Wake wezwa ngesifo se-Refsum? Ake sixoxe ngalesi simo esingavamile!

Wake wezwa ngento ebizwa ngokuthi 'iRefsum Disease'? Mhlawumbe leli gama lisha kancane kubantu abaningi. Ngoba liyisifo esingavamile kakhulu, okungukuthi, isifo sofuzo esingavamile ukubonwa. Kodwa kubaluleke kakhulu ukuqaphela izinto ezinjengalezi. Namuhla, sizokhuluma ngeRefsum Disease kalula, ngendlela ongayiqonda.

Iyini ngempela i-Refsum Disease?

Kalula nje, isifo se-Refsum siyisifo sofuzo esithinta izitho ezimbili ezahlukene. Esinye yi-Infantile Refsum Disease , kanti esinye yi -Adult Refsum Disease . Zombili ziyingxenye yeqembu elikhulu lezifo ezibizwa ngokuthi "i-Peroxisomal disorders." Okwenzekayo kulokhu ukuthi ngenxa yezinguquko ezithile (esizibiza ngokuthi "izinguquko") ezizakhini zomzimba wethu, ezinye izinhlobo zamafutha azikwazi ukuhlukaniswa kahle, okungukuthi, azikwazi ukugaywa. Uma unalesi simo, umzimba wakho ulahlekelwa ama-enzyme asiza ekuhlukaniseni uhlobo lwamafutha olubizwa ngokuthi "i-Phytanic acid." Okwenzekayo ukuthi "i-Phytanic acid" iqala ukuqongelela emzimbeni. Cabanga ngakho njengodoti omncane endlini yethu futhi kubangela izinkinga.

Uyini umehluko phakathi kwe-Refsum yabantu abadala kanye ne-Refsum yezinsana?

Kuzo zombili izinhlobo zesifo se-Refsum, ungabona ukulahlekelwa umbono kanye nokuqongelela kwe-`(Phytanic acid)` emzimbeni engikushilo ekuqaleni. Kodwa lezi zimo ezimbili zenzeka ngenxa yezinguquko (`(mutations)`) ezizakhini ezimbili ezahlukene ngaphambi kokuba sizalwe.

• Isifo Sokuhlushwa Kwezinsana: Lesi ngesinye sezinhlobo zezimo ezibizwa ngokuthi i-Zellweger spectrum disorders. Sibangela izimpawu ezinsaneni nasezinganeni ezincane. Isibonelo, ithoni yemisipha egobile, ukungondleki kahle, ukuxhuzula , ukubambezeleka kokukhula , kanye nesifo sesibindi . I-Infantile Refsum yisimo esibi kakhulu kune-Refsum yabantu abadala. Isikhathi sokusinda kwezinsana ezinalesi simo singahluka, kodwa ekugcineni singaba yingozi.

• Isifo Sokuhlushwa Kwezinzwa Zabantu Abadala: Lokhu kuvame ukuvela ebuntwaneni noma kamuva. Kubangela kakhulu ukulahlekelwa umbono , ukulahlekelwa yiphunga , ukungazweli noma ubuthakathaka ezithweni zomzimba , kanye nokulahlekelwa ukuzwa . Ngokungafani ne-Refsum yobuntwana, lokhu akuthinti ubuchopho. Ngakho-ke, ukuxhuzula noma ukubambezeleka kokukhula akuvamile ukubonwa. Kodwa-ke, kunengozi yezinkinga ezinkulu zenhliziyo kamuva ekuphileni.

Sivame kangakanani isifo se-Refsum?

Isifo se-Refsum empeleni siyisimo esingavamile kakhulu . Isifo se-Refsum sezinsana senzeka cishe koyedwa kubantu abayikhulu lezinkulungwane. Isifo se-Refsum sabantu abadala singavamile ngisho nakakhulu, sivela cishe koyedwa kubantu abayisigidi. Ngakho ungacabanga ukuthi lokhu kungavamile kangakanani.

Ziyini izimpawu zesifo se-Refsum?

Izimpawu zesifo se-Refsum ziyahlukahluka kuye ngokuthi uqala nini ukuzwa izimpawu.

Ukubuyiselwa Kwezingane Ezincane

Uma ingane yakho inesifo sikaRefsum, ingase ibe buthakathaka kakhulu ekuzalweni, njengokungathi ayiphili. Ingase futhi ibe nobunzima bokuncelisa . Izimpawu zayo zincike ebunzimeni besifo. Ingase ibe nesifo sokuwa, noma ingase ibe nokukhubazeka kulezi zitho zomzimba:

• Izinso (`(Izinso)`)
• Isibindi (`(Isibindi)`)
• Amathambo (ikakhulukazi amathambo amade)

Izinsana ezinezifo ezinzima zalesi sifo ngezinye izikhathi zingafa zingakapheli unyaka wokuqala wokuphila.

Izingane ezindala zingase zibhekane nezinto ezifana nalezi:

• Ukukhubazeka kokukhula
• Ukukhula okubi
• Izinkinga zokubona nokuzwa

Ukubuyiselwa Kwemali Kwabantu Abadala

Uphawu lokuqala lwesifo se-Refsum sabantu abadala luvame ukulahleka kombono ebusuku . Lokhu kubangelwa yisimo esibizwa ngokuthi `(Retinitis pigmentosa)`. Ingane yakho ingase ibone lokhu kulahlekelwa umbono ebusuku phakathi neminyaka yayo yobusha, cishe ineminyaka eyishumi nantathu noma eyishumi nane. Noma ingase ingakhombisi zimpawu ize ibe isikhulile. Njengoba ikhula, lesi simo `(Retinitis pigmentosa)` singabangela ukulahlekelwa umbono ongaphandle futhi ekugcineni siholele ekubeni yimpumputhe ngokuphelele.

Ezinye izimpawu ze-Refsum zabantu abadala zifaka:

• Ukulahlekelwa umuzwa wokuhogela (`(Anosmia)`)
• Ukungazweli noma umuzwa wokushisa emilenzeni
• Ukulahlekelwa ukuzwa
• Izinkinga zebhalansi
• I-Ichthyosis (amabala aqinile, anamabala esikhumbeni)
• Umbono ofiphele, njengokungathi kwakheka ama-cataract emehlweni (`(Ama-Cataract)`)
• Isifo senhliziyo esibi kakhulu, isibonelo, ukushaya kwenhliziyo okungajwayelekile (i-arrhythmia) noma ukwehluleka kwenhliziyo (ukwehluleka kwenhliziyo)

Yiziphi izinkinga zesifo se-Refsum?

Ukuphelelwa amandla ezinganeni kuyisimo esibi kakhulu nesiqeda amandla . Izingane zinezinkinga ezinkulu zokudla, ukuxhuzula, ukubona nokuzwa. Isikhathi sokuphila kwazo sifushane ngenxa yezinkinga zokuphefumula.

Ku-Refsum yabantu abadala, ukubona kwakho kuya ngokuya kuba kubi ngokuhamba kwesikhathi. Ubuthakathaka, ukulahlekelwa umuzwa, nezinkinga zokulinganisela nazo ziyanda kancane kancane. Ngezinye izikhathi, ngesikhathi sokucindezeleka ngokomzimba, njengalapho unesifo esikhulu noma uhlinzwa , amazinga e-`(Phytanic acid)` engiwakhulume ngawo angaba phezulu kakhulu. Khona-ke ukushaya kwenhliziyo kungaba okungajwayelekile noma kungaba nobuthakathaka obukhulu. Uma kungelashwa, lokhu kuphazamiseka kwesigqi senhliziyo (`(Arrhythmias)`) kungaba yingozi ngisho nokuphila.

Yini ebangela isifo se-Refsum?

Isifo se-Refsum sibangelwa ushintsho (ukuguqulwa kwezakhi zofuzo) onalo ngesikhathi sokuzalwa. Ungaluthola lolu guquko kumama wakho, kuyihlo, noma kokubili.

Kunezakhi zofuzo ezingaphezu kweshumi nambili ezingabangela i-Refsum yobuntwana. Kulezi, ezivame kakhulu yi-`(PEX1)` (cishe ama-60%), `(PEX6)` (cishe ama-15%), `(PEX12)` (cishe ama-7.6%) kanye ne-`(PEX26)` (cishe ama-4.2%).

Isifo se-Adult Refsum sibangelwa futhi ukuguquka kwezakhi zofuzo okukhona lapho kuzalwa futhi kudluliselwe ezizukulwaneni ngezizukulwane. Cishe abantu abayisishiyagalolunye kwabayishumi abanesifo se-Refsum sabantu abadala banokuguquka kwezakhi zofuzo `(PHYH)`. Iningi labanye linokuguquka kwezakhi zofuzo `(PEX7)`.

Cabanga ngakho njengefektri encane emzimbeni wethu lapho umshini othile obalulekile uphuka khona. Izinkinga ezinjengalezi zenzeka lapho leyo mishini ebizwa ngokuthi izakhi zofuzo ingasebenzi kahle.

Isifo se-Refsum sitholakala kanjani?

Odokotela basebenzisa izivivinyo ezahlukene ukuxilonga isifo se-Refsum, kuye ngeminyaka yakho. Bangase futhi benze izivivinyo zofuzo ukuze babheke izinguquko zofuzo ezibangela isifo se-Refsum.

• Kwe-Refsum yosana: Ukuhlolwa okuvame kakhulu ukukala ama-fatty acids anochungechunge olude kakhulu (`(ama-fatty acids anochungechunge olude kakhulu)`), i-phytanic acid (`(i-phytanic acid)`), kanye ne-pristanic acid (`(i-pristanic acid)`).
• Kwabantu abadala i-Refsum: Udokotela wakho angase aqale athathe isampula yegazi bese ehlola amazinga akho e-`(Phytanic acid)`.

Isifo se-Refsum siphathwa kanjani?

Ukwelashwa Kwe-Infantile Refsum

Uma ingane yakho inesifo se-Refsum sezinsana, udokotela uzonquma ukwelashwa ngokusekelwe ezimpawini zengane. Lokhu kungafaka phakathi izinto ezifana nalezi:

• Ukondla ngamapayipi
• Ukususwa kwe-cataract (`(Ukususwa kwe-cataract)`)
• Izibuko
• Izinsiza zokuzwa (`(Izinsiza zokuzwa)`)
• Amavithamini
• Imithi yokulwa nokuquleka
• Izindlela zokwelapha ezahlukahlukene kanye nezinsizakalo zokungenelela kusenesikhathi zokulibaziseka kokukhula (`(izinsizakalo zokwelapha/zokungenelela kusenesikhathi)`)

Ukwelashwa Kwe-Refsum Yabantu Abadala

Uma welapha isifo se-Refsum sabantu abadala, kungadingeka unciphise ukudla okwandisa amazinga e-phytanic acid emzimbeni wakho. Isibonelo:

• Inyama yenkomo newundlu
• Imikhiqizo yobisi
• Izinhlanzi ezinamafutha, njenge-cod, i-tuna, noma i-haddock.

Abanye abantu bangadinga nokwelashwa okubizwa ngokuthi "i-Plasmapheresis" ukulawula ukunqwabelana kwe-"Phytanic acid". Ku-"Plasmapheresis", udokotela uthatha ingxenye yegazi lakho, ahlunge i-"Phytanic acid" eningi, bese ekubuyisela lelo gazi kuwe. Nakuba lokhu kuyindlela yokwelapha eyinkimbinkimbi, kuyazuzisa kakhulu kwabanye abantu.

Ingabe isifo se-Refsum sidinga ukwelashwa kwesifo senhliziyo?

Kubantu abadala abanesifo se-Refsum, uma uhlaselwa ukushaya kwenhliziyo okungajwayelekile ngokuzumayo, ungadinga ukwelashwa ukulawula izinga lokushaya kwenhliziyo yakho. Lokhu kungafaka:

• Izinhlobo zemithi:Imithi efana ne-`(Beta-blockers)`, `(Calcium channel blockers)`, noma `(Anticoagulants)` enciphisa ukujiya kwegazi inikezwa ukulawula izinga lokushaya kwenhliziyo noma ukunciphisa ingozi yokushaywa yisifo sohlangothi.
• I-Cardioversion: Ukuphathwa kokushaqeka kukagesi okulawulwayo ukuze kubuyiselwe iphethini evamile yokushaya kwenhliziyo.
• I-ICD (i-ICD) efakwa ngaphansi kwesikhumba sakho. Iqapha futhi ilawule ukushaya kwenhliziyo yakho.
• Ukususwa kwe-catheter: Lena inqubo engangenisi kakhulu ehilela ukulimaza ngamabomu izicubu zenhliziyo ezigulayo ukuze kuphazanyiswe ukushaya kwenhliziyo okungajwayelekile.

Yini umuntu onesifo se-Refsum angayilindela?

Izingane ezine-Refsum yobuntwana zivame ukuba nokulibaziseka okukhulu kokukhula futhi zidinga ukungenelela okukhulu kwezokwelapha. Ngokudabukisayo, naphezu kokunakekelwa okungcono kakhulu, ubukhali kanye nohlobo lwesimo kunciphisa isikhathi sokuphila salezi zingane.

Abantu abaningi abane-Refsum yabantu abadala baphatha ngempumelelo izimpawu zabo ngokunciphisa ukudla okune-`(i-Phytanic acid)` eningi. Ngokwelashwa, izimpawu ezifana nesikhumba esomile kanye nokuba ndikindiki kuvame ukuphela. Kodwa-ke, kungase kudingeke uphile nezinkinga zokubona noma zokuzwa zesikhathi eside. Abanye abantu bangase bangaphinde baphinde bathole umuzwa wabo wokuhogela olahlekile.

Unganciphisa kanjani ingozi yesifo se-Refsum?

Ngenxa yokuthi isifo se-Refsum siyisifo esibangelwa izakhi zofuzo, ayikho indlela yokusivimbela.

Uma unesifo se-Refsum, noma ucabanga ukuthi ungase ube ngumthwali walesi sifo, ungase uthande ukucabangela ukuhlolwa kwezakhi zofuzo. Ukuhlolwa kwezakhi zofuzo kungabona ukuguquka kwezakhi zofuzo okubangela isifo se-Refsum. Umeluleki wezakhi zofuzo angakusiza uqonde imiphumela yokuhlolwa futhi achaze amathuba okuba izingane zakho zizuze lesi simo sezakhi zofuzo.

Yini okufanele ngiyibuze udokotela wami?

Uma unesifo se-Refsum, noma usola ukuthi unaso, ungabuza udokotela wakho imibuzo efana nale:

• Yiziphi izimpawu zokuqala zesifo se-Refsum?
• Yiziphi izivivinyo ezisetshenziswa ukuxilonga isifo se-Refsum?
• Yiziphi izindlela zokwelapha isifo se-Refsum?
• Ingabe kufanele ngithole ukuhlolwa kofuzo kwesifo se-Refsum?
• Angakanani amathuba okuthi ingane yami izozuza isifo se-Refsum?

Kuvamile ukuzizwa wesaba lapho uthola ukuthi wena noma ingane yakho inesifo esingavamile sofuzo. Kodwa-ke, ukuthola ukuxilongwa kuyisinyathelo sokuqala sokuqonda ukuthi kwenzekani.

Ngamafuphi (Umyalezo Wokuya Ekhaya)

Isifo se-Refsum siyisimo esingavamile nesiyinkimbinkimbi. Kodwa-ke, ngokuxilongwa okufanele nokwelashwa okusheshayo,Ngokwelashwa, ikakhulukazi kwisifo se-Refsum sabantu abadala, kungenzeka ukulawula izimpawu nokuphila impilo enhle. Nakuba isimo se-Refsum yosana sinzima kakhulu, kubaluleke kakhulu ukunikeza ingane ukunakekelwa okuphezulu kanye nokusekelwa ekudingayo.

Uma uneminye imibuzo mayelana nalokhu, noma uma usola ukuthi othile emndenini wakho unalezi zimpawu, ungalokothi unqikaze ukufuna iseluleko sezokwelapha. Kungaba usizo olukhulu futhi ukujoyina amaqembu okusekela asiza abantu abanalezi zifo ezingavamile kanye nemindeni yabo. Nakuba okuhlangenwe nakho kwawo wonke umuntu kuhlukile, ukukhuluma nabanye kungakusiza uzizwe ungedwa.

Isifo se - Refsum, isifo se-Refsum, izifo zofuzo, i-phytic acid, izinkinga zokubona, ukukhubazeka kokuzwa, i-Refsum yosana, i-Refsum yomuntu omdala