Ingabe ukhona emndenini wakho onesifo iDanon Disease? Ake sixoxe ngaso!

Wake wezwa ngeDanon Disease? Leli gama lingase libe lisha kuwe. Liyisifo esingavamile, esihambisana nofuzo esingabathinti abantu abaningi. Kodwa kufanelekile ukuqaphela ngoba singathinta inhliziyo, imisipha, amehlo, ngisho nobuchopho. Ake sixoxe ngakho ngokuningiliziwe namuhla.

Iyini iDanon Disease?

Kalula nje, i-Danon Disease iyisimo esingavamile esingadluliselwa ngofuzo lwethu kusuka esizukulwaneni kuya kwesinye. Singalimala izingxenye ezahlukene zomzimba wethu, ikakhulukazi inhliziyo, imisipha, i-retina, kanye nobuchopho . Kodwa-ke, akuwona wonke umuntu ozoba nezimpawu ezifanayo, ziyahlukahluka kuye ngomuntu nomuntu.

Isifo i-Danon singeseqembu elikhulu lezifo ezibizwa ngokuthi 'i-Lysosomal Storage Disorders' (LSD). Kunezinhlobo zezifo ezingaphezu kuka-50 ngaphansi kwaleli qembu. Cabanga nje, ngaphakathi kwamaseli ethu kunezingxenye ezifana nezimboni ezincane ezibizwa ngokuthi 'i-lysosomes'. Umsebenzi oyinhloko walokhu ukudiliza nokuhlanza izinto ezingadingekile kanye nemfucuza ekhiqizwa ngaphakathi kwamaseli. Kufana nokukhipha udoti endlini yethu.

Ngakho-ke, amangqamuzana omuntu onale 'Lysosomal Storage Disorder' awakwazi ukwenza lo msebenzi ngendlela efanele. Kwenzekani-ke? Lezo zinto ezingafuneki, ubuthi, ziqala ukuqongelela ngaphakathi kwamangqamuzana. Ngokuhamba kwesikhathi, lobu buthi obuqongelelwe bulimaza amangqamuzana, futhi ngawo, izitho zomzimba. Yilokhu okwenzekayo esifweni saseDanon.

Lesi sifo sizuzwe njengefa . Lokhu kusho ukuthi sivame ukudluliselwa kusuka kubazali kuya ezinganeni. Ikakhulukazi, abafana banamathuba amaningi okuthola lesi sifo futhi babe nezimpawu ezimbi kakhulu kunamantombazane.

Ziyini izimpawu zesifo i-Danon?

Nakuba izimpawu zesifo i-Danon zihluka kumuntu nomuntu, kunezimpawu eziningana eziyinhloko ezingabonakala:

• I-Cardiomyopathy: Lokhu kuvame ukuba uphawu lokuqala oluvelayo. Kungafaka phakathi ubuhlungu besifuba noma ukuqina, ukukhathala, ukuphaphazela noma ukushaya ngamandla esifubeni. Ngezinye izikhathi, ukuphefumula okunzima kanye nokuvuvukala emilenzeni nakho kungaba khona.
• Ubuthakathaka bemisipha (Myopathy): Cabanga nje, unenkinga yokuhlala esihlalweni, ukuhamba, noma uzizwa ubuthakathaka emhlane wakho, entanyeni, emahlombe, ezingalweni ezingaphezulu, noma emilenzeni engaphezulu. Uma ungumntwana omncane, ungase ulahlekelwe isithakazelo sokugijima nokudlala, noma ungase ube nobunzima bokukhuphuka izitebhisi. Lezi izimpawu zobuthakathaka bemisipha.
• Izinkinga zamehlo (i-Retinopathy): Lokhu kungabangela ukubona okufiphele, ukuntanta kwamehlo, noma ukukhanya. Lokhu kungenza kube nzima ukufunda noma ukubukela i-TV.
• Ukukhubazeka kwengqondo: Lokhu kuvame kakhulu kubafana. Izinkinga zokuziphatha, njengokushintsha kokuziphatha lapho useduze nabanye, kanye nokulibaziseka okuvamile kokukhuluma noma ulimi, kuvamile. Nakuba kungavamile kakhulu, izinkinga zengqondo nazo zingavela. Izibonelo zifaka phakathi ubunzima bokugxila emsebenzini wesikole kanye nesivinini esincane sokufunda izinto ezintsha.

Indlela ubulili obuthinta ngayo

Kubafana, izimpawu zivame ukuqala ukubonakala besebancane, okungukuthi, ngesikhathi sobuntwana noma ngesikhathi sobusha . Futhi lezi zimpawu zivame ukuthuthuka ngokushesha futhi zibe zimbi kakhulu.

Kodwa uma ubheka amantombazane, ngezinye izikhathi kungase kungabi nazimpawu nhlobo. Noma, izimpawu zingase zivele ekupheleni kobusha noma ekuqaleni kokukhula. Izimpawu emantombazaneni zivame ukukhula kancane, futhi ngokuvamile azibi zimbi kakhulu. Kodwa-ke, kubalulekile ukukhumbula ukuthi kwezinye izimo zingaba zimbi kakhulu.

Izinhlobo ze-Cardiomyopathy

Kunezinhlobo ezimbili eziyinhloko ze-cardiomyopathy ezibonakala kwiDanon Disease:

• I-Hypertrophic Cardiomyopathy: Lolu uhlobo oluvame kakhulu. Kalula nje, ukuqina kwemisipha yenhliziyo okungajwayelekile.
• I-Dilated Cardiomyopathy: Lokhu kuvame kakhulu kwabesifazane. Yilapho amakamelo enhliziyo ekhula khona futhi inhliziyo iba buthakathaka.

Yiziphi izimbangela zesifo iDanon?

Imbangela eyinhloko yeDanon Disease izinguquko, noma ukuguquka kwezakhi zofuzo ezithile ezibizwa ngokuthi `LAMP2`. Njengoba wazi, konke emzimbeni wethu kulawulwa izakhi zofuzo. Njengesofthiwe ekhompyutheni, lawa mazakhi zofuzo afundisa nokusebenza kwemizimba yethu.

Ngakho-ke, abacwaningi bakholelwa ukuthi uma kukhona ushintsho kulesi sakhi sofuzo esithi 'LAMP2', kuba nenkinga ethile odongeni noma olwelwesini lwengxenye yeseli ebizwa ngokuthi i-lysosome engikhulume ngayo ekuqaleni. Kodwa-ke, akukabikho ukuqonda okucacile okungu-100% kokuthi lesi sifo senzeka kanjani. Ucwaningo lusaqhubeka ngalokho.

Isifo iDanon sitholakala kanjani?

Uma wena noma udokotela wakho nibona izimpawu zeDanon Disease, bangase bakusole. Udokotela wakho uzobe esekubuza ngezimpawu zakho. Ngaphezu kwalokho, bazokwenza izivivinyo eziningana ukuqinisekisa iDanon Disease futhi bakhiphe ezinye izimo.

Ngokuyinhloko, ukuhlolwa kwe-DNA (ukuhlolwa kwezakhi zofuzo) kusiza ekuxilongeni lesi sifo. Lokhu kunganquma ngokunembile ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`LAMP2`.

Kuye ngezimpawu zakho, udokotela wakho angase ancome ukuhlolwa okwengeziwe. Isibonelo:

• Ukuhlolwa kwegazi (Umsebenzi welabhorethri (wegazi).
• Ukuhlolwa kwamehlo.
• I-ultrasound.
• Ukuhlolwa kwe-CT scan (i-computed tomography scan).
• Ukuhlolwa kwe-MRI (magnetic resonance imaging).
• I-biopsy yemisipha yamathambo ( kuthathwa ingxenye encane yemisipha bese ihlolwa).

Kukhona nokuhlolwa kwenhliziyo okukhethekile ukuze kubonwe ukuthi inhliziyo isebenza kahle kangakanani:

• i-biopsy yenhliziyo - i-biopsy yenhliziyo (ukuthatha ingxenye encane yenhliziyo ukuze iyohlolwa).
• I-MRI yenhliziyo.
• Ukuhlolwa kwe-ECG (Electrocardiogram - EKG) (ukuqopha umsebenzi kagesi wenhliziyo).

Yiziphi ezinye izimo ezifana neDanon Disease?

Kunezinye izimo zezokwelapha ezingase zifane neDanon Disease. Yingakho kubalulekile ukuthola ukuxilongwa okunembile. Nazi izifo ezimbalwa ezinezimpawu ezifanayo:

• Isifo sokugcina i-glycogen esizalwa naso (GSD) senhliziyo.
• I-autophagic vacuolar myopathy yezinsana.
• Ezinye izifo zenhliziyo, isibonelo i-sarcomeric hypertrophic cardiomyopathy noma i-dilated cardiomyopathy.
• Isifo sikaPompe.
• I-Wolff-Parkinson-White (WPW) syndrome – Lokhu kungabonakala ngezinye izikhathi kanye nesifo saseDanon.
• I-myopathy exhumene no-X ene-autophagy eningi.

Lokhu kungase kuzwakale kuyinkimbinkimbi kancane, kodwa odokotela bacabangela konke lokhu bese bethola ukuxilongwa okunembile.

Yiziphi izindlela zokwelapha isifo i-Danon?

Ukwelashwa kweDanon Disease kuncike ezimpawini zakho kanye nobunzima bazo. Ithimba lakho lezokwelapha lizosebenzisana nawe ukuthuthukisa uhlelo lokwelashwa olukulungele. Lokhu kungafaka:

• Amadivayisi okusiza: Isibonelo, izibuko zamehlo noma ezinye izinsiza zokubona, izinsiza zokuzwa, inqola yokuhamba, noma isihlalo sabakhubazekile.
• Ukwelapha ngengqondo - ukwelashwa ngenkulumo noma ukwelashwa ngenkulumo.
• Uma kukhona izinkinga zokufunda, usizo lwezemfundo luyatholakala.
• Ukwelashwa ngokomzimba ukuze kuqiniswe imisipha.

Ngezinkinga zenhliziyo, uchwepheshe wakho angancoma izinto ezifana nalezi:

• I-implantable cardioverter defibrillator (ICD) isetshenziselwa ukwelapha ukungalingani kwesigqi senhliziyo (i-arrhythmia).Uma lokhu kubangela ukuthi ukushaya kwenhliziyo kungazelelwe kube okungajwayelekile, kungalungiswa.
• I-monitor ye-Holter yokuqopha umsebenzi wenhliziyo yakho usuku lonke.
• Imithi yokulawula izinkinga zenhliziyo, ikakhulukazi i-cardiomyopathy.
• Ukwelashwa okufana nokwelashwa kwe-ablation ukwelapha ukushaya kwenhliziyo okungajwayelekile.

Uma i-cardiomyopathy iba yimbi ngokushesha, kungadingeka ukufakelwa inhliziyo . Ukuxilongwa kusenesikhathi kanye nokwelashwa kubalulekile ukuvimbela izinkinga ezisongela ukuphila njengokufa kwenhliziyo ngokuzumayo kanye nokwehluleka kwenhliziyo kusenesikhathi .

Ubani ongaba seqenjini lami lokwelapha?

Uma welapha iDanon Disease, udokotela oyedwa akwanele. Kudinga ithimba lochwepheshe. Laba ochwepheshe basebenzisana nomhlinzeki wakho wokunakekelwa okuyinhloko (PCP) ukuze bakusize. Ithimba lakho lingafaka:

• Udokotela Wenhliziyo: Uchwepheshe wenhliziyo nemithambo yegazi.
• Ochwepheshe bokunakekelwa kwamehlo / Udokotela Wezinso: Ngezinkinga ezihlobene namehlo.
• Isazi Sezakhi Zofuzo: Umuntu ogxile kwezakhi zofuzo.
• Udokotela wezinzwa: Udokotela ogxile ebuchosheni, emgogodleni, kanye nasezinzwa.
• Isazi sezinzwa nemisipha: Isazi sezinzwa nemisipha.

Kuye ngesimo sakho sempilo kanye nemiphumela emibi oyitholayo, leli thimba lezokwelapha lizoqapha imithi yakho kanye nokwelashwa kwakho futhi lenze noma yiziphi izinguquko ezidingekayo.

Ingabe isifo saseDanon singelapheka?

Ngeshwa, ayikho ikhambi leDanon Disease. Kodwa-ke, udokotela wakho angancoma ukwelashwa okungasiza ekulawuleni izimpawu zakho nokugcina impilo yakho kanye nekhwalithi yokuphila ezingeni eliphezulu. Ngakho into ebaluleke kakhulu ukulandela iseluleko sikadokotela wakho ngaphandle kokwesaba.

Iyini inhloso yesifo iDanon Disease?

Umbono weDanon Disease, okungukuthi, ukuthi lesi sifo sizokuthinta kanjani, uncike ezintweni eziningana. Lokhu kufaka phakathi ukuthi izimpawu zakho ziyini, ukuthi zimbi kangakanani, nokuthi lesi sifo siqhubeka ngokushesha kangakanani. Udokotela wakho angakweluleka kangcono ngesimo sakho esithile.

Isifo saseDanon kanye nesikhathi sokuphila

Ngokwesilinganiso, isikhathi sokuphila samadoda anesifo iDanon singaba yiminyaka eyi-19, kanti esabesifazane singaba yiminyaka engama-34. Abantu abaningi badinga ukufakelwa inhliziyo. Kungokwemvelo ukuzizwa wesaba uma ubona lezi zibalo. Kodwa khumbula, lezi ziyizilinganiso nje. Wonke umuntu uhlukile.

Ithimba lakho lezokwelapha lizosebenzisana nawe ukulawula izimpawu zakho. Bazokufundisa nokuthi wena nomndeni wakho ningalutholaphi usizo oludingayo.

Ngingayinciphisa yini ingozi yengane yami yokuthola isifo iDanon Disease?

Isifo i-Danon sibangelwa ukuguquka kwezakhi zofuzo. Ngakho-ke, akukho ongakwenza ukunciphisa ingozi yengane yakho yokuthola lesi sifo. Uma othile emndenini wakho enesifo i-Danon, kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ngaphambi kokukhulelwa, okungenziwa ngesikhathi sokukhulelwa .

Ubani owathola isifo iDanon okokuqala?

Lesi sifo saqala ukuchazwa ngo-1981 ngudokotela wezinzwa waseMelika uMaurice Danon, MD . Wafinyelela kulezi ziphetho ngemuva kokuhlola iziguli ezimbili ezisencane ezazinokukhubazeka kwengqondo, izinhliziyo ezikhuphukile (i-cardiomegaly), kanye nobuthakathaka bemisipha (i-proximal myopathy).

Ukuthola ukuthi unesifo esingavamile sofuzo njengalesi kungaba nzima kakhulu futhi kukhungathekise. Njengoba uqala ukuphila nalesi simo, zama ukusithatha usuku nosuku. Thola ukwesekwa eqenjini lakho lezokwelapha, abangani, nomndeni. Ngenxa yokuthi lesi simo asivamile, kungase kudingeke utshele abanye ngaso. Ngisho naku-inthanethi, kungaba nzima ukuthola abanye abantu abasesimweni esifanayo. Kodwa-ke, ungathola ukwesekwa emaqenjini ahlanganisa iziguli nemindeni enezinye izifo ezingavamile noma izimo zenhliziyo.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo iDanon siyisimo esiyinselele. Kodwa-ke, khumbula lezi zinto:

• Isifo i-Danon siyisifo esibangelwa izakhi zofuzo. Asibangelwa yiphutha lanoma ubani.
• Izimpawu azifani kuwo wonke umuntu. Kukhona umehluko phakathi kwabesilisa nabesifazane.
• Kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi bese uqala ukwelashwa. Lokhu kunganciphisa izinkinga.
• Nakuba lesi sifo singelapheki ngokuphelele, kunezindlela zokwelapha ezingalawula izimpawu.
• Awuwedwa. Ithimba elinekhono lodokotela, imindeni, kanye namaqembu okusekelana likhona ukukusiza.
• Ukwelulekwa ngofuzo kungaba yinto ebaluleke kakhulu emindenini.

Ngokulandela izindlela zokwelapha ezinconywe odokotela bakho nangaphansi kwesiqondiso sabo, ungaphila impilo engcono kakhulu. Sithemba ukuthi lolu lwazi luzokusiza.

'Isifo saseDanon, isifo saseDanon, isifo sofuzo, isifo senhliziyo, i-Cardiomyopathy, ubuthakathaka bemisipha, i-Lysosomal Storage Disorder, i-LAMP2 gene