Ingabe ingane yakho encane inalesi sifo esingavamile? - Ake sifunde nge-Lesch-Nyhan Syndrome

Ingabe ingane yakho izilimaza? Wake wambona eluma izindebe zakhe, eluma iminwe yakhe, noma eshaya ikhanda lakhe ndawana thize? Uma lokho kwenzeka, kuyinto evamile ngawe, njengomama noma ubaba, ukuzizwa wesaba kakhulu futhi ukhathazekile. Namuhla sizokhuluma ngesimo esibi kangaka, kodwa esingavamile kakhulu esibizwa ngokuthi i-Lesch-Nyhan Syndrome. Ngiyethemba ukuthi ngemva kokufunda lokhu, uzothola ukuqonda okucacile ngalokhu.

Iyini i-Lesch-Nyhan Syndrome? Masiyiqonde kalula!

Kalula nje, i-Lesch-Nyhan Syndrome (LNS) yisimo esingavamile kakhulu esiba khona lapho kuzalwa . Sithinta kakhulu ubuchopho bomntwana kanye nokuziphatha kwakhe. Njengoba sishilo ngaphambili, esinye sezimpawu eziyinhloko nezinzima kakhulu zalesi sifo ukuzilimaza kwengane okungalawuleki. Lokho kusho izinto ezifana nokuluma izindebe zakhe, ukuluma iminwe yakhe, noma ukushayisa ikhanda lakhe ezintweni ezifana nodonga. Cabanga ukuthi ingane encane kumelwe izizwe ubuhlungu obungakanani lapho yenza lokho.

Lesi sifo sibangela amazinga aphezulu e-uric acid, umkhiqizo ongcolile owenzeka ngokwemvelo emizimbeni yethu. Abacwaningi basola ukuthi i-LNS ithinta namazinga e-chemical messenger dopamine, ebalulekile ekusebenzeni kahle kobuchopho.

Izingane ezinalesi simo, i-LNS, zingaba nesifo samathambo esibuhlungu nesinzima esibizwa ngokuthi i-gout . Zingase zibe ne-dystonia kanye nokukhubazeka kwengqondo.

Ngeshwa, ayikho ikhambi le-Lesch-Nyhan syndrome. Ukubikezela akukuhle. Kodwa-ke, ngokwelashwa okufanele, izimpawu zengane yakho zingalawulwa, izinkinga zingancishiswa, futhi ikhwalithi yokuphila ingathuthukiswa ngezinga elithile.

Ubani othola i-Lesch-Nyhan Syndrome?

I-Lesch-Nyhan syndrome iyisifo esidluliselwa ngofuzo se-metabolic. Ngokuvamile sidluliselwa kusuka kumama kuya endodaneni. Singavamile kakhulu emantombazaneni.

Kodwa-ke, ngezinye izikhathi, noma ngabe akekho emndenini oke waba nalesi sifo sofuzo ngaphambili, lesi simo se-'LNS' singase senzeke ngenxa yokushintsha okungazelelwe '(ukuguqulwa)' ku-gene ethile '(i-HPRT1 gene)' ngenkathi ingane ikhula esibelethweni. 'Ukuhlolwa kofuzo' kungathola ukuthi umuntu unalo yini lolu shintsho lofuzo oluzuzwe njengefa noma lusanda kwakheka.

Ingabe zikhona ezinye izimo ezifana ne-Lesch-Nyhan syndrome (LHS)?

Yebo, empeleni kunezinye izimo eziningana ezibonisa izimpawu ezifanayo ne-'LNS'. Isibonelo, 'i-autism spectrum disorder' kanye ne-'cerebral palsy' zombili zinezimpawu ezifanayo ne-'LNS'.Ngakho-ke, kubaluleke kakhulu ukuthola ukuxilongwa okunembile ukuze ingane yakho ithole ukwelashwa okufanele.

Nazi ezinye izimo ezifana ne-`LNS`:

• I-Cornelia de Lange syndrome - Lokhu futhi kuyisifo sokuthuthukiswa.
• I-dysautonomia yomndeni.
• Isifo se-Fragile X.
• Ukuntuleka kwe-glucose 6-phosphate dehydrogenase (G6PD) - Lesi yisimo sofuzo esithinta amangqamuzana abomvu egazi.
• `I-neuropathic yezinzwa ezuzwe njengefa`.
• Isifo sikaHuntington.
• I-Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Lokhu kuholela nasekukhiqizweni ngokweqile kwe-uric acid.
• 'Isifo sikaRett'.
• 'I-Tourette syndrome'.

Ingabe kunezinhlobo ezahlukene ze-Lesch-Nyhan syndrome (LHS)?

Uhlobo oluvame kakhulu lwalesi sifo, olubizwa ngokuthi i-Classic Lesch-Nyhan syndrome (LNS), lubi kakhulu . Lubangela izinkinga zomzimba, zengqondo, nezokuziphatha. Kodwa-ke, kunezinye izinhlobo ezincane zalesi sifo. Izingane ezinalezi zinhlobo zinezimpawu ezimbalwa kakhulu. Futhi azivamile ukuzilimaza futhi zibe nezinkinga zokunyakaza.

Izinhlobo ezinjalo ezithambile yilezi:

• `Umsebenzi wezinzwa ohlobene ne-HPRT1 (i-HND)`.
• `I-hyperuricemia ehlobene ne-HPRT1 (i-Kelley–Seegmiller syndrome)` (i-hyperuricemia ehlobene ne-HPRT1 - i-Kelley–Seegmiller syndrome) - Lolu uhlobo oluthambile kakhulu.

Yimaphi amanye amagama akhona e-Lesch-Nyhan syndrome (LHS)?

Lesi sifo saziwa nangamanye amagama amaningana. Lawa:

• `I-Choreoathetosis self-cutilation syndrome`
• `Ukuntuleka okuphelele kwe-hypoxanthine-guanine phosphoribosyltransferase`
• `I-gout yentsha`
• 'I-Juvenile hyperuricemia syndrome'
• `Isifo sikaKelley-Seegmiller`
• `Isifo sikaLesch Nyhan (LND)`
• `I-Primary hyperuricemia syndrome`
• `Ukuntuleka okuphelele kwe-HPRT`
• `I-hyperuricemia exhumene no-X`

Ivame kangakanani i-Lesch-Nyhan Syndrome (LHS)?

I-Lesch-Nyhan syndrome iyisimo esingavamile kakhulu . Sithinta cishe umuntu oyedwa kubantu abangu-380,000 . Sivame kakhulu nakubafana. Lesi sifo saqala ukutholakala ngo-1964.

Yini ebangela i-Lesch-Nyhan Syndrome (LHS)?

Isizathu esiyinhloko salokhuUshintsho, noma ukuguquka kwezakhi zofuzo ezithile ezibizwa ngokuthi i-'HPRT1 gene'. Le gene ye-'HPRT1' ikhiqiza i-enzyme ebaluleke kakhulu ebizwa ngokuthi i-'HPRT'. I-enzyme uhlobo lweprotheni olusheshisa ukusabela kwamakhemikhali (i-metabolism) emzimbeni wethu futhi lusize umzimba usebenze kahle.

Cabanga ukuthi kwenzekani uma le enzyme ethi ‘HPRT’ ingasebenzi kahle. Ku-Lesch-Nyhan syndrome, umzimba awukwazi ukusebenzisa amakhemikhali abizwa ngokuthi ‘ama-purines’ ngendlela efanele . Uma lawa ma-purines engasetshenziswa kahle, aphenduka ‘i-uric acid’. Lokhu kuwumkhiqizo ongcolile egazini lethu.

Ngokuvamile, iningi lale 'uric acid' lidlula ezinso bese likhishwa emchameni. Kodwa-ke, ku-Lesch-Nyhan syndrome, i-'uric acid' (uric acid) iqongelela emzimbeni ngokweqile (hyperuricemia) .

Le uric acid eningi isala njengamatshe amancane, noma amakristalu e-urate, esikhumbeni, ezandleni nasezinyaweni. La makristalu angalimaza amalunga futhi abangele isimo esibizwa ngokuthi i-gout.

Futhi, la matshe amancane angakheka ezinso noma esinyeni, avimbele ukugeleza komchamo futhi abangele ubuhlungu. Kwezinye izimo ezinzima, zombili izinso zingase ziyeke ukusebenza (ukwehluleka kwezinso).

Ziyini izimpawu ze-Lesch-Nyhan Syndrome (LHS)?

Izimpawu ezinganeni ezine-Lesch-Nyhan syndrome zithinta amakhono azo engqondo, ukunyakaza, kanye nokuziphatha . Ubuthakathaka ekulawuleni imisipha kanye nokubambezeleka kokukhula kuphakathi kwezimpawu zokuqala zalesi simo.

Ezinye izingane zingase zibe namakristalu e-orange kuma-napkin azo uma zine-uric acid eningi kakhulu emizimbeni yazo. Kodwa-ke, izingane eziningi ezinalesi simo azibonisi zimpawu ezisobala kuze kube yilapho sezinezinyanga ezi-4 ubudala.

Kunezimpawu eziningi abazali nodokotela abangazibona. Ake sizibheke ngasinye ngasinye:

Ukuzilimaza wena nabanye

Ukuzilimaza okuphoqelekile kuyisici esibalulekile se-Lesch-Nyhan syndrome, isimo esenzeka ngemva kokuba ingane iqale ukuzala amazinyo. Lokhu kuziphatha kuvame ukuhlanganisa:

• Ukushaya ikhanda noma imilenze endaweni ethile.
• Izindebe ezilumayo, iminwe, kanye nezihlathi.
• Ukuhlaba emehlweni.

Ngezinye izikhathi, izingane ezinalesi simo zizama ukulimaza abanye. Zingase zihlukumeze abanye ngamazwi, zibabambe, zibashaye, zibalume, noma zibakhafulele . Kumelwe ukuba kuyadabukisa futhi akusizi ngalutho ngomama noma ubaba ukubona lokhu, akunjalo?

Izinkinga zemisipha nokunyakaza

Ezinye izimpawu ezivamile izinkinga zokulawula imisipha. Lezi zifaka:

• I-Ballismus ukunyakaza okuphindaphindiwe kwezandla noma izinyawo ngendlela efanayo.
• Ubunzima bokukhasa, ukuhamba, noma ukudla ngezandla zakho.
• Ubunzima bokugwinya (i-dysphagia).
• I-Hyperreflexia.
• Ukugoba komgogodla ngenxa yokufinyela kwemisipha `(opisthotonos)`.
• Ukunyakaza okungahleliwe (i-dystonia) noma izinguquko ekubonakaleni kobuso.
• Ukunyakaza okungathi sína, ukujikijela, kanye nokugoqana (i-choreoathetosis).
• Ukunyakaza okungazelelwe kokugxumagxuma (i-chorea).
• Ukunyakaza okungahambi kahle ngenxa yokuqina kwemisipha noma ukuqina kwayo (ukungakhululeki).
• Ukungakhulumi kahle noma ukukhuluma kancane (i-dysarthria).

Izinkinga zempilo

Izingane ezine-Lesch-Nyhan syndrome zingase zibe nezinkinga ezithile zempilo ngenxa yokuqongelela kwe-'uric acid' emzimbeni. Lokhu kufaka phakathi:

• Amatshe esinyini.
• Ukwehluleka kwezinso.
• Amatshe ezinso.
• I-Gout.
• I-Megaloblastic anemia ebangelwa ukuntuleka kwe-vitamin B12.
• Ukuhlanza njalo.

Izinkinga zokufunda

Izingane zingase zibe nezinkinga ezifana nalezi:

• Ukukhubazeka kokufunda.
• Izinkinga zengqondo ezifana nokulahlekelwa yinkumbulo noma ukuncipha kokunaka.
• Ubunzima bokuhlela izinto eziyinkimbinkimbi.

Itholakala kanjani i-Lesch-Nyhan Syndrome (LHS)?

Ungase uqaphele izimpawu enganeni yakho. Noma, udokotela angase aqaphele ukuziphatha okungajwayelekile ngesikhathi sokuhlolwa okuvamile. Abahlinzeki bezempilo baxilonga i-Lesch-Nyhan syndrome ngokuhlolwa ngokomzimba .

Bazobuza nangezimpawu zengane yakho kanye nomlando wezokwelapha womndeni. Bazobheka nezimpawu ezifana nalezi:

• Ukulibaziseka kokukhula.
• Ukuhlolwa kwegazi noma komchamo kuzonquma ukuthi izinga le-uric acid yakho liphakeme yini.
• Ukuziphatha okuzilimazayo.

Yiziphi ezinye izivivinyo ezisiza ekuxilongweni?

Udokotela wakho angase akuncome ukuhlolwa kwegazi nokuhlolwa kwezakhi zofuzo ukuqinisekisa ukuxilongwa nokukhipha ezinye izimo. Ukuhlolwa kwezakhi zofuzo kuhilela ukuthatha isampula encane yegazi. Ngemva kokuhlolwa kwezakhi zofuzo, umeluleki wezakhi zofuzo uzokhuluma nawe ngemiphumela.

Uma othile emndenini wakho ene-Lesch-Nyhan syndrome, futhi ukhulelwe, khuluma nodokotela wakho ngakho. Udokotela wakho angase akuncome ukuhlolwa kokukhulelwa, ikakhulukazi uma wazi ukuthi ingane yakho ingumfana. Lokhu kuhlolwa kokukhulelwa kungafaka:

• I-Amniocentesis.
• Ukuthatha isampula ye-Chorionic villus.

Ingabe ikhona ikhambi le-Lesch-Nyhan Syndrome (LHS)?

Ngeshwa, ayikho ikhambi le-Lesch-Nyhan syndrome, futhi izinketho zokwelapha zilinganiselwe. Kodwa-ke, abahlinzeki bezempilo bangakusiza wena nengane yakho ukuthi niphathe izimpawu futhi nifinyelele izinga lempilo elingcono.

Obani abazoba seqenjini lokwelapha i-Lesch-Nyhan Syndrome (LHS) yengane yami?

Uma ingane yakho ine-Lesch-Nyhan syndrome, ithimba lochwepheshe abahlukene kanye nabasebenzi bezempilo bavame ukumboza zonke izimpawu. Leli qembu lingafaka:

• Isazi sezakhi zofuzo.
• Uchwepheshe wezinso (udokotela wezinso).
• Udokotela wezinzwa.
• Uchwepheshe wezokwelapha emsebenzini.
• Udokotela wezingane.
• Uchwepheshe wezokwelapha ngokomzimba.
• Isisebenzi sezenhlalakahle.
• Isazi sezifo zolimi lokukhuluma.
• Udokotela ochwepheshe ohlelweni lomchamo (udokotela wezifo zomchamo).

Iphathwa kanjani i-Lesch-Nyhan Syndrome (LHS)?

Ukwelashwa kwe-Lesch-Nyhan syndrome kuncike ezimpawini zengane yakho kanye nobunzima bazo.

Izinsana nezingane ezincane zingadinga ukugadwa okwengeziwe kanye nokusekelwa ngokudla .

Umhlinzeki wakho wezempilo angancoma izinto ezifana nalezi:

• Imithi yokulawula amazinga aphezulu e-uric acid noma yokuqeda izinkinga zokuziphatha.
• Usizo ngokuncelisa noma ngokugwinya.
• Amadivayisi okusiza, njengesihlalo sabakhubazekile, ukuze kube lula ukunyakaza.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi.
• Amadivayisi okuvikela njenge-splint noma i-mouthguard ukuvimbela ukunyakaza okungahleliwe njengokuluma iminwe.
• Izinqubo ezifana ne-shockwave lithotripsy noma i-laser lithotripsy zokuphula amatshe ezinso noma esinyeni.

Ngingayinciphisa yini ingozi yengane yami yokuthola i-Lesch-Nyhan Syndrome (LHS)?

Eqinisweni, ayikho indlela yokuvimbela i-Lesch-Nyhan syndrome. Ibangelwa izinguquko zofuzo (ukuguqulwa kwezakhi zofuzo) ezenzeka ngesikhathi umntwana ekhula esibelethweni. Akukho okwenzayo okungadala lesi sifo. Khumbula lokho. Kwezinye izimo, ukuhlolwa kokukhulelwa kungenziwa ukuze kutholakale ukuguquka kwezakhi zofuzo.

Iyini inhloso yengane ene-Lesch-Nyhan syndrome (LHS)?

Umbono wezingane ezine-Lesch-Nyhan syndrome ngokuvamile mubi . Ngokuvamile azikwazi ukuhamba futhi zidinga isihlalo sabakhubazekile. Eziningi zinesikhathi esifushane sokuphila . Ngenxa yezinkinga zalesi sifo, akuvamile ukuthi abantu baphile iminyaka engaphezu kwengu-20. Kodwa-ke, ithimba lokwelapha lingakusiza wena nengane yakho ukuthi niphathe izimpawu futhi lisize ingane yakho ukuthi ihlale ikhululekile futhi ikhuthele ngangokunokwenzeka.

Kufanele ngifune nini iseluleko sezokwelapha sengane yami?

Kubalulekile ukuqaphela i-Lesch-Nyhan syndrome kusenesikhathi . Abahlinzeki bezempilo bangakunikeza wena nengane yakho ukwesekwa okuqhubekayo kanye nokukhululeka ezimpawini. Udokotela wakho uzosebenza nawe ukuze ahlele uhlelo lokwelashwa oluhambisana nezidingo zengane yakho ezishintshayo.Udala uhlelo lokunakekelwa komuntu siqu.

Abazali abaningi bazizwa beshaqekile kakhulu futhi bengenalusizo ngemva kokuthola ukuthi bane-Lesch-Nyhan syndrome. Kuyaqondakala ukuthi lesi yisifo esingavamile esibangelwa izakhi zofuzo esingenalo ikhambi laso. Kodwa-ke, ukutholakala kusenesikhathi kanye nokwelashwa kungathuthukisa kakhulu ikhwalithi yokuphila kwengane. Khuluma nodokotela wakho mayelana nokwelashwa okuphumelelayo okungenza umehluko njengoba ingane yakho ikhula.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Kulungile, ngakho-ke kulokho esikhulume ngakho, ngithemba ukuthi uthole ukuqonda okuthile nge-Lesch-Nyhan Syndrome. Lesi yisimo esingavamile kakhulu, futhi esiyinselele kakhulu enganeni nasemndenini.

• Lesi yisifo esibangelwa izakhi zofuzo: sivame ukudluliselwa kusuka kumama kuya endodaneni, noma singabangelwa ukuguquka kwezakhi zofuzo okusha.
• Uphawu oluyinhloko ukuzilimaza: futhi kubangela izinkinga zemisipha, izimo ezifana ne-gout, kanye nokukhubazeka kokufunda.
• Akukho ukwelashwa, kodwa izimpawu zingalawulwa: ngokwelashwa okuhlukahlukene kanye nokusekelwa yithimba lodokotela abangochwepheshe, singazama ukwenza impilo yengane ibe ntofontofo ngangokunokwenzeka.
• Ukuxilongwa kusenesikhathi kubaluleke kakhulu: Uma ubona izimpawu, funa iseluleko sezokwelapha ngokushesha.
• Awuwedwa: Kungaba nzima ukuhlala uqinile engqondweni esimweni esinjengalesi. Kodwa-ke, funa ukwesekwa kodokotela, abeluleki kanye nabathandekayo.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma ingane yakho inanoma yiziphi zalezi zimpawu, sicela ubone udokotela ofanelekayo ngokushesha okukhulu.

I- Lesch-Nyhan Syndrome, i-LNS, i-HPRT1 gene, i-uric acid, i-gout, ukuzilimaza, ukuphazamiseka kwezakhi zofuzo, izingane, izifo zezakhi zofuzo, i-uric acid