Masithethe ngeFamilial Dysautonomia: Ingxaki yenkqubo yemithambo-luvo ezuzwe njengelifa!

Ngaba wakha weva ukuba ezinye izinto emzimbeni wethu zenzeka ngokuzenzekelayo, singazi nokuba sizazi? Cinga ngako, ukuphefumla, ukugaya ukutya, ukulawula ubushushu bomzimba wethu, ukutshixa amathe, ukukhala... Zonke ezi zinto zenzeka ngokuzenzekelayo emzimbeni wethu, oko kukuthi, ngaphandle kokuba sicinge ngazo. Kodwa, kwenzeka ntoni ukuba kukho ubuthathaka okanye ingxaki kwinkqubo yethu yemithambo-luvo , elawula ezi zinto ngokuzenzekelayo? Namhlanje siza kuthetha ngesifo esingaqhelekanga, kodwa esibi kakhulu, esizalwa naso. Esi sibizwa ngokuba yiFamilial Dysautonomia (FD) .

Yintoni iFamilial Dysautonomia?

Ngamafutshane, i-Familial dysautonomia (FD) yimeko yokuzalwa echaphazela inkqubo yakho yemithambo-luvo. Ichaphazela ikakhulu amalungu omzimba wakho alawula iinkqubo ezenzekelayo . Oko kukuthi:

• Ukuphefumla
• Ukugaya ukutya
• Iinyembezi eziyakhayo
• Ukulawula uxinzelelo lwegazi kunye nobushushu bomzimba
• Ukwakheka kwamathe

Ukongeza koku, ikwachaphazela nenkqubo yakho yemithambo-luvo ebuthathaka . Oko kuthetha ukuba:

• Incasa
• Uvelwano kwiintlungu kunye nobushushu

Le meko ibangelwa kukuguquka kwezakhi zofuzo okufunyenwe kubazali. Le meko, ebizwa ngokuba yiFamilial Dysautonomia, ikwabizwa ngokuba:

• Isifo sikaRiley-Day
• Uhlobo lwe-HSAN III lwe-hereditary sensory kunye ne-autonomic neuropathy (Uhlobo lwe-III lwe-hereditary sensory kunye ne-autonomic neuropathy - Uhlobo lwe-HSAN III)

Okubuhlungu kukuba, le meko ye-dysautonomia yentsapho inokubangela ukulibaziseka kokukhula kwabantwana kwaye inokunciphisa ubomi babo.

Ngubani onokuba nethuba elikhulu lokufumana le meko?

I-Familial Dysautonomia ifuna ukuba umntwana afumane i-gene enesiphene kubazali bobabini . Le yimeko engaqhelekanga kakhulu. Ixhaphake kakhulu kubantu abazalwa ngamaJuda angama-Ashkenazi . Kubikwa ukuba malunga nomnye wamaJuda angama-10,000 ase-Ashkenazi e-United States kunye nomnye wama-3,700 e-Israel uzalwa enale meko. Oku kuthetha ukuba ayisosifo esichaphazela wonke umntu.

Yintoni isizathu soku?

Oku kungenxa yokuguquka kwezakhi zofuzo . Bobabini abazali bakho kufuneka babe nokuguquka kwezakhi zofuzo ekuthiwa yi-ELP1 . Le gene ye-ELP1 yenza iproteni enceda inkqubo yakho yemithambo-luvo ikhule. Ngoko ke, ukuba kukho utshintsho, okanye ukusilela, kule gene, kuvela iingxaki ekusebenzeni kwamalungu enkqubo yemithambo-luvo. Ngamafutshane, ukuba ifenitshala enye ebalulekileyo ayikho ngelixa kusakhiwa indlu, yonke indlu iya kuwa.

Zithini iimpawu zeFamilial Dysautonomia (FD)?

Iimpawu zale meko ziqala ebuntwaneni . Iimpawu zokuqala ziquka:

• Ubunzima bokuncanca: Kunzima kumntwana omncinci ukuncanca kakuhle.
• Ubunzima bokuginya (dysphagia): Ubunzima bokuginya ukutya nokusela, uzive ngathi kuyakrwitshwa.
• Ukungakwazi ukugcina ubushushu bomzimba: Ubushushu bomzimba bunokunyuka okanye bunciphe ngequbuliso.
• Ukungabikho kweenyembezi xa ulila: Olu luphawu olukhethekileyo. Umntwana omncinci akakhali xa ekhala.
• Ukukhula kakubi: Ubunzima nobude bomntwana abunyuki ngokweminyaka yakhe.
• Ubuthathaka bemisipha (hypotonia): Umzimba uziva ubuthathaka kwaye ubuthathaka.

Njengoko umntwana ekhula, ngamanye amaxesha unokubamba umphefumlo wakhe, ngokungathi uyakrwitshwa. Kodwa oku kubamba umphefumlo kudla ngokuphela xa eneminyaka emi-6 ubudala.

Njengoko isifo siqhubeka, ezinye iimpawu zinokuvela:

• Ukuphazamiseka kwentliziyo (arrhythmia): Isantya sentliziyo siba singaqhelekanga.
• Ukungakhathali kakuhle: Usenokungakwazi ukungcamla ukutya ngendlela efanelekileyo.
• Ukugoba okungaqhelekanga komqolo (i-scoliosis): Umqolo ubonakala ngathi ugobile kwicala elinye.
• Iingxaki zokulinganisela kunye neengxaki zokuhamba: Ubunzima bokuhamba, umngcipheko wokuwa.
• Ukuchama Ebhedini: Ukumanzisa ibhedi ebusuku ngelixa ulele.
• I-Chronic acid reflux (GERD): Isitshiso sentliziyo esihlala sihleli kunye nokuziva isitshiso sentliziyo sinyuka siye emqaleni.
• Ukulibaziseka kokukhula: Izinto ezifana nokuthetha nokuhamba ziyalibaziseka.
• Ukuvuza amathe kakhulu.
• Iingxaki zamehlo: izinto ezifana namehlo awomileyo, i-strabismus.
• Ukungakwazi ukuziva iintlungu nokutshintsha kobushushu: Ubushushu, ingqele, amanxeba, kunye namanxeba awavakali kakuhle.
• Ukuphazamiseka kokubona kunye nokulahlekelwa ngumbono.
• Usulelo lwemiphunga: Usulelo oluqhelekileyo luvela ngenxa yokuqokelelwa kwe-mucus emiphungeni.
• Ukubuthathaka kwamathambo (i-osteoporosis) kunye nomngcipheko ophezulu wokuqhekeka kwamathambo.
• Ubuthathaka ekulawuleni ukuphefumla, ingakumbi xa ulele.
• Iimeko zokuxhuzula ezifana nesifo sokuwa.
• Ukuhlanza.

Abantu abaninzi abane-Familial dysautonomia baneengxaki zokulawula uxinzelelo lwabo lwegazi . Oku kunokubangela uxinzelelo lwegazi oluphantsi xa bemi (orthostatic hypotension), nto leyo enokubangela isiyezi kunye nokuquleka. Uxinzelelo lwegazi oluphezulu (hypertension) lunokubangela nesifo sezintso.

Malunga nama-40% abantu abanale meko bafumana amaxesha abizwa ngokuba yi- "autonomic crisis" xa iimpawu zisiba mandundu ngequbuliso. Ngala maxesha, oku kulandelayo kunokwenzeka:

• Ifiva.
• Ukubetha kwentliziyo.
• Igazi elonyukayo.
• Ubomvu besikhumba.
• Ukubila.
• Ukuhlanza.

Khawuthelekelele indlela ekunokuba nzima ngayo kumntwana omncinci ukuba neengxaki ezinjalo ngamaxesha onke. Kunzima nakubazali ukunyamezela oku. Kodwa kukho izisombululo kuzo zonke ezi zinto ngokweengcebiso zonyango.

Ifunyanwa njani iFamilial Dysautonomia (FD)?

Ugqirha wakho uza kuqala akubuze ngeempawu zakho aze emva koko enze uvavanyo lomzimba .

Eyona nto iphambili kukubona ukuba iinyembezi ziyaphuma na xa ulila. Kwiintsana ezingaphantsi kweenyanga ezi-6 ubudala, kwenziwa uvavanyo olubizwa ngokuba luvavanyo lweSchirmer :

• Okwenzayo kukubeka iphepha elincinci lesihluzo ngaphakathi kwejwabu elisezantsi lomntwana.
• Ukuba, emva kwemizuzu emihlanu, ubungakanani bomswakama egqabini bungaphantsi kweemililitha ezili-10, kurhaneleka ukuba umntwana usenokuba ne-familial dysautonomia.

Ukongeza, ugqirha uza kujonga nezi zinto:

• Ukuncipha kwe-tendon reflexes: Ukuba une-FD, izihlunu zakho aziyi kusabela xa ugqirha ezicofa kancinci.
• Impendulo kwinaliti ye-histamine: Xa umntu one-FD efumana le naliti, ulusu alubi bomvu kwaye ludumbe njengomntu oqhelekileyo.
• Impendulo kwi-methacholine: Malunga nemizuzu engama-20 emva kokusebenzisa eli yeza, i-pupil yeliso iya kuncipha ukuba kukho i-FD.
• Inkangeleko yolwimi oluthambileyo: Ukuba une-FD, ulwimi lwakho luya kubonakala luthambile kuba amaqhuqhuva okungcamla (fungiform papillae) akwindawo engasemva yolwimi lwakho akakho.

Ukuba ubona ezi mpawu, ugqirha wakho unokucebisa uvavanyo lwemfuza , olubandakanya ukuthatha isampuli yegazi kunye nokujonga utshintsho lwemfuza olubangela i-familial dysautonomia.

Ziziphi iindlela zonyango lwe-Familial Dysautonomia (FD)?

Eyona nto iphambili kunyango lwe-FD kukunciphisa iimpawu . Kukho iindlela ezahlukeneyo zonyango ezikhoyo zoku:

• Kwizifo zemiphunga: Ii-antibiotics okanye i-physiotherapy yesifuba.
• Kwi-orthostatic hypotension: Iisokisi zoxinzelelo okanye i-pacemaker esisigxina.
• Kwiingxaki zokuphefumla ngexesha lokulala: Izixhobo ezifana neCPAP okanye iBiPAP® (Bilevel Positive Airway Pressure).
• Ukukhusela i-cornea yamehlo: Amaconsi eliso.
• Xa uphelelwa ngamanzi emzimbeni ngenxa yokuhlanza: Nika i-saline efakwa kwimithambo yegazi (ii-IV fluids).
• Kwi-GERD, isifo sezintso, ukuveliswa kwamathe, isifo sokuwa, okanye ukuhlanza: iintlobo ezahlukeneyo zamayeza.
• Ukwenza imisebenzi yemihla ngemihla ibe lula: Unyango lomsebenzi.
• Ukuphucula ibhalansi: Unyango lomzimba.
• Kwiingxaki zomqolo: Utyando.
• Ukwandisa isondlo: Ukubonelela ngokutya ngetyhubhu (isondlo sangaphakathi).

Okwangoku, abaphandi bayaqhubeka nokwenza uvavanyo lwezonyango olutsha . Kuthenjwa ukuba olu nyango ekugqibeleni luya kukwazi ukunyanga kungekuphela nje iimpawu kodwa kunye nesifo ngokwaso.

Ngaba umngcipheko we-Familial dysautonomia (FD) ungancitshiswa?

Asinakuyinciphisa ngokwenene ingozi yokuba ne-FD, kuba ibangelwa lufuzo. Nangona kunjalo, kubalulekile ukuqaphela iimpawu kwaye ufumane unyango ngokukhawuleza .

Ukuba ungowomnombo wama-Ashkenazi wamaJuda kwaye uceba ukuba nomntwana, kulungile ukuba ufune ingcebiso ngemfuza . Ugqirha wakho angacebisa novavanyo lwemfuza ukuze abone ukuba unayo na i-ELP1 gene ngaphambi okanye ngexesha lokukhulelwa.

Iyintoni imbono yomntu one-Familial Dysautonomia (FD)?

Akukho nyango lwe-familial dysautonomia. Abantu abanale meko banokuphila ubomi obufutshane kunabo bonke abantu. Malunga nesiqingatha saba bantu baphila iminyaka engama-30. Abanye banokuphila iminyaka engama-70.

Ukuva oku kunokukwenza uzive usoyika kwaye ulusizi kancinci. Kodwa khumbula, ngonyango olufanelekileyo kunye nokhathalelo oluhle, ungabanceda aba bantu baphile ubomi obuhle nobanelisayo kangangoko kunokwenzeka.

Iimpawu zinokuba mandundu ngokuhamba kwexesha. Umzekelo, malunga nama-49% abantu abane-FD baya kufuna uncedo lokuhamba beneminyaka engama-50 ubudala. Basenokuba nosulelo oluqhelekileyo lwemiphunga, olufana ne -pneumonia .

Umntu one-Familial Dysautonomia (FD) uzinyamekela njani?

Unokunceda ekunciphiseni iingxaki ngokulandela la manyathelo:

• Kuphephe imozulu eshushu okanye efumileyo.
• Nciphisa iimeko ezibangela uxinezeleko.
• Kuphephe uhambo olude.
• Zama ukungalindi de isinyi sakho sigcwale.

Kwakhona, kufuneka ugqirha wakho azihlole rhoqo ezi zinto :

• Ifuthe legazi.
• Amehlo.
• Umsebenzi wezintso.
• Umsebenzi wokuphefumla.
• Umqolo.

Umyalezo Wokuya Ekhaya

I-Familial dysautonomia (FD) yimeko engaqhelekanga, yemfuza echaphazela inkqubo yakho yemithambo-luvo. Ichaphazela ngokukodwa imisebenzi engazikhethelanga efana nokuphefumla, ukugaya ukutya, ukuveliswa kweenyembezi, uxinzelelo lwegazi kunye nolawulo lobushushu bomzimba, kunye nokuveliswa kwamathe. Ingachaphazela nemisebenzi yeemvakalelo efana nokungcamla, intlungu, kunye nobushushu.

Nangona kungekho nyango lupheleleyo loku, unyango olufana namayeza, iindlela ezahlukeneyo zonyango, kunye notyando lunokulawula iimpawu kwaye lwenze ubomi bube lula.Nangona abantu abane-dysautonomia yentsapho banokuba nexesha elifutshane lokuphila, ngonyango olufanelekileyo nokhathalelo, banokuphila ubomi obuhle kangangoko kunokwenzeka. Eyona nto ibalulekileyo kukufuna iingcebiso zonyango kwangethuba ukuba uneempawu kwaye uhlale phantsi kweliso lonyango rhoqo.

I- Dysautonomia yosapho, inkqubo yemithambo-luvo, izifo zemfuza, i-Riley-Day syndrome, impilo yomntwana, iimpawu, unyango