I-dysautonomia eqhelekileyo

I-dysautonomia eyaziwayo (FD) sisifo esifa njengelifa esichaphazela imithambo-luvo emzimbeni wonke.

I-FD idluliselwa kwiintsapho (ezizuzwe njengelifa). Umntu kufuneka azuze ikopi yesakhi esineziphene kumzali ngamnye ukuphuhlisa imeko.

I-FD yenzeka rhoqo kubantu base-Yurophu yase-Mpuma yamaJuda (ama-Ashkenazi amaJuda). Kubangelwa lutshintsho (uguquko) luye kuhlobo lwemfuza. Inqabile kubemi ngokubanzi.

I-FD ichaphazela imithambo-luvo kwinkqubo ye-autonomic (engazibandakanyi) yenkqubo yeemvakalelo. Ezi mithambo-luvo zilawula imisebenzi yemihla ngemihla yomzimba efana noxinzelelo lwegazi, ukubetha kwentliziyo, ukubila, ukuphuma kwamathumbu kunye nesinyi, ukugaya ukutya, kunye nemithambo-luvo.

Iimpawu ze-FD zibakhona ekuzalweni kwaye zinokukhula zisiba mandundu ngokuhamba kwexesha. Iimpawu ziyahluka, kwaye zinokubandakanya:

• Ukuginya iingxaki kwiintsana, kukhokelela ekuphefumlweni inyumoniya okanye ukukhula kakubi
• Ukuphefumla okubambe ukuphefumla, kukhokelela ekuphelelweni lithemba
• Ukuqunjelwa okanye urhudo
• Ukungakwazi ukuziva iintlungu kunye notshintsho kubushushu (kunokukhokelela ekonzakaleni)
• Amehlo omileyo kunye nokungabikho kweenyembezi xa ulila
• Ulungelelwaniso olubi kunye nokuhamba okungazinzanga
• Ukuxhuzula
• Indawo egudileyo engaqhelekanga egudileyo, kunye nolwimi olunqongopheleyo kunye nokusilela kokungcamla kunye nokuncipha kokungcamla

Emva kweminyaka emi-3 ubudala, uninzi lwabantwana lukhula kwiingxaki ezizimeleyo. Ezi ziqendu zokugabha ngoxinzelelo oluphezulu lwegazi, ukubaleka kwentliziyo, umkhuhlane kunye nokubila.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba ukukhangela:

• Ukungabikho okanye ukunciphisa i-tendon reflexes ezinzulu
• Ukungabikho kwempendulo emva kokufumana inaliti ye-histamine (ngesiqhelo ububomvu kunye nokudumba kuya kubakho)
• Ukungabikho kweenyembezi ngokulila
• Ithoni yezihlunu ephantsi, rhoqo kwiintsana
• Ukujikeleza okunzima komqolo (scoliosis)
• Abafundi abancinci emva kokufumana i-eye eye

Uvavanyo lwegazi luyafumaneka ukukhangela ukutshintsha kwemfuza okubangela i-FD.

I-FD ayinakunyangeka. Unyango lujolise ekulawuleni iimpawu kwaye lunokubandakanya:

• Amayeza okunceda ukuthintela ukuxhuzula
• Ukondla kwindawo ethe tye kwaye unike ifomula ebhaliweyo yokuthintela i-reflux yesisu (isisu sesisu kunye nokutya okubuyayo, okwabizwa ngokuba yi-GERD)
• Amanyathelo okuthintela uxinzelelo lwegazi oluphantsi xa umile, njengokunyuka kokutya okungamanzi, ityuwa, kunye necaffeine, kunye nokunxiba isitokhwe
• Amayeza okulawula ukugabha
• Amayeza okuthintela amehlo owomileyo
• Unyango lomzimba lwesifuba
• Amanyathelo okukhusela ekonzakaleni
• Ukubonelela ngesondlo esaneleyo kunye neencindi
• Ugqirha okanye ukudibana kwemqolo ukunyanga iingxaki zomqolo
• Ukunyanga i-aspiration pneumonia

Le mibutho inokubonelela ngenkxaso kunye nolwazi oluthe kratya:

• Umbutho weSizwe weengxaki zoRare- rarediseases.org
• Isalathiso seKhaya le-NLM yemfuza - ghr.nlm.nih.gov/condition/familial-dysautonomia

Inkqubela phambili yokufumanisa isifo kunye nonyango iyalonyusa izinga lokusinda. Phantse isiqingatha seentsana ezizalwe nge-FD ziya kuphila ukuya kwi-30 yobudala.

Biza umnikezeli wakho ukuba iimpawu ziyaguquka okanye ziya zisiba mbi. Umcebisi wezofuzo unokukunceda malunga nemeko kwaye akukhokele ukuba uxhase amaqela kwindawo yakho.

Uvavanyo lwe-DNA yemfuza luchaneke kakhulu kwi-FD. Ingasetyenziselwa ukuxilonga abantu abanemeko okanye abo baphethe i-gene. Ingasetyenziselwa ukufumanisa isifo ngaphambi kokubeleka.

Abantu abanemvelaphi yamaJuda aseMpuma Yurophu kunye neentsapho ezinembali ye-FD banokunqwenela ukufuna ingcebiso ngemfuzo ukuba bacinga ngokuba nabantwana.

Isifo seRiley-Day; FD; Imvakalelo yelifa kunye nokuzimela kwe-neuropathy-uhlobo III (HSAN III); Iingxaki ezizimeleyo-kwi-dysautonomia yosapho

• Chromosomes kunye neDNA

Katirji B.Ukuphazamiseka kwemithambo yoluvo. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ii-eds. I-Neurology kaBradley kwiKlinikhi yokuziqhelanisa. Umhla wesi-7. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 107.

I-Sarnat HB. Ukuzimela kwe-neuropathies. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla we-20. IPhiladelphia, PA: Elsevier; Ngo-2016: isahluko 615.

U-Wapner RJ, Dugoff L.Ukuxilongwa kwesifo sokuzalwa komntwana ngaphambi kokubeleka. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Isilivere RM, ii-eds. I-Creasy kunye neResnik's Maternal-Fetal Medicine: Imigaqo kunye nokuziqhelanisa. Ngomhla we-8. IPhiladelphia, PA: Elsevier; I-2019: isahluko 32.