Ngaba umzimba okanye umchamo wosana lwakho olusandul’ ukuzalwa unuka kamnandi ngendlela engaqhelekanga, njengesiraphu yemaple? Usenokucinga ukuba yinto eqhelekileyo. Kodwa inokuba luphawu lwemeko enzima engafanele ingananzwa kwaye ifuna unyango olukhawulezileyo. Le meko ibizwa ngokuba sisifo se-maple syrup urine, okanye iMSUD ngamafutshane. Namhlanje, siza kuthetha ngayo ngendlela elula neqondakala lula.
Yintoni kanye kanye isifo somchamo we-maple syrup (MSUD)?
Ngamafutshane, iMaple Syrup Urine Disease (MSUD) yimeko yemfuza ebakho ekuzalweni, ehlala ubomi bonke, kwaye inokubeka ubomi esichengeni ukuba ayinyangwa ngokufanelekileyo. Yingxaki ye-metabolic. Ingxaki ye-metabolic disorder ingavakala inzima kuwe. Kodwa ilula kakhulu. Kuthetha ukuba kukho ingxaki kwinkqubo apho imizimba yethu iguqula ukutya esikutyayo kube ngamandla.
Kwi-MSUD, imizimba yethu ayikwazi ukuqhekeza ngokufanelekileyo ii-amino acids ezithile, iibhloko zokwakha iiproteni, kwaye iziguqule zibe ngamandla. Le ngxaki iyenzeka kwii-amino acids ezintathu ngokukodwa:
- I-Leucine
- I-Isoleucine
- Valine
Kubantu abazalwa beneMSUD, ezi amino acid zintathu aziphuli kakuhle emzimbeni, ngoko ke ziqokelelana emzimbeni ziye kumanqanaba anobuthi . Le meko inobuthi luphawu oluphambili lwesi sifo, olulivumba lesiraphu yemaple okanye iswekile etshisiweyo kumchamo , kwi-earwax, nakwi-sweat.
Ukuba ubona naziphi na ezi mpawu kumntwana wakho, funa uncedo lwezonyango ngokukhawuleza. Ukuba anyangwa ngokukhawuleza, i-MSUD inokukhokelela kwiingxaki ezinkulu, ezinje ngokukhula okungalindelekanga, ukukhubazeka kwengqondo, kwanokufa.
Ziziphi iintlobo eziphambili ze-MSUD?
I-MSUD inokwahlulwa ibe ziintlobo ezine eziphambili. Ayizizo zonke iintlobo ezifanayo. Ezinye zinzima kakhulu, ngelixa ezinye zingenamandla kangako.
| Uhlobo lwesifo | Inkcazo |
|---|---|
| I-MSUD yakudala | Olu lolona hlobo lwe-MSUD lubi kakhulu kwaye luxhaphakileyo. Iimpawu zihlala zibonakala kwiintsuku ezintathu zokuqala emva kokuzalwa. |
| I-MSUD ephakathi | Olu hlobo alunabungozi kangako kunelo lwakudala. Iimpawu zihlala zibonakala phakathi kweenyanga ezi-5 kunye neminyaka esi-7 ubudala. |
| I-MSUD engapheliyo | Abantwana abalolu hlobo bakhula ngendlela eqhelekileyo, kodwa iimpawu zibonakala ngequbuliso xa umzimba ujongene nosulelo okanye xa kukho uxinzelelo lwengqondo. |
| I-MSUD ephendula kwi-Thiamine | Olu luhlobo olukhethekileyo kakhulu. Aba baguli basabela kakuhle kunyango olune-vitamin B1 (thiamine) eninzi. Kunye noko, kufuneka ulawulo lokutya. |
Ingaba esi sifo sixhaphakile?
Hayi. I-MSUD sisifo esingaqhelekanga . Ehlabathini lonke, sichaphazela umntwana omnye kuphela kwi-185,000 ezizalwayo.
Nangona kunjalo, esi sifo sixhaphake kakhulu phakathi kwamanye amaqela eentlanga. Oku kuxhaphake kakhulu phakathi kwabantu abavela kusapho olunye okanye kumnombo omnye, oko kukuthi, abantu abatshata nezalamane ezisondeleyo. Oku kungenxa yokuba i-gene ebangela esi sifo ixhaphake kakhulu kwezo ndawo.
Zithini iimpawu ze-MSUD? Ungayibona njani imeko engxamisekileyo?
Kubaluleke kakhulu ukuqaphela iimpawu kuba kuyanceda ekuqaliseni unyango ngokukhawuleza.
Khawucinge ngomama onosana olusandul’ ukuzalwa oqaphela ivumba elingaqhelekanga nelimnandi xa etshintsha i-napkin yomntwana wakhe okanye emgona. Ekuqaleni, usenokungayinaki loo nto. Kodwa emva kweentsuku ezimbini okanye ezintathu, umntwana akakwazi nokusela ubisi, usoloko ekhala, kwaye ubonakala ediniwe. Kulapho kufuneka ucinge ngokukhawuleza ukuba oku akuqhelekanga.
Ukuba ayinyangwa, le meko inokuqhubela phambili ibe yingxaki ye-metabolic, imeko engxamisekileyo eyingozi kakhulu.
| Iimpawu zokuqala | Iimpawu zeNgxaki yeMetabolic |
|---|---|
| Ivumba elimnandi elivela kumchamo , ukubila, okanye i-earwax. | Ukushwabana kwemisipha okungaqhelekanga (intloko yomntwana, intamo, kunye nomqolo wakhe ugoba ngasemva). |
| Ukudinwa, ukozela, kunye nokuphelelwa bubomi. | Ukuxhuzula okanye ukuxhuzula (iintshukumo zomzimba ezingalawulekiyo). |
| Ukukhala rhoqo nokungazoli. | Ukuhlanza. |
| Ukwala ukutya (ukungaseli ubisi). | I-Coma. |
Ingqalelo: Ingxaki ye-metabolic yimeko esongela ubomi. Ukuba ubona ezi mpawu, kufuneka umse umntwana wakho kwisebe likaxakeka lesibhedlele (ETU) ngoko nangoko.
Kwanasebantwaneni nakubantu abadala abafunyaniswe beneMSUD, olu hlobo lwengxaki ye-metabolic lunokubangelwa yinto efana nosulelo, ingozi, okanye uxinzelelo olukhulu. Ngoko ke kubalulekile ukuhlala uqaphela oku.
Kutheni esi sifo senzeka?
I-MSUD ibangelwa lutshintsho lwemfuza , olufunyanwa ngabazali ukuya ebantwaneni.
Ngamafutshane, imizimba yethu ifuna uhlobo oluthile lwe-enzyme ukuze iqhekeze ii-amino acids esithethe ngazo ngaphambili: i-leucine, i-isoleucine, kunye ne-valine. Iijini zethu zisiyalela ukuba senze ezi enzymes.
Umntu one-MSUD une-mutation, okanye isiphene, kwezi gene ezinika imiyalelo. Oku kubangela:
- I-enzyme efanelekileyo isenokungaveliswa konke konke emzimbeni.
- Okanye, ii-enzymes ezinganeleyo zisenokungaveliswa .
- Ngamanye amaxesha, nangona ii-enzymes ziveliswa, zisenokungasebenzi kakuhle .
Nokuba siyintoni na isizathu, ekugqibeleni kwenzeka ukuba ezo amino acid zintathu ziqokelelana emzimbeni zize zifikelele kumanqanaba anobuthi.
Esi sifo sizuzwa njani njengelifa?
Oku kuzuzwe njengelifa kwipateni ye-autosomal recessive . Oku kuvakala njengegama elintsonkothileyo, akunjalo? Masiyigcine ilula.
Ukuze umntwana abe nesi sifo, umama notata kufuneka babe ngabathwali bejini enesiphene. Umthwali uthetha ukuba umntu unekopi elungileyo kunye nekopi enesiphene yejini emzimbeni wakhe. Abathwali abaphuhlisi esi sifo. Oku kungenxa yokuba ikopi elungileyo yejini yenza i-enzyme efunekayo.
Nangona kunjalo, ukuba bobabini abazali bangabathwali, umntwana anokufumana ilifa le-gene enesiphene kumama nakutata. Kuphela xa zombini ii-genes ezinesiphene zifunyenwe njengelifa apho umntwana aya kuba ne-MSUD.
Ziziphi iingxaki ezinokubakho zesi sifo?
Iityhefu eziqokelelana emzimbeni zingonakalisa iinkqubo ezininzi zezitho zethu zomzimba. Ukuba azinyangwanga okanye azilawulwa kakuhle, ezi ngxaki zilandelayo zinokwenzeka:
- Ukonakala kwengqondo , iingxaki zenkqubo yemithambo-luvo, kunye nokulibaziseka kokukhula.
- Umngcipheko okhulayo weengxaki zempilo yengqondo ezifana nesifo sokungakwazi ukugxila kakhulu (ADHD), ixhala kunye nokudakumba.
- Ukuncipha kobunzima bamathambo ( i-osteoporosis ), okunokubangela ukuba amathambo aphuke lula.
- Ukudumba kwepancreas ( i-pancreatitis ), ingakumbi xa kukho ingxaki ye-metabolic.
- Iintloko ezibuhlungu ezingapheliyo ezibangelwa kukunyuka koxinzelelo ekhakhayini.
- Iingxaki zokunyakaza ezifana nokungcangcazela kunye nokuxinana kwemisipha okungalawulekiyo.
- Ukungakwazi ukuphumla okanye ukufa kunokubangela usulelo, uxinzelelo, okanye ukutya okungafanelekanga.
Ungasixilonga njani esi sifo? (Ukuxilongwa)
I-MSUD eqhelekileyo idla ngokufunyaniswa ngexesha lokuhlolwa kweentsana ezisandul’ ukuzalwa, oku kukuvavanywa kwegazi.
Ukongeza, uvavanyo lunokwenziwa ngexesha lokukhulelwa ukuze kuqinisekiswe ukuba umntwana unesifo na. Oku kungenziwa ngokuthatha isampuli encinci ye-placenta ( i-chorionic villus sampling ) okanye ukuvavanya ulwelo lwe-amniotic olujikeleze umntwana ( i-amniocentesis ).
Abantwana abanezinye iintlobo ze-MSUD basenokungabonakalisi zimpawu kwasebuntwaneni. Iimpawu zisenokungabonakali de kube yiminyaka eliqela kamva. Ngelo xesha, ugqirha uya kuqinisekisa isifo ngovavanyo lwegazi kunye novavanyo lwemfuza . Kwakhona, ivumba elimnandi elikhethekileyo eliphuma emzimbeni womntwana liyimbonakaliso enkulu yesifo.
Ziziphi iindlela zonyango ze-MSUD?
Nangona kungekho nyango lwe-MSUD, inokulawulwa kakuhle kwaye ubomi obuqhelekileyo bunokufezekiswa. Unyango luneenjongo ezimbini eziphambili:
1. Ukulawula amanqanaba ezo amino acid zintathu emzimbeni.
2. Nika unyango olungxamisekileyo ukuba kukho ingxaki ye-metabolic.
1. Ukutya
Le yeyona nxalenye ibalulekileyo yokulawula i-MSUD. Isigulana kufuneka silandele ukutya okungqongqo ubomi baso bonke. Oko kuthetha ukunciphisa ukutya okuneproteni eninzi. Kuba ezo amino acid zintathu zinengxaki zifumaneka kwiproteni.
| Ukutya okuphambili ekufuneka kuncitshiswe | |
|---|---|
| Iimveliso zenyama | Inyama yenkomo, inyama yehagu, inkukhu, intlanzi. |
| Iimveliso zederi | Ubisi, itshizi, amaqanda. |
| Iimbotyi | Iikhetshi, iipeanuts, iitshizi, iimbotyi, iilentils. |
Usana olusandul’ ukuzalwa lunikwa uhlobo olukhethekileyo lomgubo wobisi olungenazo ezi amino acid zintathu, kodwa olunazo zonke ezinye izondlo.
Kubalulekile ukusebenzisana nengcali yesondlo ukuze uphuhlise isicwangciso sokutya esikhuselekileyo nesinempilo esifanelekileyo kumguli ngamnye.
2. Ukubekwa esweni rhoqo
Isigulana esine-MSUD kufuneka sibe phantsi kweliso likagqirha ubomi baso bonke. Uvavanyo lwegazi nomchamo lwenziwa rhoqo ukujonga amanqanaba e-amino acid emzimbeni. Ukutya kulungiswa ngokusekelwe kwiziphumo.
3. Unyango olungxamisekileyo lweengxaki ze-metabolic
Ukuba ubonakalisa iimpawu zengxaki ye-metabolic, kufuneka ulaliswe esibhedlele ngoko nangoko. Esibhedlele, iqela lezonyango linokubonelela ngonyango olulandelayo:
- Amanqanaba e-amino acid alawulwa ngokunika i-glucose emithanjeni (IV) kunye ne-insulin.
- Izondlo eziyimfuneko, kodwa ezingenabungozi, zinikwa umzimba ngetyhubhu ye-nasogastric okanye i-IV.
- I-Hemodialysis yenziwa ukuze kususwe izinto ezinobuthi egazini.
- Iingxaki ezinje ngokudumba kwengqondo zijongwa rhoqo kwaye unyango oluyimfuneko luyabonelelwa.
Ngaba esi sifo singanyangeka ngokufakelwa isibindi?
Ewe. Eli lelona themba lilungileyo kwizigulane ze-MSUD.I-MSUD yakudala inokunyangeka ngempumelelo ngokufakelwa isibindi.
Isizathu soku kukuba i-enzyme eqhekeza ii-amino acids ezinengxaki iveliswa ikakhulu sisibindi. Ngoko ke xa isibindi esisempilweni sitshalwa kwenye indawo, eso sibindi sivelisa i-enzyme efunekayo. Emva koko, isigulana sinokuphila ubomi obuqhelekileyo ngaphandle kwemida yokutya okanye iimpawu.
Nangona kunjalo, ukufakelwa isibindi lutyando olukhulu. Lunemingcipheko. Lukwafuna amayeza okuthintela amasosha omzimba ubomi bonke ukuthintela umzimba ukuba ungalamkeli isibindi esitsha. Nangona kunjalo, le ndlela izise abantu abaninzi iziphumo ezingcono kunokuhlala ne-MSUD.
Ngaba ikho indlela yokuthintela esi sifo?
Ngenxa yokuba iMSUD sisifo esibangelwa lufuzo, ayinakuthintelwa ngokupheleleyo. Nangona kunjalo, umngcipheko wokuba umntwana afumane esi sifo unokuncipha.
Ukuba kukho umntu kusapho lwakho one-MSUD, kubalulekile ukuthetha nogqirha wakho ngayo ngaphambi kokuba nibe nomntwana. Wena neqabane lakho ningenza uvavanyo lwemfuza ukuze nibone ukuba ningabathwali na. Ukuba nobabini ningabathwali, ningathetha nomcebisi wezemfuza malunga nomngcipheko wakho wokudlulisela esi sifo kumntwana wakho kunye namanyathelo onokuwathatha ukuthintela eso sifo.
Umyalezo Wokuya Ekhaya
- Ukuba umchamo womntwana wakho, ukubila, okanye i-earwax inuka njenge-maple syrup, ungaze uyityeshele loo nto. Isenokuba luphawu olukhulu lwe-MSUD.
- I-MSUD yimeko ehlala ubomi bonke efuna ukutya okungqongqo okulinganiselweyo kwiproteni kunye nokuhlolwa rhoqo ngugqirha ukuze kulawulwe.
- Ukuba umntwana wakho ubonisa iimpawu zokuxhuzula, ukozela kakhulu, okanye ukuhlanza, oko kungaba "yingxaki ye-metabolic." Le yingxamiseko. Yisa umntwana wakho kwigumbi likaxakeka lesibhedlele (ETU) ngokukhawuleza.
- Ukuxilongwa kwangoko kunye nonyango kwangethuba kunokuthintela iingxaki ezinkulu kwaye kunike umntwana ithuba lokuphila ubomi obusempilweni.
- Esi sifo sinokunyangwa ngempumelelo ngokufakelwa isibindi, onokuthetha ngaso nogqirha wakho.
💬 Comments (0)
Akukho zimvo zithunyelweyo okwangoku. Faka uluvo lwakho apha okokuqala.
Faka uluvo lwakho