Ngaba umntwana wakho omncinci unazo ezi mpawu? Masiqaphele iPearson Syndrome

Ngaba umntwana wakho omncinci uhlala egula? Ngaba ubonakala ediniwe? Ngaba ngamanye amaxesha ufumana imivumbo ngokulula? Nangona ezi zinto zinokubonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha kunokubakho isizathu esinzulu esingasaziyo. Namhlanje siza kuthetha ngesimo sempilo esingaqhelekanga, kodwa esibi kakhulu. Esi sisifo esibizwa ngokuba yiPearson Syndrome.

Yintoni iPearson Syndrome?

Ngamafutshane, iPearson Syndrome sisifo esingaqhelekanga nesinzima se-mitochondria. Ngoku usenokuba uzibuza ukuba zeziphi ezi mitochondria. Khawuthelekelele ukuba yonke iseli emzimbeni wethu ifana nomzi-mveliso omncinci. Ezi fektri zifuna amandla ukuze zisebenze. Iindawo ezenza loo mandla, njengezityalo zamandla ezincinci, zibizwa ngokuba yi-mitochondria. Zizo ezi mitochondria eziguqula ukutya esikutyayo kube ngamandla kwaye zinike amandla afunekayo kuwo onke amalungu kunye nenkqubo emzimbeni wethu, njengesibindi, intliziyo, kunye nengqondo, ukuze zisebenze.

Kumntwana onePearson Syndrome, kukho utshintsho oluthile, okanye utshintsho oluthile, kwizinto zemfuza kwezi mitochondria, oko kukuthi, i-DNA ye-mitochondrial. Oku kuthintela iiseli ekuveliseni amandla ngokufanelekileyo. Oku kuchaphazela kakhulu amalungu abalulekileyo omntwana afana nomongo wethambo, i-pancreas, nesibindi.

Le meko idla ngokufunyaniswa isengumntwana. Inokubangela iingxaki ezahlukeneyo egazini lomntwana. Umzekelo:

• Ukuncipha kweeseli ezibomvu zegazi, oko kukuthi , i-anemia .
• Ukuncipha kweeseli ezimhlophe zegazi, oko kukuthi , i-neutropenia .
• Ukuncipha kweeplatelets (iiseli ezinceda ukujiya kwegazi), ezaziwa ngokuba yi -thrombocytopenia .

Esi sifo sikwabizwa ngokuba yiPearson bone marrow pancreatic syndrome.

Zithini ezi mpawu?

Umntwana onePearson Syndrome unokubonisa iimpawu ezahlukeneyo. Ayingomntwana wonke oza kuba nazo zonke ezi mpawu. Nangona kunjalo, kukho iimpawu eziqhelekileyo.

Iimpawu zokuqala ezibonakalayo

• Ukugruzuka lula: Nokuba iqhuma elincinci linokubangela ukugruzuka okukhulu okanye ukugruzuka.
• Ukudinwa rhoqo kunye nobuthathaka: Umntwana unokuziva elele ngalo lonke ixesha, ngokungathi akanawo amandla okudlala.
• Urhudo oluqhelekileyo (urhudo): Urhudo luhlala iintsuku ezininzi kwaye kunzima ukuluyeka.
• Izifo ezixhaphakileyo: Ukugula zizinto ezincinci, ukufumana umkhuhlane kunye nomkhuhlane rhoqo.
• Ukungaphumeleli ekukhuleni: Ukungakhuli mde okanye ukutyeba ngokukhawuleza njengabanye abantwana abaneminyaka efanayo. Kufana nokungatyebi nokuba sele utya.
• Ulusu oluphaphathekileyo: Ngenxa yokungabikho kwegazi emzimbeni, umbala wolusu uyatshintsha uze ube mthubi.
• Ubuthathaka bemisipha: Amalungu omzimba aziva ebuthathaka kwaye etyhafile.
• Ukuhlanza: Ukuhlanza rhoqo, ukungakwazi ukugcina ukutya okutyayo.
• Ukutyheli kolusu kunye namhlophe emehlweni (i-jaundice): Olu phawu lunokwenzeka xa ukusebenza kwesibindi kuchaphazelekile.

Ezinye iingxaki ezinokuvela ngokuhamba kwexesha

Njengoko uphila nesi sifo, iingxaki ezininzi zinokuvela ngokuhamba kwexesha. Ezinye zazo ziquka:

• Isifo seswekile: Isifo seswekile sinokuvela ngenxa yomonakalo kwi-pancreas.
• Ukulahlekelwa kukuva: Ukulahlekelwa kukuva kuyenzeka kancinci kancinci.
• I-Kearns-Sayre syndrome: Esi sisifo esichaphazela i-mitochondrial. Sichaphazela inkqubo yemithambo-luvo kunye nentliziyo.
• Iingxaki zokushukuma okanye ukuxhuzula: Oku kunokuquka ukungcangcazela kunye nokuxhuzula okungalawulekiyo kwamalungu omzimba.
• Iingxaki zokubona: Iimeko ezifana nokugoba kwamehlo, i-retinitis pigmentosa, kunye ne-cataracts zinokwenzeka.

Kutheni iPearson Syndrome isenzeka?

Sele sitshilo ukuba iPearson Syndrome ibangelwa ziziphene kwi-mitochondrial DNA (mtDNA) . Khumbula, i-mitochondria ziindawo ezivelisa amandla phantse kuzo zonke iiseli emzimbeni wethu. Ngoko ke, xa kukho isiphene kwezi mitochondria, iiseli azifumani amandla eziwadingayo. Emva koko ezo seli zonakala okanye zife ngaphambi kwexesha.

Cinga ngale ndlela: IiMitochondria zifana nenjini yemoto. Ukuba kukho ingxaki ngenjini, imoto ayisebenzi. Kwenzeka into efanayo nakwiiseli.

Izazinzulu azikaqondi kakuhle ukuba kutheni ezi ziphene ze-mitochondrial DNA (mtDNA) zenzeka, kwaye ezi ziphene zibangela njani ezi mpawu.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Uninzi lwexesha, iPearson Syndrome yenzeka ngaphandle kwesizathu esicacileyo. Oko kukuthi, ibangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga. Nangona kunjalo, kunqabile kakhulu , inokufunyanwa njengelifa, oko kuthetha ukuba inokudluliselwa ukusuka komnye umzali ukuya komnye. Kodwa iimeko ezinjalo zinqabile kakhulu, kwaye azikaqondwa ngokupheleleyo.

Oogqirha bayifumana njani le nto?

Ukuba ugqirha wakho ukrokrela ukuba umntwana wakho unePearson Syndrome, uya kuyalela uvavanyo oluthile. Ezinye zezi ziquka:

• Uvavanyo lwegazi: Jonga inani leeseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets egazini. Jonga nokusebenza kwesibindi kunye nezintso.
• I-biopsy yomongo wethambo:Oku kuquka ukuthatha inani elincinci lomongo wethambo esinqeni okanye kwenye indawo efanelekileyo phantsi kwe-anesthetic ekhanyayo uze uwuhlole phantsi kwe-microscope. Oku kunokubona iingxaki kwiiseli zegazi, ezifana neengxowa ezizaliswe lulwelo ngaphakathi kwiiseli okanye i-iron deposits kwiiseli ezibomvu zegazi.
• Uvavanyo lwesitulo: Oku kunceda ukufumana umbono wokusebenza kwepancreas.
• Uvavanyo lomchamo/lomchamo: Luhlola ukusebenza kwezintso kunye nezinye iingxaki.

Iziphumo zezi mvavanyo, ingakumbi i-bone marrow biopsy, zifundwa ngononophelo yingcali yezifo ukuqinisekisa ukuxilongwa.

Ziziphi iindlela zonyango lwePearson Syndrome?

Ngelishwa, akukho nyango lwePearson Syndrome. Unyango lwangoku lujolise ekunciphiseni iimpawu nokwenza umntwana azive ekhululekile kangangoko. Ezi ziquka:

• Utofelo-gazi: Igazi linikwa njengonyango lweemeko ezifana ne-anemia.
• Unyango lomzimba kunye nonyango lomsebenzi: Ezi zinto zibalulekile ekuqiniseni izihlunu zomntwana kwaye zimncede enze imisebenzi yemihla ngemihla.
• Ukufakelwa kweeseli zesiqu: Olu nyango lunokuba yimpumelelo kwabanye abantwana, kodwa lunyango oluntsonkothileyo kakhulu.
• Izongezo: Izongezo ezifana ne-coenzyme Q10, i-L-carnitine, kunye neevithamini ezahlukeneyo zinceda iiseli ukuvelisa amandla.
• Unyango lwezifo: Ngenxa yokuba izifo zenzeka rhoqo, ii-antibiotics zinikwa izifo ezibangelwa ziintsholongwane kunye nee-antivirals kwiintsholongwane ezibangelwa ziintsholongwane.

Abantwana abaphila emva kobuntwana kufuneka bajongwe ziingcali ezahlukeneyo malunga nesibindi sabo, izintso, intliziyo kunye nepancreas, njengoko la malungu anokuchaphazeleka ngokuhamba kwexesha.

Banokuphila ixesha elingakanani abantu abanale meko?

Oku kuyadanisa ukutsho. Uninzi lwabantwana abanePearson Syndrome, malunga nesiqingatha, bafa besebancinci okanye besebancinci. Bambalwa kakhulu abasindayo baze babe badala. Esi sifo ekugqibeleni sinokukhokelela kwi-lactic acidosis enzima (ukuqokelelwa kwe-lactic acid egazini) kunye nokungasebenzi kakuhle kwamalungu omzimba.

Ndiyazi ukuba uza kuziva ulusizi kakhulu, woyike, kwaye ucaphukile xa usiva oku. Le yimeko enzima ngokwenene ukuyinyamezela.

Ujongana njani nemeko enzima kangaka?

Xa ufumanisa ukuba umntwana wakho unePearson Syndrome, oko kunokuba ngumothuko onganyamezelekiyo kunye nentlungu kusapho lonke. Yinto eqhelekileyo leyo.

• Awuwedwa: Okokuqala, khumbula ukuba awuwedwa kule meko. Ujikelezwe ngoogqirha, abahlengikazi, usapho kunye nabahlobo abanokukunceda kwaye bakuqonde.
• Amaqela enkxaso: Kukho amaqela enkxaso adalwe ngabazali babantwana abanezifo ezingaqhelekanga. Ukujoyina elinye kunokukunceda uzive ungedwa. Xa abanye besabelana ngamava abo, unokufumana intuthuzelo kunye neengcinga.
• Funda, kodwa...: Asingoxanduva lwakho ukufundisa abanye nge-mitochondria kunye nePearson Syndrome. Zininzi iindawo onokufumana kuzo ulwazi ngayo.
• Cela uncedo: Abantu abakungqongileyo basenokufuna ukukunceda, kodwa basenokungazi ukuba bakwenze njani. Cacisa into oyifunayo. Mhlawumbi ufuna ixesha lokuba wedwa nomntwana wakho, okanye ufuna nje ixesha lokuba wedwa. Musa ukuba neentloni zokucela uncedo, njengokuya evenkileni, ukwenza imisebenzi yasekhaya, okanye ukunyamekela umntwana.
• Ukujongana neemvakalelo: Kunokuba nzima ukumelana neemvakalelo eziza kufundwa ukuba umntwana wakho unesifo esisongela ubomi. Ekubeni esi sifo singaqhelekanga, unokuziva uwedwa ngakumbi. Ekuqaleni, ukuya kumaqela enkxaso anje nokufuna ulwazi kunokubonakala kungadingeki. Kuqhelekile ukufuna ukuchitha ixesha elininzi kangangoko kunokwenzeka nomntwana wakho. Nangona kunjalo, khumbula ukuba kukho iindawo apho unokufumana khona uncedo olunjalo. Inkxaso enjalo ibaluleke kakhulu ekwabelaneni ngentlungu yakho, intlungu, kunye nokufumana amandla okumelana nayo.

Hlala ukhumbula ukuba "awuwedwa." Ungafumana amandla nolwalathiso olufunayo ngoogqirha, usapho, abahlobo, kunye namanye amaqela enkxaso.

Okokugqibela, khumbula oku.

I-Pearson Syndrome yimeko engaqhelekanga kodwa imbi kakhulu. Ibangelwa yingxaki ye-mitochondria, iindawo ezincinci ezinamandla ezinika amandla iiseli zethu. Oku kunokuchaphazela amalungu abalulekileyo afana nomongo wethambo lomntwana kunye nepancreas.

• Lumka ngeempawu: Ukuba umntwana wakho uneempawu ezifana nokudinwa rhoqo, ukuba mdaka, ukukrweleka okulula, okanye ukugula rhoqo, funa ingcebiso kagqirha.
• Ukuxilongwa ngokuchanekileyo kubalulekile: Kufuneka uvavanyo olukhethekileyo ukuze kufunyanwe isifo esingaqhelekanga esifana nesi.
• Unyango lujolise ekulawuleni iimpawu: Nangona kungekho nyango lupheleleyo, kukho unyango lokunciphisa iimpawu nokubonelela ngesiqabu kumntwana.
• Inkxaso yengqondo ibalulekile: Inkxaso yengqondo ibaluleke kakhulu kusapho olujongene nolu celomngeni. Yenza bazive ngathi ababodwa.

Ndiyathemba ukuba olu lwazi lukuncedile ukuba uqonde ngakumbi ngesi sifo singaqhelekanga. Ukuba unemibuzo engaphezulu malunga noku, nceda ungathandabuzi ukuthetha nogqirha wakho.

I- Pearson syndrome, i-mitochondria, umongo wamathambo, i-pancreas, i-anemia, izifo zemfuza, izifo zabantwana