I fate hian he natna mak tak hi a nei em? - Lesch-Nyhan Syndrome chungchang hi i zir dawn nia

I naupang tê hian a inhliam em? A hmui a seh emaw, a kut zungtang a seh emaw, khawi emaw laiah a lu a beng tih i hmu ngai em? Chutiang a lo thlen chuan nu emaw pa emaw angin hlauhna leh lungkhamna nasa tak i neih hi thil pangngai a ni. Vawiin hian hetiang natna khirh tak, mahse hmuh tur awm lo tak, Lesch-Nyhan Syndrome tih hi kan sawi dawn a ni. He thu hi i chhiar zawh hnuah hemi chungchang hi chiang takin i hrethiam ngei ka beisei.

Lesch-Nyhan Syndrome hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin sawi ila, Lesch-Nyhan Syndrome (LNS) hi natna hlauhawm tak a ni a, nau piang laiin a awm thin . Naupang thluak leh nungchang a nghawng ber a ni. A hmaa kan sawi tawh ang khan he natna lan chhuah dan ber leh na ber pakhat chu naupangin thunun theih loha mahni intihhlimna hi a ni. Chu chu an hmui seh te, an kut zungtang seh te, bang ang chi thila an lu vuak te ang chi thil tihna a ni. Chutianga an tih huna naupang tê têin hrehawm a tawrh tûr chu han ngaihtuah teh.

He natna hian kan taksaa bawlhhlawh awm , pianphung atanga lo chhuak uric acid level a tisang a ni. Researcher-te chuan LNS hian thluak hrisel taka hnathawhna atana pawimawh, chemical messenger dopamine level pawh a nghawng niin an ring.

Hetiang natna, LNS nei naupangte hian ruh natna na tak, na tak, gout , an nei thei a ni. Dystonia leh mental retardation an nei thei bawk.

Vanduaithlak takin Lesch-Nyhan syndrome hi damdawi a la awm lo . Prognosis a tha lo hle. Amaherawhchu, inenkawlna \ha tak a awm chuan i fate natna lan chhuah dan chu thunun theih a ni a, harsatna awmte chu a tlahniam thei a, nunphung pawh eng emaw chen a \ha thei bawk.

Lesch-Nyhan Syndrome hi tuin nge vei?

Lesch-Nyhan syndrome hi inherited metabolic disorder a ni a, a natna hi a pianphung atanga lo chhuak a ni. Nu atanga fapaah a kai darh tlangpui. Hmeichhiaah a tlem hle.

Mahse, a chang chuan chhungkaw zingah hian he genetic disease hi tu mahin an la nei lo a nih pawhin, nausen pum chhunga a lo seilian laiin gene bik `(HPRT1 gene)`-a `(mutation)` inthlak danglam nghal vang pawh hian he `LNS` dinhmun hi a lo awm thei bawk. `Genetic testing` hmangin mi pakhatin he gene mutation hi a rochun em tih emaw, a lo piang thar em tih emaw hriat theih a ni.

Lesch-Nyhan syndrome (LHS) ang chi natna dang a awm em?

Ni e, a takah chuan `LNS` ang chiah hian natna dang engemaw zat a awm bawk. Entirnan, `autism spectrum disorder` leh `cerebral palsy` te hian `LNS` nen hian symptom inang an nei vek a.Chuvangin, i fain enkawlna dik a dawn theih nan diagnosis dik tak neih a pawimawh hle.

`LNS` nena inmil condition dang thenkhat chu hetiang hi a ni:

• Cornelia de Lange syndrome - Hei hi hmasawnna lama harsatna a ni bawk.
• Chhungkaw lama harsatna (dysautonomia) a awm.
• Fragile X syndrome a ni.
• Glucose 6-phosphate dehydrogenase (G6PD) tlakchhamna - Hei hi genetic condition a ni a, thisen sen (red blood cells) a nghawng a ni.
• `Hereditary sensory neuropathy atanga lo chhuak`.
• Huntington natna a ni.
• Phosphoribosyl pyrophosphate (PRPP) synthetase hyperactivity - Hei hian uric acid siam tam lutuk a thlen bawk.
• `Rett syndrome` tih a ni.
• `Tourette syndrome` tih a ni.

Lesch-Nyhan syndrome (LHS) hi chi hrang hrang a awm em?

Natna chi khat, Classic Lesch-Nyhan syndrome (LNS) tia koh chu a na hle a ni . Taksa, rilru leh nungchang lama harsatna a thlen thin. Mahse, natna chi dang, a na lo zawk a awm bawk . Hetiang chi naupangte hian symptom an nei tlem hle. Tin, mahni inhriatthiam lohna leh chetna lama harsatna nei an tlem hle bawk.

Chutiang soft type chu:

• `HPRT1 nena inzawm neurologic function (HND)`.
• `HPRT1-related hyperuricemia (Kelley–Seegmiller syndrome)` (HPRT1-related hyperuricemia - Kelley–Seegmiller syndrome) - Hei hi a nasat ber chi a ni.

Lesch-Nyhan syndrome (LHS) tih hming dang eng nge awm?

He natna hi hming dang engemaw zatin an sawi bawk. Anni chu:

• `Choreoathetosis mahni intihhlum theihna syndrome`
• `Hypoxanthine-guanine phosphoribosyltransferase tlakchhamna famkim`
• `Juvenile gout` tih a ni
• `Juvenile hyperuricemia syndrome` tih a ni
• `Kelley-Seegmiller natna` tih a ni
• `Lesch Nyhan natna (LND)`
• `Primary hyperuricemia syndrome` tih a ni
• `HPRT tlakchhamna zawng zawng`
• `X-a inzawm hyperuricemia` tih a ni

Lesch-Nyhan Syndrome (LHS) hi engtiang chiahin nge a hluar?

Lesch-Nyhan syndrome hi a awm lo hle a ni . Mi 380,000 zinga pakhat velin a nghawng a ni . Mipa naupangah pawh a tam zawk. He syndrome hi kum 1964 khan hmuhchhuah a ni.

Eng thilin nge Lesch-Nyhan Syndrome (LHS) hi a thlen?

Hei hi a chhan ber chuGene bik pakhat `HPRT1 gene` an tih a inthlak danglamna, a nih loh leh mutation. He `HPRT1` gene hian enzyme pawimawh tak `HPRT` tih a siam chhuak a. Enzyme hi protein chi khat a ni a, kan taksaa chemical reaction (metabolism) ti chaktu leh taksa hnathawhna atana puitu a ni.

He `HPRT` enzyme hian hna a thawk tha lo a nih chuan eng nge thleng tih han ngaihtuah teh. Lesch-Nyhan syndrome ah hian taksa hian chemical `purines` tih te hi a hmang dik thei lo . Heng purines te hi hman dik loh chuan `uric acid` ah an chang thin. Hei hi kan thisenah bawlhhlawh a ni.

A tlangpuiin he `uric acid` hi a tam zawk hi kal (kidney) kaltlangin a chhuak a, zun-ah a chhuak thin. Mahse, Lesch-Nyhan syndrome-ah chuan `uric acid` (uric acid) chu taksaah a tam lutuk (hyperuricemia) .

He uric acid tam lutuk hi lung te tak te, a nih loh leh urate crystal angin vun, kut leh keah a awm a. Heng crystal te hian ruhkawr a tichhia a, gout an tih natna a thlen thei bawk.

Tin, heng lung te te hi kal emaw, zun emaw-ah emaw a lo awm thei a, zun kalna tur a tikhawlo thei a, natna a thlen thei bawk. A nasat deuhah chuan kal pahnih hian hna an thawk tawh lo thei (renal failure).

Lesch-Nyhan Syndrome (LHS) natna lan chhuah dante chu engte nge ni?

Lesch-Nyhan syndrome vei naupangte symptoms hian an rilru chakna, an chezia leh an nungchang a nghawng a ni . Muscle control lama chak lohna leh hmasawnna tlai te hi he natna lan chhuah hmasak ber zinga mi a ni.

Naute thenkhat chuan an taksaah uric acid a tam lutuk chuan an diaper-ah orange crystal an nei thei. Mahse, he natna vei naute tam zawk hian thla 4 vel an tlin hma chuan natna lanchhuahna langsar tak tak an nei lo.

Nu leh pa leh Doctor ten an hmuh theih tur symptom tam tak a awm a. Pakhat hnu pakhatin han thlir ila:

Mahni leh midangte tihnat

Compulsive self-injury hi Lesch-Nyhan syndrome chhinchhiahna a ni a, naupang ha a chhuah tan hnua lo awm thin a ni. Hetiang thiltih hian a tlangpuiin:

• Khawi emaw laiah i lu emaw i ke leh ke emaw i vuak.
• hmui, kut zungtang leh hmui seh.
• Mit ah a stinging.

A châng chuan, hetiang natna nei naupangte hian mi dangte tihchhiat an tum ṭhin. Mi dangte chu ṭawngkam hmangin an sawichhia thei a, an man thei a, an vuak thei a, an seh thei a, a nih loh leh an chil chhak thei bawk . Hei hi nu emaw pa emaw tan chuan a lungchhiatthlak em em a, tanpui theih loh a ni ngei ang, a dik em?

Muscle leh movement lama harsatna nei

A lan chhuah dan tlangpui dangte chu taksa ruh (muscle control) lama harsatna awmte hi a ni. Chung zingah chuan:

• Ballismus chu kut emaw ke emaw, chutiang bawka inher nawn lehna a ni.
• Kut hmanga tlan, kal, emaw ei harsa.
• Chaw ei harsa (dysphagia).
• Hyperreflexia tih hi a ni.
• Muscle contraction avanga ruhro bowing `(opisthotonos)`.
• Duh loh vanga chetna (dystonia) emaw, hmel lan dan inthlak danglam emaw.
• A duh loh zawnga jerking, twisting, leh writhing movement (choreoathetosis) te.
• A rilru a buai em em a, a rilru a hah em em bawk a.
• Muscle stiffness emaw rigidity (spasticity) avanga chetna tha lo.
• Thusawi hrual emaw, thusawi slow (dysarthria) emaw.

Hriselna lama harsatna a awm

Lesch-Nyhan syndrome nei naupangte hian taksaa `uric acid` a punkhawm avangin hriselna lama harsatna engemaw zat an nei thei a ni. Chung zingah chuan:

• Bladder lung a awm.
• Kidney tha lo a awm.
• Kidney-ah lung a awm.
• Gout tih hi a ni.
• Megaloblastic anemia hi vitamin B12 tlakchham vang a ni.
• Luak chhuak fo thin.

Zirna lama harsatna a awm

Naupangte pawhin harsatna an nei thei a, chungte chu:

• Zirna lama harsatna nei te.
• Rilru lama harsatna, hriatrengna hloh emaw, ngaihvenna tlahniam emaw.
• Thil buaithlak tak tak ruahmanna siam harsa.

Engtin nge Lesch-Nyhan Syndrome (LHS) hi hmuhchhuah a nih?

I faah hian symptoms i hmu thei. A nih loh leh, doctor chuan routine exam neih laiin thiltih danglam tak a hmu thei bawk. Hriselna lama thawktute chuan taksa enfiahna hmangin Lesch-Nyhan syndrome an hmuchhuak .

I fa natna lan chhuah dan leh chhungkaw medical history te pawh an zawt ang. Tin, chhinchhiahna te pawh an zawng ang:

• Hmasawnna lama tlai lutuk.
• Thisen emaw zun emaw test hian i uric acid level a sang em tih a hriat theih.
• Mahni intihhlum tumna.

Eng test dang nge natna hriat theihna tura puitu?

I doctor chuan thisen test leh genetic test neih a rawt thei a, chu chuan i natna hriat chian a, natna dang a neih loh nan a rawt thei bawk. Genetic test-ah hian thisen sample tlemte lak a ngai a. Genetic test zawhah genetic counselor-in result chungchang a sawipui ang che.

I chhungkuaa mi tu emaw chuan Lesch-Nyhan syndrome a vei a, i naupai a nih chuan i doctor nen inbia ang che. I doctor chuan nau neih hmaa test neih a rawt mai thei a, a bik takin i naute chu mipa a ni tih i hriat chuan. He nau neih hmaa test-naah hian:

• Amniocentesis tih a ni.
• Chorionic villus sample lak a ni.

Lesch-Nyhan Syndrome (LHS) hi damdawi a awm em?

Vanduaithlak takin Lesch-Nyhan syndrome hi damdawi a la awm lo a , enkawl dan pawh a tlem hle. Mahse, healthcare provider-te chuan nang leh i fate chu symptoms enkawl dan tur leh nunphung tha zawk neih theih nan an pui thei che a ni.

Ka fa Lesch-Nyhan Syndrome (LHS) enkawltu team-ah hian tute nge tel ang?

I fain Lesch-Nyhan syndrome a neih chuan specialist leh health worker hrang hrang team chuan a symptoms zawng zawng an cover tlangpui ang. He team hian:

• Geneticist pakhat a ni.
• Kidney lama mithiam (nephrologist) a ni.
• Neurologist pakhat a ni.
• Occupational therapist pakhat a ni.
• Naupang enkawltu doctor a ni.
• Taksa lam enkawltu (physical therapist) a ni.
• Social worker a ni.
• Thusawi leh tawng lama natna (speech-language pathologist) a ni.
• Doctor, urinary system lama tui tak (urologist) a ni.

Lesch-Nyhan Syndrome (LHS) hi engtin nge enkawl a nih?

Lesch-Nyhan syndrome enkawl dan chu i fa natna lan chhuah dan leh a nasat danah a innghat a ni.

Nau piang thar leh naupang tê tête chuan chaw pekna kawngah enkawlna leh puihna dang an mamawh thei a ni .

I healthcare provider chuan hetiang hi a rawn rawt thei ang:

• Uric acid level sang control nan emaw, nungchang lama harsatna tihziaawmna tur damdawi.
• Chaw pek emaw, ei emaw chungchangah tanpuina.
• Hmasawnna awlsam zawk nan wheelchair ang chi puitu hmanrua te.
• Taksa lam enkawlna leh hnathawhna lama enkawlna.
• Invenna hmanrua, splint emaw mouthguard emaw hmanga duh loh vanga chetna, kut zungtang seh ang chi te.
• Kidney emaw bladder lung emaw tihchhiat nan shockwave lithotripsy emaw laser lithotripsy ang chi tih dan.

Ka fain Lesch-Nyhan Syndrome (LHS) a vei theihna tur chu ka tihtlem thei ang em?

Dik tak chuan Lesch-Nyhan syndrome hi ven dan tur a awm lo . Nausen pum chhunga a seilian laia genetic changes (mutations) lo awm vang a ni. Engmah i tih hian he natna hi a thlen thei lo. Chu chu hre reng ang che. A then phei chuan prenatal testing hmangin genetic mutation hmuhchhuah theih a ni.

Naupang Lesch-Nyhan syndrome (LHS) vei tan chuan eng nge a hmalam hun?

Lesch-Nyhan syndrome nei naupangte hmalam hun chu a tlangpuiin a chhe hle . A tlangpuiin ke an kal thei lo va, wheelchair an mamawh bawk. Mi tam tak chuan dam rei lo tak an nei a . He natna khirh tak tak avang hian kum 20 bak dam hi a tlem hle. Mahse, treatment team chuan nang leh i fa chu symptoms te enkawl turin a pui thei a, i fa chu a theih ang anga nuam leh active taka awm turin a pui thei bawk.

Engtikah nge ka fa tan damdawi lam thurawn ka zawn ang?

Lesch-Nyhan syndrome hi hriat hmasak a pawimawh . Health care provider-te chuan nang leh i fate chu tanpuina leh symptom relief chhunzawm zel turin an pe thei che a ni. I doctor chuan i fa mamawh danglam zel ang zela enkawlna ruahmanna siam turin a thawkpui ang che.Mimal enkawlna tur ruahmanna (personalized care plan) a siam thin.

Nu leh pa tam tak chuan Lesch-Nyhan syndrome an vei tih hmuhchhuah a nih hnuah chuan mangang leh tanpui theih lohna nasa tak an nei a. Hei hi a damdawi awm lo, genetic disease a ni tih hi hriatthiam theih a ni. Mahse, a hmaa hmuhchhuah leh enkawl hian naupang nunphung nasa takin a tichangtlung thei a ni. I fa a lo puitlin ruala danglamna thlen thei enkawlna \ha tak takte chu i doctor nen sawiho rawh.

A tawp berah chuan take-home message

Okay, chuvangin kan sawi tawh atang hian Lesch-Nyhan Syndrome chungchang hi i hriat chian ka beisei. Hei hi naupang leh chhungkaw tan chuan thil awm lo tak a ni a, a harsa hle bawk.

• Hei hi genetic disease a ni: nu atanga fapaah a kai darh fo thin a, a nih loh leh genetic mutation thar avanga lo awm a ni thei bawk.
• A lan chhuahna ber chu mahni intihhlum a ni: taksa ruh lama harsatna, gout ang chi dinhmun, leh zirlai lama harsatna a thlen bawk.
• Damdawi awm lo mah se, a lan chhuah dan chu thunun theih a ni: enkawlna hrang hrang leh specialist doctor team-te puihnain naupang nun chu a nuam thei ang bera siam kan tum thei a ni.
• A hmaa hriat chian a pawimawh hle: Natna lan chhuah dan i hriat chuan damdawi lam thurawn la nghal rawh.
• Nangmah chauh i ni lo: Hetiang dinhmunah hian rilru lama chak taka awm chu a harsa thei hle. Mahse, doctor te, counselor te, leh i hmangaih tak takte hnen atangin tanpuina zawng rawh.

He thu hi in tan a tangkai ngei ka beisei. I fa hian heng symptoms te hi a nei a nih chuan a rang thei ang bera doctor thiam tak pan rawh.

` Lesch-Nyhan Syndrome, LNS, HPRT1 gene, uric acid, gout, mahni inhliam, genetic disorder, naupang enkawlna, genetic natna, uric acid