Ngaba umntwana wakho omncinci unale sifo singaqhelekanga? - Masifunde ngeLesch-Nyhan Syndrome

Ngaba umntwana wakho omncinci uzilimaza? Ngaba wakha wambona eluma imilebe yakhe, eluma iminwe yakhe, okanye ebethe intloko yakhe ndaweni ithile? Xa oko kusenzeka, kuyinto eqhelekileyo kuwe, njengomama okanye utata, ukuziva usoyika kwaye ukhathazekile. Namhlanje siza kuthetha ngesimo esibi kangaka, kodwa esingaqhelekanga esibizwa ngokuba yiLesch-Nyhan Syndrome. Ndiyathemba ukuba emva kokufunda oku, uya kufumana ukuqonda okucacileyo ngale nto.

Yintoni iLesch-Nyhan Syndrome? Masiyiqonde ngokulula!

Ngamafutshane, iLesch-Nyhan Syndrome (LNS) yimeko engaqhelekanga kakhulu ebakho xa umntwana ezalwa . Ichaphazela kakhulu ingqondo nokuziphatha komntwana. Njengoko besitshilo ngaphambili, enye yezona mpawu ziphambili nezinzima zesi sifo kukuzilimaza komntwana ngokungalawulekiyo. Oko kuthetha izinto ezifana nokuluma imilebe yakhe, ukuluma iminwe yakhe, okanye ukubethekisa intloko yakhe kwizinto ezifana nodonga. Khawucinge ukuba umntwana omncinci uziva intlungu engakanani xa esenza loo nto.

Esi sifo sibangela amanqanaba aphezulu e-uric acid, imveliso yenkunkuma eyenzeka ngokwemvelo emizimbeni yethu. Abaphandi bacinga ukuba i-LNS ikwachaphazela amanqanaba e-chemical messenger dopamine, ebalulekileyo ekusebenzeni kakuhle kwengqondo.

Abantwana abanale meko, i-LNS, banokuba nesifo samathambo esibuhlungu nesinzima esibizwa ngokuba yi-gout . Basenokuba ne-dystonia kunye nokungakwazi ukujongana nengqondo.

Ngelishwa, akukho nyango lwe-Lesch-Nyhan syndrome. I-prognosis ayilunganga. Nangona kunjalo, ngonyango olufanelekileyo, iimpawu zomntwana wakho zinokulawulwa, iingxaki zinokuncitshiswa, kwaye umgangatho wobomi unokuphuculwa ngandlela ithile.

Ngubani ofumana iLesch-Nyhan Syndrome?

I-Lesch-Nyhan syndrome sisifo esibangelwa kukufa komzimba. Sidla ngokudluliselwa kumama ukuya kunyana. Sinqabile kakhulu kumantombazana.

Nangona kunjalo, ngamanye amaxesha, nokuba akukho mntu kusapho lwakhe wakha waba nesi sifo semfuza ngaphambili, le meko ye-'LNS' inokwenzeka ngenxa yotshintsho olukhawulezileyo '(uguquko)' kwijini ethile '(ijini ye-HPRT1)' ngelixa umntwana ekhula esibelekweni. 'Uvavanyo lwemfuza' lunokufumanisa ukuba umntu ufumene olu tshintsho lwemfuza njengelifa okanye lusandul' ukuphuhliswa.

Ngaba kukho ezinye iimeko ezifana neLesch-Nyhan syndrome (LHS)?

Ewe, kukho ezinye iimeko ezininzi ezibonisa iimpawu ezifanayo 'ne-LNS'. Umzekelo, 'i-autism spectrum disorder' kunye 'ne-cerebral palsy' zombini zineempawu ezifanayo 'ne-LNS'.Ngoko ke, kubaluleke kakhulu ukufumana uxilongo oluchanekileyo ukuze umntwana wakho afumane unyango olufanelekileyo.

Nazi ezinye iimeko ezifana ne-`LNS`:

• I-Cornelia de Lange syndrome - Le yingxaki yophuhliso.
• I-dysautonomia yosapho.
• Isifo seFragile X.
• Ukunqongophala kweglucose 6-phosphate dehydrogenase (G6PD) - Le yimeko yemfuza echaphazela iiseli ezibomvu zegazi.
• `I-neuropathy yeemvakalelo ezidluliselwa kwilifa`.
• Isifo sikaHuntington.
• I-Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Oku kukwakhokelela ekuvelisweni kakhulu kwe-uric acid.
• `Isifo sikaRett`.
• `Isifo seTourette`.

Ngaba kukho iintlobo ezahlukeneyo ze-Lesch-Nyhan syndrome (LHS)?

Uhlobo oluqhelekileyo lwesi sifo, olubizwa ngokuba yiClassic Lesch-Nyhan syndrome (LNS), lubi kakhulu . Lubangela iingxaki zomzimba, zengqondo, nezokuziphatha. Nangona kunjalo, kukho ezinye iintlobo zesifo ezingabalulekanga kangako . Abantwana abanezi ntlobo baneempawu ezimbalwa kakhulu. Kananjalo abanako ukuzilimaza kwaye babe neengxaki zokuhamba.

Ezi ntlobo zithambileyo zezi:

• `Umsebenzi we-neurologic onxulumene ne-HPRT1 (HND)`.
• `I-hyperuricemia enxulumene ne-HPRT1 (i-Kelley–Seegmiller syndrome)` (i-HPRT1-related hyperuricemia - i-Kelley–Seegmiller syndrome) - Olu lolona hlobo luncinci.

Ngawaphi amanye amagama akhoyo e-Lesch-Nyhan syndrome (LHS)?

Esi sifo sikwabizwa nangamanye amagama aliqela. La magama ngala:

• `Isifo sokuzilimaza seChoreoathetosis`
• `Ukunqongophala okupheleleyo kwe-hypoxanthine-guanine phosphoribosyltransferase`
• `I-gout yabantwana`
• `Isifo se-Juvenile hyperuricemia`
• `Isifo sikaKelley-Seegmiller`
• `Isifo sikaLesch Nyhan (LND)`
• `Isifo se-hyperuricemia esiyintloko`
• `Ukusilela okupheleleyo kwe-HPRT`
• `I-hyperuricemia edityaniswe ne-X`

Ixhaphake kangakanani iLesch-Nyhan Syndrome (LHS)?

I-Lesch-Nyhan syndrome yimeko engaqhelekanga kakhulu . Ichaphazela malunga nomntu omnye kubantu abangama-380,000 . Ikwaxhaphake kakhulu nakubafana. Esi sifo saqala ukubonwa ngo-1964.

Yintoni ebangela iLesch-Nyhan Syndrome (LHS)?

Isizathu esiphambili soku kukubaUtshintsho, okanye utshintsho, kwijini ethile ebizwa ngokuba yi-'HPRT1 gene'. Le jini ye-'HPRT1' ivelisa i-enzyme ebaluleke kakhulu ebizwa ngokuba yi-'HPRT'. I-enzyme luhlobo lweproteni olukhawulezisa ukusabela kweekhemikhali (i-metabolism) emzimbeni wethu kwaye lunceda umzimba usebenze.

Khawucinge ngento eyenzekayo xa le enzyme ye-`HPRT` ingasebenzi kakuhle. Kwi-Lesch-Nyhan syndrome, umzimba awukwazi ukusebenzisa iikhemikhali ezibizwa ngokuba yi-`purines` ngokufanelekileyo . Xa ezi purines zingasetyenziswa ngokufanelekileyo, zijika zibe yi-`uric acid`. Le yimveliso engcolileyo egazini lethu.

Ngokwesiqhelo, uninzi lwale 'uric acid' ludlula kwizintso luze lukhutshwe emchameni. Nangona kunjalo, kwi-Lesch-Nyhan syndrome, 'uric acid' (uric acid) iqokelelana emzimbeni ngokugqithisileyo (hyperuricemia) .

Le uric acid igqithisileyo igcinwa njengamatye amancinci, okanye iikristale ze-urate, eluswini, ezandleni nasezinyaweni. Ezi kristale zingonakalisa amalungu kwaye zibangele imeko ebizwa ngokuba yi-gout.

Kwakhona, la matye mancinci anokwakheka kwizintso okanye kwisinyi, athintele ukuhamba komchamo aze abangele iintlungu. Kwezinye iimeko ezinzima, zombini izintso zinokuyeka ukusebenza (ukungasebenzi kakuhle kwezintso).

Zithini iimpawu zeLesch-Nyhan Syndrome (LHS)?

Iimpawu kubantwana abane-Lesch-Nyhan syndrome zichaphazela ubuchule babo bengqondo, iintshukumo, kunye nokuziphatha . Ubuthathaka ekulawuleni izihlunu kunye nokulibaziseka kokukhula ziphakathi kweempawu zokuqala zale meko.

Abanye abantwana banokuba neekristale eziorenji kwiinapukeni zabo ukuba bane-uric acid eninzi emizimbeni yabo. Nangona kunjalo, uninzi lweentsana ezinale meko azibonisi zimpawu zicacileyo de zibe malunga neenyanga ezi-4 ubudala.

Zininzi iimpawu abazali noogqirha abanokuzibona. Masizijonge nganye nganye:

Ukuzilimaza wena nabanye abantu

Ukuzilimaza ngokugqithisileyo luphawu lwe-Lesch-Nyhan syndrome, imeko eyenzeka emva kokuba umntwana eqale ukukhupha amazinyo. Olu hlobo lokuziphatha ludla ngokuquka:

• Ukubetheka entloko okanye emalungeni kwindawo ethile.
• Imilebe elumayo, iminwe, kunye nezidlele.
• Ukuhlaba emehlweni.

Ngamanye amaxesha, abantwana abanale meko bazama ukwenzakalisa abanye. Basenokubathuka ngamazwi, bababambe, bababethe, babalume, okanye babatshicele . Kumele ukuba kuyadabukisa kwaye akuncedi nganto ukuba umama okanye utata akubone oku, akunjalo?

Iingxaki zemisipha kunye nokuhambahamba

Ezinye iimpawu eziqhelekileyo ziingxaki zokulawula izihlunu. Ezi ziquka:

• I-Ballismus kukuhamba okuphindaphindwayo kwezandla okanye iinyawo ngendlela efanayo.
• Ubunzima bokukhasa, ukuhamba, okanye ukutya ngezandla zakho.
• Ubunzima bokuginya (dysphagia).
• I-Hyperreflexia.
• Ukugoba komqolo ngenxa yokuxinana kwemisipha `(opisthotonos)`.
• Iintshukumo ezizenzekelayo (i-dystonia) okanye utshintsho kwimbonakalo yobuso.
• Ukushukuma, ukujija, kunye nokujikajika okungenanjongo (choreoathetosis).
• Iintshukumo zokuxhuzula ngequbuliso (chorea).
• Ukuphazamiseka kwentshukumo ngenxa yokuqina kwemisipha okanye ukuqina kwayo (spasticity).
• Ukungacaci kwamagama okanye intetho ecothayo (i-dysarthria).

Iingxaki zempilo

Abantwana abane-Lesch-Nyhan syndrome banokuba neengxaki ezithile zempilo ngenxa yokuqokelelana kwe-'uric acid' emzimbeni. Ezi ziquka:

• Amatye esinyi.
• Ukungasebenzi kakuhle kwezintso.
• Amatye ezintso.
• Igawuthi.
• I-Megaloblastic anemia ebangelwa kukunqongophala kwe-vitamin B12.
• Ukuhlanza rhoqo.

Iingxaki zokufunda

Abantwana banokuba neengxaki ezifana nezi:

• Ukukhubazeka kokufunda.
• Iingxaki zengqondo ezifana nokulahlekelwa yinkumbulo okanye ukuncipha kwengqwalasela.
• Ubunzima bokucwangcisa izinto ezinzima.

Ifunyanwa njani iLesch-Nyhan Syndrome (LHS)?

Usenokubona iimpawu kumntwana wakho. Okanye, ugqirha unokubona ukuziphatha okungaqhelekanga ngexesha lovavanyo oluqhelekileyo. Ababoneleli bezempilo bafumanisa i-Lesch-Nyhan syndrome ngovavanyo lomzimba .

Baza kubuza nangeempawu zomntwana wakho kunye nembali yempilo yosapho. Baza kukhangela neempawu ezifana nezi:

• Ukulibaziseka kophuhliso.
• Uvavanyo lwegazi okanye lomchamo luya kuqinisekisa ukuba inqanaba le-uric acid yakho liphezulu na.
• Ukuziphatha okuzilimazayo.

Zeziphi ezinye iimvavanyo ezinceda ekuxilongweni?

Ugqirha wakho unokucebisa uvavanyo lwegazi kunye novavanyo lwemfuza ukuqinisekisa ukuxilongwa kunye nokuthintela ezinye iimeko. Uvavanyo lwemfuza lubandakanya ukuthatha isampuli encinci yegazi. Emva kovavanyo lwemfuza, umcebisi wemfuza uza kuthetha nawe malunga neziphumo.

Ukuba kukho umntu kusapho lwakho one-Lesch-Nyhan syndrome, kwaye ukhulelwe, thetha nogqirha wakho ngayo. Ugqirha wakho unokucebisa uvavanyo lokukhulelwa ngaphambi kokuzalwa, ingakumbi ukuba uyazi ukuba umntwana wakho ungumfana. Olu vavanyo lokukhulelwa ngaphambi kokuzalwa lungabandakanya:

• I-Amniocentesis.
• Ukuthathwa kwesampuli ye-Chorionic villus.

Ngaba ikho indlela yokunyanga iLesch-Nyhan Syndrome (LHS)?

Ngelishwa, akukho nyango lwe-Lesch-Nyhan syndrome, kwaye iindlela zonyango zinqongophele. Nangona kunjalo, ababoneleli bezempilo banokukunceda wena nomntwana wakho nilawule iimpawu kwaye nifumane ubomi obungcono.

Ngubani oza kuba kwiqela lonyango lweLesch-Nyhan Syndrome (LHS) lomntwana wam?

Ukuba umntwana wakho une-Lesch-Nyhan syndrome, iqela leengcali ezahlukeneyo kunye nabasebenzi bezempilo baya kugqiba ngeempawu ezahlukeneyo. Eli qela lingaquka:

• Ingcali yemfuza.
• Ingcali yezintso (i-nephrologist).
• Ingcali yezifo zengqondo.
• Ingcali yezonyango emsebenzini.
• Ugqirha wezingane.
• Ingcali yezonyango zomzimba.
• Umsebenzi wentlalontle.
• Ingcali yezifo zolwimi lokuthetha.
• Ugqirha ochwephesha kwinkqubo yomchamo (urologist).

Inyangwa njani iLesch-Nyhan Syndrome (LHS)?

Unyango lwe-Lesch-Nyhan syndrome luxhomekeke kwiimpawu zomntwana wakho kunye nobunzima bazo.

Iintsana ezisandul’ ukuzalwa kunye nabantwana abancinci banokufuna ulwalathiso olongezelelekileyo kunye nenkxaso engakumbi ekondleni .

Umboneleli wakho wezempilo unokucebisa izinto ezifana nezi:

• Amayeza okulawula amanqanaba aphezulu e-uric acid okanye ukunciphisa iingxaki zokuziphatha.
• Uncedo ngokutya okanye ngokuginya.
• Izixhobo zokuncedisa, ezifana nesitulo esinamavili, ukuze kube lula ukuhambahamba.
• Unyango lomzimba kunye nonyango lomsebenzi.
• Izixhobo zokuzikhusela ezifana ne-splint okanye i-mouthguard ukuthintela iintshukumo ezizenzekelayo njengokuluma iminwe.
• Iinkqubo ezifana ne-shockwave lithotripsy okanye i-laser lithotripsy zokuqhekeza amatye ezintso okanye esinyini.

Ndingawunciphisa na umngcipheko womntwana wam wokuba neLesch-Nyhan Syndrome (LHS)?

Enyanisweni, akukho ndlela yokuthintela i-Lesch-Nyhan syndrome. Ibangelwa lutshintsho lwezakhi zofuzo (iinguqu) ezenzeka ngelixa umntwana ekhula esibelekweni. Akukho nto uyenzayo enokubangela esi sifo. Khumbula oko. Kwezinye iimeko, uvavanyo lokukhulelwa lunokwenziwa ukuze kufunyanwe utshintsho lwezakhi zofuzo.

Iyintoni imbono yomntwana one-Lesch-Nyhan syndrome (LHS)?

Imbono yabantwana abane-Lesch-Nyhan syndrome idla ngokuba mbi . Ngokuqhelekileyo abakwazi ukuhamba kwaye bafuna isitulo esinamavili. Uninzi lwabo luphila ubomi obufutshane . Ngenxa yeengxaki zesi sifo, kunqabile ukuba abantu baphile ngaphaya kweminyaka engama-20. Nangona kunjalo, iqela lonyango linokukunceda wena nomntwana wakho nilawule iimpawu kwaye lincede umntwana wakho ahlale ekhululekile kwaye ekhuthele kangangoko kunokwenzeka.

Ndifanele ndifune nini ingcebiso kagqirha kumntwana wam?

Kubalulekile ukuqaphela i-Lesch-Nyhan syndrome kwangethuba . Ababoneleli ngeenkonzo zempilo banokukunika wena nomntwana wakho inkxaso eqhubekayo kunye nokuphelisa iimpawu. Ugqirha wakho uza kusebenza nawe ukuze enze isicwangciso sonyango sihambelane neemfuno zomntwana wakho ezitshintshayo.Yenza isicwangciso sokhathalelo olulungiselelwe wena.

Abazali abaninzi baziva bothukile kakhulu kwaye bengenakunceda emva kokuba befunyaniswe bene-Lesch-Nyhan syndrome. Kuyaqondakala ukuba esi sisifo esingaqhelekanga semfuza esingenakunyangeka. Nangona kunjalo, ukufunyanwa kwangethuba kunye nonyango kunokuphucula kakhulu umgangatho wobomi bomntwana. Thetha nogqirha wakho malunga nonyango olusebenzayo olunokwenza umahluko njengoko umntwana wakho ekhula.

Okokugqibela, umyalezo oya ekhaya

Kulungile, ngoko ke ngokwento esithethe ngayo, ndiyathemba ukuba ufumene ulwazi oluthile ngeLesch-Nyhan Syndrome. Le yimeko engaqhelekanga kakhulu, kwaye inzima kakhulu kumntwana nakusapho.

• Esi sisifo semfuza: sidla ngokudluliselwa kumama ukuya kunyana, okanye sinokubangelwa kukuguquka kwemfuza okutsha.
• Uphawu oluphambili kukuzilimaza: lukwabangela iingxaki zemisipha, iimeko ezifana ne-gout, kunye nokukhubazeka kokufunda.
• Akukho nyango, kodwa iimpawu zinokulawulwa: ngonyango olwahlukeneyo kunye nenkxaso yeqela loogqirha abaziingcali, singazama ukwenza ubomi bomntwana bube mnandi kangangoko.
• Ukuxilongwa kwangoko kubaluleke kakhulu: Ukuba ubona iimpawu, funa ingcebiso kagqirha ngoko nangoko.
• Awuwedwa: Kunokuba nzima ukuhlala uqinile engqondweni kwimeko efana nale. Nangona kunjalo, funa inkxaso koogqirha, abacebisi kunye nabantu obathandayo.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba umntwana wakho unezinye zezi mpawu, nceda ubone ugqirha ofanelekileyo ngokukhawuleza.

Isifo sikaLesch-Nyhan, i-LNS, i-HPRT1 gene, i-uric acid, i-gout, ukuzenzakalisa, isifo semfuza, abantwana, izifo zemfuza, i-uric acid