Ingaba umntwana wakho omncinci unale sifo singaqhelekanga? (Nonketotic Hyperglycinemia - NKH) Masithethe ngale nto

Ngaba umntwana wakho osandul’ ukuzalwa uhlala elele, engenamdla wokuncancisa? Okanye ngaba unengxaki yokuphefumla? Kuqhelekile ukuba njengomzali uzive usoyika kakhulu xa ubona ezi zinto. Ngamanye amaxesha, kunokubakho imeko embi, nengaqhelekanga, emva kwezi mpawu. Enye yezi meko yi-`(Nonketotic Hyperglycinemia)` okanye `(NKH)`. Makhe sithethe ngale nto ngokweenkcukacha nangokulula namhlanje.

Uyazi ukuba kuthetha ukuthini oku `(NKH)`?

Ngamafutshane, ``Nonketotic Hyperglycinemia`` okanye ``NKH`` yimeko engaqhelekanga kakhulu yemfuza . Okwenzekayo kukuba umzimba womntwana wethu awukwazi ukulawula okanye ukuqhekeza imolekyuli ebizwa ngokuba yi``glycine``.

Ngoku usenokuba uzibuza ukuba yintoni i-`(glycine)`. `(Glycine)` yi -amino acid `(amino acid)`. Njengokuba izitena zifuneka ukwakha isakhiwo, ezi amino acid zibalulekile ekwakheni iiproteni emzimbeni wethu. Ngoko ke, xa umzimba womntwana ungakwazi ukulawula le `(glycine)` ngokufanelekileyo, iqala ukuqokelelana kwiindawo ezahlukeneyo zomzimba, ingakumbi engqondweni . Oku kubizwa ngokuba yi-`(hyperglycinemia)` xa inqanaba le-`(glycine)` linyuka ngokungeyomfuneko. Oku kunokubangela iingxaki ezinkulu ze-neurological, i-coma, kwaye ngamanye amaxesha nokufa komntwana.

Inxalenye "engeyiyo i-ketotic" yegama ibhekisa kwinto yokuba yahlukile kwezinye izifo ezinokubangela ukwanda kwe-glycine emzimbeni. I-NKH ikwabizwa ngokuba yi-inborn error of metabolism . Yimeko eyenzeka ekuzalweni kwaye ichaphazela indlela ezinye iikhemikhali ezisabela ngayo emzimbeni ezingenzeki ngayo ngokufanelekileyo. Elinye igama lale nto yi-glycine encephalopathy.

Ngaba kukho naziphi na iinguqulelo ze-`(NKH)`?

Ewe, abaphandi bahlula i-NKH kwiindidi ezimbini eziphambili: i-classical kunye ne-variant . Oku kubangelwa ziintlobo ezimbini zotshintsho kwiijini. Amagama athi i-classical kunye ne-variant i-NKH abhekisa kwijini enotshintsho.

I-Classical `(NKH)` yahlulwe kabini yaba ziintlobo ezimbini - ezinzima kunye nezinciphileyo . Ezi zahlulwe ngokweempawu ezinzima. Kwezi , ezi `(NKH)` zezona zixhaphakileyo .

Ixhaphake kangakanani le meko?

`(NKH)` sisifo esingaqhelekanga kakhulu . Ehlabathini lonke, malunga nesinye kwiintsana ezingama-76,000 sichaphazeleka sesi sifo. Ngoko ke musani ukoyika xa nisiva ngale nto. Nangona kunjalo, kubaluleke kakhulu ukuba niqaphele.

Zithini iimpawu zesifo `(NKH)`?

Iimpawu zeentlobo ze-"NKH" ezinzima nezincinci zihlala ziqala ekuzalweni . Ngamanye amaxesha, iimpawu zinokubonakala kwiinyanga ezimbalwa zokuqala zobomi.

Iimpawu zemeko enzima ye-`(NKH)`:

Izinto zokuqala ezinokuqatshelwa ziintsana ezine-`(NKH)` enzima zezi:

• Ukozela kakhulu (ukudinwa): Oku kunokwanda kancinci kancinci kuze kufikelele kwi-coma.
• Ubuthathaka bemisiphaI-Hypotonia: Usana lusenokuziva lungenabomi.
• Ubunzima bokuphefumla obusongela ubomi : Oku kunokubonwa kwiintsuku zokuqala zobomi.

Ukuba uyaziphepha ezi mpawu zokuqala, uza kubona oku kulandelayo:

• Ubunzima bokusela ubisi.
• Ukuyeka ukuphefumla ngamaxesha athile (i-apnea).
• Ukukhubazeka kwengqondo okunzulu .
• Ukuqina kwemisipha okungaqhelekanga (ukuxinezeleka).
• Ukuxhuzula okunzima ukukulawula .

Amaxesha amaninzi, aba bantwana abakwazi ukwenza amanyathelo aqhelekileyo okukhula, njengokukhasa, ukubamba ithoyizi, ukuhlala phantsi, nokusela ebhotileni. Nokuba bafunda into ethile, ezo zakhono 'zinokubuyela umva' ngokuhamba kwexesha. Khawuthelekelele indlela okubuhlungu ngayo oko kubazali.

Iimpawu ze-Attenuated NKH:

Iimpawu ze-NKH ethambileyo azinzima kangako kunezo ze-NKH eqatha, kodwa zihlala zifana. Abantwana abane-NKH ethambileyo badla ngokufikelela kwinqanaba labo lokukhula, kodwa izakhono zabo zinokwahluka kakhulu . Uphuhliso lunokulibaziseka, kodwa uninzi lwabantwana ekugqibeleni lufunda ukuhamba nokuthetha nabanye. Abanye abantwana banesithuthwane, kodwa ezi zihlala zilula kwaye ziyanyangeka. Ukongeza, iimpawu ezifana nokushukuma okungenanjongo (chorea), ukuqina kwemisipha (spasticity), kunye nokusebenza kakhulu (hyperactivity) nazo zinokubonakala.

Yintoni ebangela ukuba iintsana zikhule `(NKH)`?

Eyona nto ibangela oku kukutshintsha kwezakhi zofuzo, okanye utshintsho . Ngokukodwa, malunga ne-80% yezigulana zibangelwa lutshintsho kwizakhi zofuzo olubizwa ngokuba yi-`(GLDC)`. Ezinye zibangelwa lutshintsho kwizakhi zofuzo olubizwa ngokuba yi-`(AMT)`.

Ezi gene ze-`(GLDC)` kunye ne-`(AMT)` ziyalela umzimba wethu ukuba wenze `(iienzyme)` ezithile. Ezi `(iienzyme)` zisebenza kunye njengeqela. Eli qela libizwa ngokuba yi-`(glycine cleavage system )`. Oku kwenziwa yile nto kukuba xa singayidingi `(glycine)`, iyawahlulahlula abe ngamacandelo amancinci. Xa ubungakanani be-`(Glycine)` busanda, buphazamisana nokusebenza kwengqondo.

Ngoko ke, ukuba kukho utshintsho kwi-gene nganye kwezi zimbini, kuba nzima emizimbeni yethu ukuqhekeza i-glycine. Ezinye iinguqulelo ziyawunciphisa umsebenzi wale nkqubo yokuqhekeka kwe-glycine, ngelixa ezinye ziyisusa ngokupheleleyo. Xa le nkqubo ingasebenzi kakuhle, i-glycine eyongezelelweyo iyanda kwizitho zomntwana, ingakumbi ingqondo. Izazinzulu azikayazi kakuhle indlela ezi ngxaki ezinegalelo ngayo kwiimpawu ze-NKH.

Esi sifo ``(NKH)`` sizuzwe njengelifa kwi``autosomal recessive pattern``. Oku kuthetha ukuba zombini iikopi zejini kwiseli nganye kufuneka zibe notshintsho. Ngokwesiqhelo, bobabini abazali bebhayoloji bomntu one``(NKH)`` banekopi enye yale jini iguqukileyo, kodwa ababi nazimpawu.

Oogqirha bayixilonga njani isifo `(NKH)`?

Ukuze axilonge `(NKH)`, ugqirha womntwana wakho uya kuqala enze uvavanyo lomzimba aze ajonge iimpawu ngokusondeleyo. Emva koko,

• Inqanaba le-`(glycine)` kulwelo lwe-cerebrospinal (`(Cerebral Spinal Fluid - CSF)`) kunye ne-plasma yegazi`(plasma)` liyavavanywa. Xa umsebenzi we-`(enzyme)` ekhankanyiweyo uncipha, inqanaba le-`(glycine)` kwi-`(CSF)` kunye ne-plasma liyanyuka. Kwakhona, umlinganiselo phakathi kwenqanaba le-`(glycine)` kwi-`(CSF)` kunye nenqanaba le-`(glycine)` kwi-plasma nawo uyanyuka.
• I-MRI scan yengqondo nayo iluncedo kakhulu, njengoko ingabonisa indlela ethile yotshintsho kwiingqondo zeentsana ezine-NKH.
• Uvavanyo lwemfuza lunokujonga utshintsho kwenye yemfuza ezimbini ezibangela i-NKH.
• Kunqabile kakhulu ukuba iqhekeza elincinci lesibindi lithathwe ukuze lihlolwe (i-liver biopsy) ukuqinisekisa ukuxilongwa.

Ziziphi iindlela zonyango ze-`(NKH)`?

Ngenxa yokuba iintsana ezine-`(Nonketotic Hyperglycinemia)` zihlala zigula kakhulu, kufuneka zinyangwe kwi-`(Intensive Care Unit - NICU)` . Kwi-`(NICU)`, umntwana wakho uya kufumana unyango oluphezulu noluphezulu.

Ngelishwa, okwangoku akukho nyango lwe-`(NKH)` enzima . Nangona kunjalo, kwiintsana ezineentlobo ze-`(NKH)` ezithambileyo, ezinye iindlela zonyango zinokuba luncedo. Olu nyango kufuneka lunikwe kwangethuba nangobundlongondlongo ukuze lusebenze kakuhle.

Olu nyango lunokunikwa lodwa okanye ludityaniswe:

• Amayeza anciphisa inqanaba le-`(glycine)` emzimbeni womntwana (umz. `(sodium benzoate)` ).
• Amayeza asebenza ngokuchasene nesenzo se-`(glycine)` kwiiseli ezithile zemithambo-luvo (umz. `(ketamine)` okanye `(dextromethorphan)` ).

Ukulawula ukuxhuzula kubaluleke kakhulu. Ukuxhuzula kunokuba nzima ukulawula ngamayeza aqhelekileyo. Ukuze ufumane unyango oluphumelelayo, kunokufuneka udibanise amayeza aliqela, kwaye amanye amayeza, anjenge- valproic acid, anokufuneka aphetshwe. Ukutya okune-ketogenic kunokunceda ukulawula ukuxhuzula.

Unyango lwezinye iimpawu ze-`(NKH)`:

• Umoya woomatshini.
• Umbhobho ofakwa esiswini ukuze unike ukutya (umbhobho we-gastrostomy).
• Ulungiso lwenyama.
• Ukungenelela kwangoko kunye nenkxaso eyongezelelweyo.

Ukuba unako, buza ugqirha wakho malunga nokuba ungathatha inxaxheba kuvavanyo lweklinikhi .

Ingakanani ixesha lokuphila komntu one-`(NKH)`?

Kunzima ukutsho ukuba umntu one-NKH angaphila ixesha elingakanani. Oku kungenxa yokuba kukho utshintsho oluninzi lwemfuza kwaye ubukhali besifo buyahluka kakhulu. Nangona kunjalo, i-Foundation for Nonketotic Hyperglycinemia iqikelela ukuba ama-80% eentsana ezinesi sifo azisindi kwixesha losana olusandul’ ukuzalwa (inyanga yokuqala yobomi) . Nokuba ziyasinda kwixesha losana olusandul’ ukuzalwa, abantwana abaninzi abane-NKH enzima abaphili ngaphaya kweminyaka emi-5. Iqela lezonyango lomntwana wakho liya kukwazi ukukunika umbono ongcono ngale nto. Thembela kubuchule babo kunye nenkxaso. Ndiyaqonda ukuba kunzima kangakanani ukuva oku.

Ngaba esi sifo singathintelwa?

Hayi. (NKH) yimeko yemfuza kwaye ayinakuthintelwa . Ukuba ukhathazekile ukuba umntwana wakho angayifumana le meko njengelifa, kulungile ukuthetha nomcebisi wemfuza ngaphambi kokuba ucwangcise ukukhulelwa.

Ndifanele ndimse nini umntwana wam kugqirha?

Ukuba umntwana wakho osandul’ ukuzalwa ubonisa ukudinwa kakhulu okanye akanamdla wokuncancisa , kufuneka umse kugqirha wabantwana ngoko nangoko. Ugqirha angakuthumela kwicandelo likaxakeka lesibhedlele ukuze ufumane unyango olukhawulezileyo. Nokuba yintoni na imbangela yezi mpawu, kubalulekile ukuba ahlolwe ngoko nangoko.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Ukuba umntwana wakho une-`(NKH)`, ungabuza le mibuzo:

• Yintoni isizathu sokwenziwa kwe-`(NKH)`?
• Loluphi uhlobo lwe-`(NKH)` olunalo umntwana wam?
• Zeziphi iindlela zonyango ozicebisayo?
• Ngaba kukho naziphi na iimvavanyo ezinokuxela kwangaphambili ubukhali besi sifo?
• Umntwana wam angakhula kangakanani ngokweemfuno zakhe (ukuhamba, ukuthetha, ubukrelekrele)?
• Ngaba umntwana wam uza kusela amayeza ubomi bakhe bonke?
• Ngaba abantwana bam bexesha elizayo nabo bangakwazi ukuphuhlisa i-`(NKH)`?
• Ungacebisa iqela lenkxaso?

Xa umntwana wakho efunyaniswa ukuba uneNonketotic Hyperglycinemia (NKH), iindaba zinokuba ngummangaliso kwaye zibangele ukudideka. Kunokuba nzima ukwazi ukuba umntwana wakho unesifo esingaqhelekanga esingenazo unyango oluninzi. Ukuba kunokwenzeka, fumana iqela lenkxaso kwiintsapho zabantwana abane-NKH. Ukuthetha nabanye abaye badlula kwizinto ezifanayo nawe kunokukunika amandla kwaye kukuncede uhlangabezane nazo. Khumbula, iqela lezonyango lomntwana wakho likho ukukuxhasa kuyo yonke inyathelo lendlela.

## Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo oya nawo ekhaya)

• (NKH) sisifo esingaqhelekanga nesinzima kakhulu esibangelwa yimfuza .
• Oku kubangela ukuba ikhemikhali ebizwa ngokuba yi-"glycine" iqokelele emzimbeni womntwana, ingakumbi engqondweni .
• Iimpawu zihlala ziqala ekuzalweni kwaye zingabandakanya ukozela kakhulu, ubunzima bokutya, ubunzima bokuphefumla, kunye nokuxhuzula.
• Imeko enzima `(NKH)`Nangona kungekho nyango, kukho unyango oluncinci.
• Ukuba umntwana wakho unezi mpawu, kubalulekile ukufuna iingcebiso zonyango ngoko nangoko .
• Awuwedwa kolu hambo. Fumana uncedo kwiqela lakho lezonyango nakumaqela enkxaso . Amandla akho engqondo nawo abaluleke kakhulu.

Ndiyathemba ukuba olu lwazi luza kukunceda. Eyona nto ibalulekileyo kwezi zihlandlo zinzima kukuhlala uqinile.

I- Nonketotic Hyperglycinemia, i-NKH, i-Glycine, izifo zemfuza, izifo zobuntwana, iingxaki ze-neurological, iziphene ze-metabolism