Ngaba kukho umntu onesifo seDanon kusapho lwakho? Makhe sithethe ngaso!

Ngaba wakha weva ngeDanon Disease? Eli gama lisenokuba litsha kuwe. Lisifo esingaqhelekanga, esifuzekileyo esingabachaphazeli abantu abaninzi. Kodwa kufanelekile ukuqaphela kuba sinokuchaphazela intliziyo, izihlunu, amehlo, kwanobuchopho. Makhe sithethe ngalo ngokweenkcukacha namhlanje.

Yintoni iDanon Disease?

Ngamafutshane, iDanon Disease sisifo esingaqhelekanga esinokudluliselwa kwiijini zethu ukusuka kwesinye isizukulwana ukuya kwesinye. Singonakalisa iindawo ezahlukeneyo zomzimba wethu, ingakumbi intliziyo, izihlunu, i-retina, kunye nengqondo . Nangona kunjalo, ayinguye wonke umntu oza kuba neempawu ezifanayo, ziyahluka kumntu nomntu.

Isifo iDanon sikwiqela elikhulu lezifo ezibizwa ngokuba yi-'Lysosomal Storage Disorders' (LSD). Kukho iintlobo ezingaphezu kwama-50 zezifo phantsi kweli qela. Khawuthelekelele, ngaphakathi kweeseli zethu kukho iindawo ezifana neefektri ezincinci ezibizwa ngokuba yi-'lysosomes'. Umsebenzi ophambili wezi zinto kukudiliza nokucoca izinto ezingafunekiyo kunye nenkunkuma eveliswa ngaphakathi kweeseli. Kufana nokukhupha inkunkuma endlwini yethu.

Ngoko ke, iiseli zomntu onesifo 'seLysosomal Storage Disorder' azikwazi ukwenza lo msebenzi ngokufanelekileyo. Kwenzeka ntoni ke ngoko? Ezo zinto zingafunekiyo, iityhefu, ziqala ukuqokelelana ngaphakathi kweeseli. Ekuhambeni kwexesha, ezi tyhefu ziqokelelene zonakalisa iiseli, kwaye ngazo, amalungu omzimba. Oku kwenzeka kwisifo saseDanon.

Esi sifo sizuzwe njengelifa . Oku kuthetha ukuba sidla ngokudluliselwa kubazali ukuya ebantwaneni. Ngokukodwa, abafana banamathuba amaninzi okufumana esi sifo kwaye baneempawu eziqatha kakhulu kunamantombazana.

Zithini iimpawu zesifo saseDanon?

Nangona iimpawu zeDanon Disease zahlukile kumntu nomntu, kukho iimpawu eziphambili ezininzi ezinokubonakala:

• I-Cardiomyopathy: Olu luphawu lokuqala oluvelayo. Lunokuquka iintlungu zesifuba okanye ukuqina, ukudinwa, ukubhabha okanye ukubetheka esifubeni. Ngamanye amaxesha, ukuphefumla okufutshane kunye nokudumba kwemilenze nako kunokwenzeka.
• Ubuthathaka bemisipha (Myopathy): Khawuthelekelele, unengxaki yokuhlala esitulweni, ukuhamba, okanye uziva ubuthathaka emqolo, entanyeni, emagxeni, ezingalweni eziphezulu, okanye emilenzeni ephezulu. Ukuba ungumntwana omncinci, usenokuphelelwa ngumdla wokubaleka nokudlala, okanye unokuba nobunzima bokunyuka izinyuko. Ezi ziimpawu zobuthathaka bemisipha.
• Iingxaki zamehlo (i-Retinopathy): Oku kunokubangela ukubona okufipheleyo, ukudada kwamehlo, okanye ukukhanya okukhanyayo. Oku kunokwenza kube nzima ukufunda okanye ukubukela iTV.
• Ukukhubazeka kwengqondo: Ezi zixhaphake kakhulu kubafana. Iingxaki zokuziphatha, ezifana nokutshintsha kwendlela yokuziphatha xa uphakathi kwabanye abantu, kunye nokulibaziseka kokuthetha okanye ulwimi, zixhaphakile. Nangona kunqabile kakhulu, iingxaki zengqondo nazo zinokubakho. Imizekelo ibandakanya ubunzima bokugxila emsebenzini wesikolo kunye nesantya esicothayo sokufunda izinto ezintsha.

Indlela isini esichaphazela ngayo

Kumakhwenkwe, iimpawu zihlala ziqala ukubonakala ebuntwaneni, oko kukuthi, ngexesha lobuntwana okanye lokufikisa . Kwaye ezi mpawu zihlala zikhula ngokukhawuleza kwaye zibe nzima.

Kodwa xa ujonga amantombazana, ngamanye amaxesha kusenokungabikho zimpawu konke konke. Okanye, iimpawu zinokubonakala xa umntu efikisa okanye xa eselula. Iimpawu kumantombazana zihlala zikhula kancinci, kwaye zihlala zingabi nzima kangako. Nangona kunjalo, kubalulekile ukukhumbula ukuba kwezinye iimeko zinokuba nzima.

Iintlobo zeCardiomyopathy

Kukho iintlobo ezimbini eziphambili ze-cardiomyopathy ezibonwa kwiDanon Disease:

• I-Hypertrophic Cardiomyopathy: Olu lolona hlobo luxhaphakileyo. Ngamafutshane, kukuqina okungaqhelekanga kwemisipha yentliziyo.
• I-Dilated Cardiomyopathy: Oku kuxhaphake kakhulu kubasetyhini. Kulapho amagumbi entliziyo akhula khona kwaye intliziyo iba buthathaka.

Zithini izizathu zesifo saseDanon?

Eyona nto ibangela iDanon Disease kukutshintsha, okanye utshintsho, kwijini ethile ebizwa ngokuba yi-'LAMP2'. Njengoko usazi, yonke into emzimbeni wethu ilawulwa ziijini. Njengesoftware ekwikhompyutha, ezi jini zikwafundisa ukusebenza kwemizimba yethu.

Ngoko ke, abaphandi bakholelwa ukuba xa kukho utshintsho kule gene ye-'LAMP2', kukho ingxaki ethile eludongeni okanye kwi-membrane yenxalenye yeseli ebizwa ngokuba yi-lysosome endikhankanyileyo ngaphambili. Nangona kunjalo, akukabikho ukuqonda okucacileyo ngokupheleleyo kwendlela eyenzeka ngayo le sifo. Uphando lusaqhubeka ngaloo nto.

Isifo saseDanon sifunyanwa njani?

Ukuba wena okanye ugqirha wakho nibona iimpawu zeDanon Disease, basenokukukrokrela oko. Ugqirha wakho uya kukubuza ngeempawu zakho. Ukongeza, baya kwenza uvavanyo oluninzi ukuqinisekisa iDanon Disease kwaye bakhuphe ezinye iimeko.

Ngokuyintloko, uvavanyo lwe-DNA (uvavanyo lwemfuza) lunceda ekuxilongeni esi sifo. Oku kunokumisela ngokuchanekileyo ukuba kukho utshintsho kwi-gene ye-`LAMP2`.

Ngokuxhomekeke kwiimpawu zakho, ugqirha wakho unokucebisa olunye uvavanyo. Umzekelo:

• Uvavanyo lwegazi (Umsebenzi webhulorho (wegazi).
• Uvavanyo lwamehlo.
• I-ultrasound.
• Uvavanyo lwe-CT scan (i-computed tomography scan).
• Uvavanyo lwe-MRI (magnetic resonance imaging).
• I-biopsy yemisipha yamathambo ( kuthathwa iqhekeza elincinci lemisipha lize lihlolwe).

Kukwakho novavanyo lwentliziyo olukhethekileyo ukuze kubonwe ukuba intliziyo isebenza kakuhle kangakanani na:

• i-biopsy yentliziyo - i-biopsy yentliziyo (ukuthatha iqhekeza elincinci lentliziyo ukuze lihlolwe).
• I-MRI yentliziyo.
• Uvavanyo lwe-ECG (Electrocardiogram - EKG) (ukurekhoda umsebenzi wombane wentliziyo).

Ziziphi ezinye iimeko ezifana neDanon Disease?

Kukho ezinye izifo ezinokuthi iimpawu zazo zifane kancinci neDanon Disease. Yiyo loo nto kubalulekile ukufumana uxilongo oluchanekileyo. Nazi izifo ezimbalwa ezineempawu ezifanayo:

• Isifo sokugcina i-glycogen esizalwa naso (GSD) sentliziyo.
• I-autophagic vacuolar myopathy yabantwana abancinci.
• Ezinye izifo zentliziyo, umzekelo i-sarcomeric hypertrophic cardiomyopathy okanye i-dilated cardiomyopathy.
• Isifo sikaPompe.
• Isifo sikaWolff-Parkinson-White (WPW) – Oku ngamanye amaxesha kunokubonwa kunye nesifo saseDanon.
• I-myopathy enxulumene ne-X ene-autophagy egqithisileyo.

Oku kusenokuvakala kuyinkimbinkimbi kancinci, kodwa oogqirha bayayiqwalasela yonke le nto baze bafikelele kwisigqibo esichanekileyo.

Ziziphi iindlela zonyango zeDanon Disease?

Unyango lweDanon Disease luxhomekeke kwiimpawu zakho kunye nobunzima bazo. Iqela lakho lezonyango liza kusebenzisana nawe ukwenza isicwangciso sonyango esikulungeleyo. Oku kungabandakanya:

• Izixhobo zokuncedisa: Umzekelo, iiglasi zamehlo okanye ezinye izinto zokunceda ukubona, izixhobo zokuncedisa ukuva, isixhobo sokuhamba, okanye isitulo esinamavili.
• Unyango lwengqondo - unyango lokuthetha okanye unyango lokuthetha.
• Ukuba kukho iingxaki zokufunda, inkxaso yemfundo iyafumaneka.
• Unyango lomzimba lokuqinisa izihlunu.

Ngeengxaki zentliziyo, ingcali yakho ingacebisa izinto ezifana nezi:

• Isixhobo sokunciphisa ukubetha kwentliziyo esifakelweyo (i-ICD) sisetyenziselwa ukunyanga ukungalungelelani kwesantya sentliziyo (i-arrhythmia).Ukuba oku kubangela ukuba ukubetha kwentliziyo ngequbuliso kube yinto engahambelaniyo, kunokulungiswa.
• Isixhobo sokubona unyawo lwentliziyo iHolter esiza kurekhoda umsebenzi wentliziyo yakho imini yonke.
• Amayeza okulawula iingxaki zentliziyo, ingakumbi i-cardiomyopathy.
• Unyango olufana nonyango lokukhupha isisu ukuze kunyangwe izingqisho zentliziyo ezingaqhelekanga.

Ukuba isifo sentliziyo siba mandundu ngokukhawuleza, kunokufuneka ukuba utyando lwentliziyo lufakwe kwenye indawo . Ukuxilongwa kwangethuba kunye nonyango kubalulekile ukuthintela iingxaki ezisongela ubomi ezifana nokufa ngesiquphe kwentliziyo kunye nokungaphumeleli kwentliziyo kwangethuba .

Ngubani onokuba kwiqela lam lonyango?

Xa kunyangwa iDanon Disease, ugqirha omnye akwanelanga. Kufuna iqela leengcali. Ezi ngcali zisebenza noMboneleli wakho woNyango oluPhambili (PCP) ukukunceda. Iqela lakho lingabandakanya:

• Ingcali yentliziyo: Ingcali kwintliziyo nakwimithambo yegazi.
• Iingcali zokhathalelo lwamehlo / Ingcali yamehlo: Kwiingxaki ezinxulumene namehlo.
• Ingcali yemfuza: Umntu ogxile kwimfuza.
• Ingcali yezifo zengqondo: Ugqirha ogxile kwingqondo, umqolo, kunye nemithambo-luvo.
• Ingcali ye-neuromuscular: Ingcali kwimisipha kunye nemithambo-luvo.

Ngokuxhomekeke kwimeko yakho yempilo kunye nemiphumo emibi oyifumanayo, eli qela lezonyango liza kujonga amayeza akho kunye nonyango lwakho kwaye lenze naluphi na utshintsho olufunekayo.

Ngaba isifo saseDanon sinokunyangeka?

Ngelishwa, akukho nyango lweDanon Disease. Nangona kunjalo, ugqirha wakho unokucebisa unyango olunokukunceda ukulawula iimpawu zakho nokugcina impilo yakho kunye nomgangatho wobomi bakho kwinqanaba eliphezulu. Ngoko ke eyona nto ibalulekileyo kukulandela icebiso likagqirha wakho ngaphandle kokukhathazeka.

Iyintoni imbonakalo yesifo saseDanon?

Imbonakalo yeDanon Disease, oko kukuthi, indlela esiza kukuchaphazela ngayo esi sifo, ixhomekeke kwizinto ezininzi. Ezi ziquka ukuba zithini iimpawu zakho, ukuba zinzima kangakanani, kunye nokuba isifo siqhubeka ngokukhawuleza kangakanani. Ugqirha wakho unokukunika iingcebiso ezifanelekileyo malunga nemeko yakho ethile.

Isifo saseDanon kunye nexesha lokuphila

Ngokomndilili, ubomi obulindelekileyo bamadoda aneDanon Disease bumalunga neminyaka eli-19, kwaye obabasetyhini bumalunga neminyaka engama-34. Abantu abaninzi badinga ukufakelwa intliziyo. Kungokwemvelo ukuziva usoyika xa ubona ezi zibalo. Kodwa khumbula, ezi zizinto eziqhelekileyo. Wonke umntu wahlukile.

Iqela lakho lezonyango liza kusebenzisana nawe ukulawula iimpawu zakho. Liza kukufundisa nokuba wena nosapho lwakho ninokufumana phi inkxaso eniyifunayo.

Ndingawunciphisa na umngcipheko womntwana wam wokufumana isifo iDanon?

Isifo saseDanon sibangelwa kukuguquka kwezakhi zofuzo. Ngoko ke, akukho nto unokuyenza ukunciphisa umngcipheko womntwana wakho wokufumana esi sifo. Ukuba kukho umntu kusapho lwakho onesifo saseDanon, licebo elihle ukuthetha nogqirha wakho malunga novavanyo lwezakhi zofuzo ngaphambi kokukhulelwa, olunokwenziwa ngexesha lokukhulelwa .

Ngubani owafumanisa isifo saseDanon okokuqala?

Esi sifo saqala ukuchazwa ngo-1981 yingcali yezifo zengqondo yaseMelika uMaurice Danon, MD . Wafikelela kwezi zigqibo emva kokuvavanya izigulana ezibini eziselula ezazineengxaki zengqondo, iintliziyo ezinkulu (intliziyo), kunye nobuthathaka bemisipha (i-proximal myopathy).

Ukufumanisa ukuba unesifo esingaqhelekanga semfuza esifana nesi kunokuba nzima kakhulu kwaye kube nzima. Njengoko uqala ukuphila nale meko, zama ukuyinyamezela imihla ngemihla. Fumana inkxaso kwiqela lakho lezonyango, abahlobo, kunye nosapho. Ngenxa yokuba le meko ingaqhelekanga, unokufuna ukuxelela abanye ngayo. Nokuba kwi-intanethi, kunokuba nzima ukufumana abanye abantu abakwimeko efanayo. Nangona kunjalo, ungafumana inkxaso kumaqela adibanisa izigulane kunye neentsapho ezinezinye izifo ezingaqhelekanga okanye iingxaki zentliziyo.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo saseDanon sisifo esinzima. Nangona kunjalo, khumbula ezi zinto zilandelayo:

• Isifo saseDanon sisifo esibangelwa lufuzo. Asibangelwanga yimpazamo yomntu.
• Iimpawu azifani kubo bonke abantu. Kukho umahluko phakathi kwamadoda nabafazi.
• Kubaluleke kakhulu ukuxilonga isifo kwangethuba uze uqale unyango. Oku kunokunciphisa iingxaki.
• Nangona esi sifo singenakunyangwa ngokupheleleyo, kukho unyango olunokulawula iimpawu.
• Awuwedwa. Iqela elinobuchule loogqirha, iintsapho kunye namaqela enkxaso akhona ukukunceda.
• Ingcebiso ngemfuza inokuba yinto ebaluleke kakhulu kwiintsapho.

Ngokulandela unyango olucetyiswe ngoogqirha bakho naphantsi kwesikhokelo sabo, ungaphila ubomi obungcono kakhulu. Siyathemba ukuba olu lwazi luza kukunceda.

"Isifo saseDanon, isifo saseDanon, isifo semfuza, isifo sentliziyo, iCardiomyopathy, ubuthathaka bemisipha, iLysosomal Storage Disorder, iLAMP2 gene