Ake sixoxe nge-Familial Dysautonomia: Isifo sezinzwa esizuzwe njengefa!

Wake wezwa ukuthi ezinye izinto emzimbeni wethu zenzeka ngokuzenzakalelayo, ngaphandle kokuthi siqaphele? Cabanga ngakho, ukuphefumula, ukugaya ukudla, ukulawula izinga lokushisa lomzimba wethu, ukuqunjelwa amathe, ukukhala... Zonke lezi zinto zenzeka ngokuzenzakalelayo emzimbeni wethu, okungukuthi, ngaphandle kokuthi sicabange ngazo. Kodwa, kwenzekani uma kukhona ubuthakathaka noma inkinga ohlelweni lwethu lwezinzwa , olulawula lezi zinto ezizenzakalelayo? Namuhla sizokhuluma ngesifo esingavamile, kodwa esibi kakhulu, sokuzalwa naso. Lokhu kubizwa ngokuthi i-Familial Dysautonomia (FD) .

Kuyini i-Familial Dysautonomia?

Kalula nje, i-familial dysautonomia (FD) yisimo sokuzalwa esithinta uhlelo lwakho lwezinzwa. Sithinta kakhulu izingxenye zomzimba wakho ezilawula izinqubo ezizenzakalelayo . Okungukuthi:

• Ukuphefumula
• Ukugaya ukudla
• Izinyembezi zakha
• Ukulawula umfutho wegazi kanye nokushisa komzimba
• Ukwakheka kwamathe

Ngaphezu kwalokhu, kuthinta nesimiso sakho sezinzwa esibucayi . Lokho kusho ukuthi:

• Ukunambitha
• Ukuzwela ubuhlungu kanye nokushisa

Lesi simo sibangelwa ukuguquka kwezakhi zofuzo okuzuzwe kubazali. Lesi simo, esibizwa ngokuthi i-Familial Dysautonomia, saziwa nangokuthi:

• Isifo sikaRiley-Day
• I-HSAN uhlobo lwesithathu lwe-hereditary sensory kanye ne-autonomic neuropathy (Uhlobo lwesithathu lwe-hereditary sensory kanye ne-autonomic neuropathy - uhlobo lwe-HSAN III)

Ngokudabukisayo, lesi simo se-dysautonomia yomndeni singabangela ukubambezeleka kokukhula kwezingane futhi singafinyeza isikhathi sokuphila kwazo.

Ubani onamathuba amaningi okuthola lesi simo?

I-Familial Dysautonomia idinga ukuthi ingane izuze ifa lofuzo olunephutha kubo bobabili abazali . Lesi yisimo esingavamile kakhulu. Sivame kakhulu kubantu bozalo lwama-Ashkenazi Jewish . Kubikwa ukuthi cishe oyedwa kumaJuda angama-Ashkenazi ayi-10,000 e-United States kanye noyedwa kumaJuda angama-3,700 kwa-Israyeli uzalwa nalesi simo. Lokhu kusho ukuthi akusona isifo esithinta wonke umuntu.

Iyini imbangela yalokhu?

Lokhu kungenxa yokuguquka kwezakhi zofuzo . Bobabili abazali bakho kumele babe nokuguquka kwezakhi zofuzo okuthiwa i-ELP1 . Le gene ye-ELP1 yenza iphrotheni esiza isimiso sakho sezinzwa ukuba sikhule. Ngakho-ke, uma kukhona ukuguquka, noma ukuntuleka, kulesi sakhi sofuzo, kuvela izinkinga ekusebenzeni kwezingxenye zesimiso sezinzwa. Kalula nje, uma ifenisha eyodwa ebalulekile ingekho ngesikhathi kwakhiwa indlu, yonke indlu izodilika.

Ziyini izimpawu ze-Familial Dysautonomia (FD)?

Izimpawu zalesi simo ziqala ebuntwaneni . Izimpawu zokuqala zifaka:

• Ubunzima bokuncelisa: Kunzima ngengane encane ukuncelisa kahle.
• Ubunzima bokugwinya (dysphagia): Ubunzima bokugwinya ukudla nokuphuza, uzizwe sengathi kuyaklinywa.
• Ukungakwazi ukugcina izinga lokushisa lomzimba: Izinga lokushisa lomzimba lingakhuphuka noma lehle ngokuzumayo.
• Ukuntuleka kwezinyembezi lapho ukhala: Lokhu kuyimpawu ekhethekile kakhulu. Ingane encane ayikhali uma ikhala.
• Ukukhula okubi: Isisindo nobude bomntwana akukhuphuki ngokulingana nobudala bakhe.
• Ubuthakathaka bemisipha (hypotonia): Umzimba uzizwa ubuthakathaka futhi ubuthakathaka.

Njengoba ingane ikhula, ngezinye izikhathi ingase ibambe umoya wayo, njengokungathi iyaklinywa. Kodwa lokhu kubamba umoya kuvame ukuphela lapho ineminyaka engu-6.

Njengoba lesi sifo siqhubeka, kungase kuvele ezinye izimpawu:

• Ukuphazamiseka kwenhliziyo (i-arrhythmia): Isilinganiso senhliziyo siba esingajwayelekile.
• Ukungajwayelekile kokunambitha: Ungase ungakwazi ukunambitha ukudla kahle.
• Ukugoba komgogodla okungajwayelekile (i-scoliosis): Umgogodla ubonakala ugobile ohlangothini olulodwa.
• Izinkinga zokulinganisela kanye nokuphazamiseka kokuhamba: Ubunzima bokuhamba, ingozi yokuwa.
• Ukuchama Embhedeni: Ukumanzisa umbhede ebusuku ngenkathi ulele.
• I-reflux ye-acid engapheli (GERD): Ukushisa kwenhliziyo okuvamile kanye nomuzwa wokushisa kwenhliziyo okwenyuka uye emphinjeni.
• Ukulibaziseka kokukhula: Izinto ezifana nokukhuluma nokuhamba ziyalibaziseka.
• Ukuqunjelwa kwamathe ngokweqile.
• Izinkinga zamehlo: izinto ezifana namehlo omile, i-strabismus.
• Ukungakwazi ukuzwa ubuhlungu nokushintsha kwezinga lokushisa: Ukushisa, ukubanda, amanxeba, kanye namanxeba akuzizwa kahle.
• Ukukhubazeka kokubona kanye nokulahlekelwa umbono.
• Ukutheleleka kwamaphaphu: Ukutheleleka okuvamile kwenzeka ngenxa yokuqongelela kwamafinyila emaphashini.
• Ubuthakathaka bamathambo (i-osteoporosis) kanye nengozi eyengeziwe yokuqhekeka kwamathambo.
• Ubuthakathaka ekulawuleni ukuphefumula, ikakhulukazi ngesikhathi sokulala.
• Izimo zokuquleka ezifana nesifo sokuwa.
• Ukuhlanza.

Abantu abaningi abane-dysautonomia yomndeni banezinkinga zokulawula umfutho wegazi wabo . Lokhu kungabangela umfutho wegazi ophansi lapho bemi (i-orthostatic hypotension), okungabangela isiyezi kanye nokuquleka. Umfutho wegazi ophakeme (umfutho wegazi ophakeme) nakho kungaholela ezifweni zezinso.

Cishe abantu abangu-40% abanalesi simo babhekana nezikhathi ezibizwa ngokuthi "izinkinga ezizimele" lapho izimpawu ziba zimbi ngokuzumayo. Phakathi nalezi zikhathi, okulandelayo kungase kwenzeke:

• Imfiva.
• Ukushaya kwenhliziyo.
• Umfutho wegazi ophezulu.
• Ukubomvu kwesikhumba.
• Ukujuluka.
• Ukuhlanza.

Cabanga ukuthi kunzima kangakanani ngengane encane ukuba nezinkinga ezinjalo ngaso sonke isikhathi. Kunzima nangabazali ukubekezelela lokhu. Kodwa kunezixazululo zakho konke lokhu ngokweseluleko sezokwelapha.

I-Familial Dysautonomia (FD) ihlolwa kanjani?

Udokotela wakho uzoqala ngokukubuza ngezimpawu zakho bese ekwenza ukuhlolwa ngokomzimba .

Into eyinhloko ukubona ukuthi izinyembezi ziyaphuma yini uma ukhala. Kubantwana abangaphansi kwezinyanga eziyisithupha ubudala, kwenziwa ukuhlolwa okubizwa ngokuthi ukuhlolwa kwe-Schirmer :

• Okwenzayo ukufaka iphepha elincane lokuhlunga ngaphakathi kwejwabu leso lomntwana.
• Uma, ngemva kwemizuzu emihlanu, inani lomswakama eqabungeni lingaphansi kwamamililitha ayi-10, kusolwa ukuthi umntwana angase abe ne-dysautonomia yomndeni.

Ngaphezu kwalokho, udokotela uzobheka nalezi zinto:

• Ukuncipha kwemisipha yobuchopho: Uma une-FD, imisipha yakho ngeke isabele uma udokotela eyithinta kancane.
• Ukusabela komjovo we-histamine: Uma umuntu one-FD ethola lo mjovo, isikhumba asibi bomvu futhi sivuvuke njengomuntu ojwayelekile.
• Ukusabela ku-methacholine: Cishe imizuzu engama-20 ngemva kokusebenzisa lo muthi, inhlamvu yeso izoncipha uma kukhona i-FD.
• Ukubukeka kolimi olubushelelezi: Uma une-FD, ulimi lwakho luzobonakala lubushelelezi ngoba ama-nambitheka (fungiform papillae) atholakala ngemuva kwesikhungo solimi lwakho awatholakali.

Uma ubona lezi zimpawu, udokotela wakho angase asikisele ukuhlolwa kwezakhi zofuzo , okuhlanganisa ukuthatha isampula yegazi nokuhlola ukuguquka kwezakhi zofuzo okubangela i-familial dysautonomia.

Yiziphi izindlela zokwelapha i-Familial Dysautonomia (FD)?

Umgomo oyinhloko wokwelashwa kwe-FD ukunciphisa izimpawu . Kunezindlela ezahlukene zokwelapha ezitholakalayo zalokhu:

• Ngezifo zamaphaphu: Ama-antibiotic noma i-physiotherapy yesifuba.
• Ukuze uthole i-orthostatic hypotension: Amasokisi okucindezela noma i-pacemaker ehlala njalo.
• Ngezinkinga zokuphefumula ngesikhathi sokulala: Amadivayisi anjenge-CPAP noma i-BiPAP® (Bilevel Positive Airway Pressure).
• Ukuvikela i-cornea yamehlo: Amaconsi eso.
• Uma uphelelwa amanzi emzimbeni ngenxa yokuhlanza: Nikeza i-saline (i-IV fluids) ngemithambo yegazi.
• Nge-GERD, isifo sezinso, ukukhiqizwa kwamathe, isifo sokuwa, noma ukuhlanza: izinhlobo ezahlukene zemithi.
• Ukwenza imisebenzi yansuku zonke ibe lula: Ukwelashwa ngokomsebenzi.
• Ukuthuthukisa ibhalansi: Ukwelashwa ngokomzimba.
• Ngezinkinga zomhlane: Ukuhlinzwa.
• Ukwandisa ukudla okunomsoco: Ukuhlinzeka ngokudla ngamapayipi (ukudla okunomsoco kwangaphakathi).

Okwamanje, abacwaningi bayaqhubeka nokwenza izivivinyo zezokwelapha zemithi emisha . Kuthenjwa ukuthi le mithi ekugcineni izokwazi ukwelapha hhayi nje izimpawu kodwa futhi nesifo uqobo.

Ingabe ingozi ye-Familial dysautonomia (FD) ingancishiswa?

Asikwazi ngempela ukunciphisa ingozi yokuthola i-FD, njengoba kuyizakhi zofuzo. Kodwa-ke, kubalulekile ukuqaphela izimpawu nokufuna usizo lwezokwelapha nokwelashwa ngokushesha okukhulu .

Uma ungowozalo lwama-Ashkenazi amaJuda futhi uhlela ukuba nomntwana, kuwumqondo omuhle ukufuna ukwelulekwa ngofuzo . Udokotela wakho angase futhi akuncomele ukuhlolwa kofuzo ukuze abone ukuthi une-gene ye-ELP1 ngaphambi noma ngesikhathi sokukhulelwa.

Uyini umbono womuntu one-Familial Dysautonomia (FD)?

Akukho ukwelashwa kwe-familial dysautonomia. Abantu abanalesi simo baphila isikhathi esifushane kunesomphakathi jikelele. Cishe ingxenye yalaba bantu iphila iminyaka engama-30. Abanye bangase baphile iminyaka engama-70.

Ukuzwa lokhu kungakwenza uzizwe wesaba futhi udangele kancane. Kodwa khumbula, ngokwelashwa okufanele nokunakekelwa okuhle, ungabasiza laba bantu baphile impilo enhle neyanelisayo ngangokunokwenzeka.

Izimpawu zingaba zimbi kakhulu ngokuhamba kwesikhathi. Isibonelo, cishe abantu abangu-49% abane-FD bazodinga usizo lokuhamba beneminyaka engu-50. Bangase babe nezifo zamaphaphu ezivame ukwenzeka, njenge -pneumonia .

Umuntu one-Familial Dysautonomia (FD) uzinakekela kanjani?

Ungasiza ekunciphiseni izinkinga ngokulandela lezi zinyathelo:

• Gwema isimo sezulu esishisayo noma esinomswakama.
• Nciphisa izimo ezicindezelayo.
• Gwema uhambo olude.
• Zama ukungalindi kuze kube yilapho isinyi sakho sigcwele.

Futhi, kufanele udokotela wakho ahlole lezi zinto njalo :

• Ukushaya kwegazi.
• Amehlo.
• Umsebenzi wezinso.
• Umsebenzi wokuphefumula.
• Umgogodla.

Umlayezo Wokuya Nawe Ekhaya

I-Family dysautonomia (FD) yisimo esingavamile, esithinta izakhi zofuzo esithinta uhlelo lwakho lwezinzwa. Sithinta ngqo imisebenzi engazikhetheli njengokuphefumula, ukugaya ukudla, ukukhiqizwa kwezinyembezi, umfutho wegazi kanye nokulawula izinga lokushisa lomzimba, kanye nokukhiqizwa kwamathe. Kungathinta nemisebenzi yezinzwa efana nokunambitha, ubuhlungu, kanye nezinga lokushisa.

Nakuba kungekho ikhambi eliphelele lalokhu, ukwelashwa okufana nemithi, izindlela zokwelapha ezahlukahlukene, kanye nokuhlinzwa kungalawula izimpawu futhi kwenze impilo ibe lula.Nakuba abantu abane-dysautonomia yomndeni bangase babe nesikhathi sokuphila esifushane, ngokwelashwa nokunakekelwa okufanele, bangaphila impilo enhle ngangokunokwenzeka. Into ebaluleke kakhulu ukufuna iseluleko sezokwelapha kusenesikhathi uma unezimpawu futhi uhlale ungaphansi kokubhekwa njalo kwezokwelapha.

I- Familial dysautonomia, isimiso sezinzwa, izifo zofuzo, i-Riley-Day syndrome, impilo yengane, izimpawu, ukwelashwa