dzemabhonzo vangadaidzwe.

Kuvapo kwehumwe hutachiona hutachiona kunogona kuda kuwedzerwa kurapwa. Semuenzaniso, kudya kwakaderera-mhangura kunokurudzirwa kune vanhu vane chirwere cheWilson.

Mu cystinosis, FS inogadziriswa neakabudirira itsvo kuisazve zvichitevera kutadza kwerutsvo. Izvi zvinofungidzirwa kurapwa kwechirwere chiri pasi, pane kurapwa kweFS.

Kurapa cystinosis

Zvakakosha kutanga kurapwa nekukurumidza sezvinobvira kune cystinosis. Kana FS uye cystinosis zvisina kurapwa, mwana anogona kuve neitsvo kukundikana nezera regumi.

IU.S.Food and Drug Administration yakabvumidza mushonga unoderedza huwandu hwecystine mumasero. Cysteamine (Cystagon, Procysbi) inogona kushandiswa nevana, kutanga nedosi yakaderera uye kushanda kusvika padanho rekuchengetedza. Kushandiswa kwaro kunogona kunonoka kudiwa kwekuisirwa itsvo kwemakore matanhatu kusvika gumi. Nekudaro, cystinosis chirwere chehurongwa. Zvinogona kukonzera matambudziko nedzimwe nhengo.

Mimwe mishonga ye cystinosis inosanganisira:

• cysteamine madonhwe eziso kudzikisa cystine inoiswa muiyo cornea
• kukura kemikari kutsiva
• itsvo kuisazve

Kune vana uye vamwe vane FS, kuenderera mberi kwekutarisa kunokosha. Zvakakoshawo kuti vanhu vane FS vange vachienderana mukutevera chirongwa chavo chekurapa.

Yakawanikwa FS

Kana icho chinhu chinokonzeresa FS chikaregwa kana kuti chirwere chacho chakadzikira, itsvo dzinopora nekufamba kwenguva. Mune zvimwe zviitiko, kukuvara kweitsvo kunogona kuenderera.

Maonero eFanconi syndrome

Maonero eFS ari nani kwazvo nhasi kupfuura zvayaive makore apfuura, apo hupenyu hwevanhu vane cystinosis neFS hwaive hupfupi. Kuwanikwa kwecysteamine neitsvo kuisirwa zvinogonesa vanhu vazhinji vane FS uye cystinosis kuti vatungamire hupenyu hwakajairika uye hwakareba.

Tekinoroji nyowani iri kugadzirirwa kuongorora vacheche uye vacheche vecystinosis uye FS. Izvi zvinoita kuti zvive nyore kurapwa kutanga. Tsvagiridzo iri kuenderera mberi nekutsvaga mitsva yekurapa uye iri nani, senge masero masendimita.