I fa te hian sam mak tak maiin a hrual em? Menkes Disease chungchang hi i zir dawn teh ang!

I naute tê sam chu mak tak mai, wire ang maia hrual, a rawng hring, leh a chhe awlsam tih i hmu ngai em? A nih loh leh i naute taksa chu a hlimthla leh a vawt hlein a hria em? Hengte hi a chang chuan kan ngaihven vak loh thil ni mahse, natna hmuh tur awm lo thenkhat chhinchhiahna hmasa ber a ni thei. Entirnan, nausen natna lo awm thei, mahse sawi tam vak loh chu Menkes Disease an ti a. Hemi chungchang hi vawiinah hian chipchiar deuhin han sawi ila.

Menkes Disease hi eng nge ni? A awlsam zawngin...

Menke natna hi genetic condition a ni a . Naute chu a pianpui tihna a ni. Hemi a thil thleng chu taksain ei tur pawimawh tak copper chu a hmang dik thei lo tih hi a ni . Tunah chuan, "Copper hi eng atan nge?" Dik tak chuan copper hi kan taksa chhunga system pawimawh tam tak hnathawh dan tur dik taka thawk theitu a ni. Ngaihtuah teh:

• Kan nervous system (chu chu thluak leh taksa pum puia tlan nerve te) hian a thawk tha tur a ni.
• Kan ruhte hi nghet takin vawng reng ang che .
• Kan sam leh vun hi hrisel takin awm rawh se.
• Kan thisen kalna kawng (thisen kalna hmun) te hi a thawk tha tur a ni.

Heng zawng zawng atan hian copper hi a pawimawh hle. Chuvangin, Menkes Disease vei naute taksa hian he copper hi a hmang dik lo a nih avangin chhiatna nasa tak a thlen thei a, a bik takin nervous system a tichhe thei a ni. Hei hian naute thanna a tikhawlo a, taksa a chak lo bawk. Thil lungchhiatthlak tak chu, he natna hian nunna a tichhe thei a ni .

He natnaah hian naute sam chu mak tak maiin a hrual a, wire ang maiin a lang a, chuvangin mi thenkhat chuan "kinky hair disease" an ti thin.

A pawimawh ber chu hei hi damdawi famkim a la awm lo. Amaherawhchu, nausen pian atanga kar li chhunga copper enkawl tan a nih chuan a natna lanchhuahna tihziaawmna leh naute dam rei deuh theih a ni. Chuvangin, a hmaa hriat chian a pawimawh hle.

Menkes Disease hi engtiang chiahin nge a hluar?

Khawvel pumah hian tun hma chuan nau piang thar 100,000 zinga pakhat velin he natna hi an vei thei niin an ngai a. Chu chu maktaduai hnih leh a chanve zinga pakhat vel a ni.

Mahse, kum 2020-a Genome Aggregation Database atanga data hmanga zirchianna thar an neihah chuan he zat hi a tam zawk thei tih hmuhchhuah a ni. Chumi ang chuan United States-ah chauh pawh naupang mipa 8,664 zinga pakhat, kum khatah naute 225 velin he natna hi an nei thei niin an sawi.

Nakin lawkah nau piang tharte screening method siam a nih chuan heng statistics te hi a dik lehzual ang a, natna hi a hmain hriatchhuah theih a ni ang a, enkawl tan theih a ni ang.

He natna hi tuin nge vei tam ber?

Menkes Disease hi mipa naupangah a tam zawk.A nghawng nasa ber chu a ni. Mahse eng chi, eng chi pawh a nghawng thei a ni.

Menkes Disease natna lan chhuah dan chu engte nge ni?

Menkes Disease vei naute hi a chang chuan a hun hmain an piang thei bawk . Pian tirh lamah chuan a tlangpuiin hrisel takin an lang thei.

Mahse, a lan chhuah hmasak ber chu thla 2 atanga thla 3 vel a nih veleh a lang tan thin . Chungte chu:

• Kinky hair hi sam chi khat, curly, wiry, wavy tak a ni. He sam hi a rawng a eng hle a, a chang chuan a var emaw, a sen emaw a ni. A chhe awlsam bawk.
• Muscle tone tlahniam (Hypotonia): Chumi awmzia chu naute taksa chu a limp hle tihna a ni. Nunna nei lo niin a lang.
• Taksa lumna hniam (Hypothermia): Naute taksa chu a vawt reng reng a.
• Hmai chu a tla thla a .
• Epilepsy symptoms (seizures/epilepsy) , chu chu seizures ang chi dinhmun a ni.
• Zawi zawiin a lo thang lian lo a, a lo thanglian thei lo: Naute chu a thang tha lo va, a thau lo bawk .
• Vun leh mit a sen (jaundice).

Heng symptoms te hi naute tin ah a rualin a lang lo. A châng chuan, a tlem hle nachungin, heng chhinchhiahnate hi naupan lai emaw, tleirawl lai emaw pawhin a lang thei a ni.

Menkes Syndrome avanga harsatna awm thei te chu engte nge ni?

Menkes Syndrome hi neurodegenerative disorder a ni a , zawi zawiin nervous system a tichhia a ni . Chumi awmzia chu hun kal zelah thluak leh ngaihtuahna thiamnaah hian hriatna lama harsatna a lo awm tihna a ni. He natna vei naupang leh puitlingte hian harsatna an nei thei a, chungte chu:

• Harsatna hrang hrang thluaka thisen chhuak (subdural hematomas) .
• Diverticulosis chu intestine emaw bladder emaw wall atanga pouch te te lo chhuak a ni.
• Luruh chhunga ruh te tak te (Wormian ruh) extra siam chhuah.
• Motor thiamna hloh .
• Osteoporosis hi ruh a chak lo va, a chhe thei a, a chhe awlsam phah a ni.
• Arterial tortuosity syndrome a awm a .

Hetah hian sawi tur pawimawh tak a awm. A châng chuan, naute thluaka thisen chhuak emaw, ruh tliak emaw a awm chuan, doctor-te chuan naupang chu tihduhdah a ni tih an ringhlel thei a ni. I fa chu hmun him takah a awm tih i hriat a, mahse heng symptoms te hi an lantir a nih chuan i doctor nen inbiakna nei ngei ang che, Menkes Disease test neih dan tur sawipui rawh.

Occipital Horn Syndrome (OHS) hi eng nge ni?

Occipital Horn Syndrome (OHS) hi Menkes Disease natna chi khat, a na zawk a ni.Chumi awmzia chu a symptoms chu chutiang chuan a na lo tihna a ni. Naupang kum 5 leh kum 10 inkar a nih chuan hriat chhuah a ni tlangpui.

Menkes Disease symptoms na lo tak tak bakah hian OHS vei naupangte pawhin:

• Occipital horns: Hei hi luruh bul lama calcium awm avanga ki ang chi a ni.
• Dysautonomia: Nervous system lama harsatna awm, thisen sang leh taksa inthlauhna ang chi thil tichhe thei.
• Joint leh vun a lo chhuak.
• Ngaihtuahna lama harsatna tenau te.

Menkes Disease hi eng thilin nge a thlen?

Kan sawi tawh ang khan Menkes Disease hi genetic disease a ni . Chu chu pian tirh lamah a awm tihna a ni. A hmun thuma ṭhena hmun hnih vêlah chuan nu aṭanga rochun gene dik lo avânga lo awm a ni . Mi hmun thuma ṭhena hmun khat vel chu ATP7A an tih gene-a mutation thar awm vang a ni.

He natna thlentu gene hi `ATP7A` an ti a, chu chuan kan taksaa copper awm zat control tu protein siamchhuahna a nghawng a ni. Chuvangin he `ATP7A` gene hian hna a thawh that loh chuan kan taksa hian copper hi a `transport` tha thei lo.

Mipa naupangte hian he gene hi an rochun tam zawk a, a chhan chu Menkes Syndrome hi X-linked genetic disorder a nih vang a ni . Mipa naupang hian X chromosome pakhat an nei a. Chuvangin a chungah gene chhia a awm chuan natna chu a lo awm ang. Hmeichhia hian X chromosome pahnih an nei a, chuvangin he natna hi lo nei tur chuan gene chhia pahnih hi rochun a ngai a ni.

Engtin nge doctor-te hian Menkes Disease hi an hriat theih?

Menkes Disease hriat chian nan doctor chuan naupang chu a enfiah hmasa ang. A bik takin, sam hring leh hring (brittle, curly hair) te chu an ngaihven ang . Tin, symptoms leh chhungkaw medical history te an zawt bawk ang. Naupang chu test theih a ni bawk:

• Thisen test: Thisen sample lak a ni a, copper, ceruloplasmin (copper kengtu protein), leh catecholamines, hormone, taksa peng hrang hrang chetna leh rilru put hmang thunun theitu a tlem em tih enfiah a ni.
• CT scan emaw X-ray emaw: Hei hian naupang luruh chhungah ruh te tak te, twisted (wormian bones) a zawng ang. Hengte hi copper tlakchham vanga connective tissue-a harsatna awm vang a ni.
• Skin biopsy: Naupang vun sample tenau tak tak lak a, microscope hmanga enfiah a, naupang taksain copper a hman that dan enfiah a ni.
• Ultrasound: Hei hi bladder enfiah nan hman a ni. Diverticula, chu chu bladder atanga lo chhuak pouch a ni a, Menkes Syndrome natna vei tam tak a ni.
• Urine test: He test hian zun chhunga acid thenkhat (HVA/VMA) a san leh awm loh a enfiah thin. Heng acid awm zat hi copper-a innghat enzyme hnathawh dan azirin a inang lo.

Ka fa hian Menkes Disease a neih leh neih loh genetic test a nei thei ang em?

Researcher-te chuan Menkes natna hi a hmaa hriat theih dan thar an la zawng mek a ni. ATP7A gene-a mutations zawnga genetic testing hi chutiang tih theihna kawng khat a ni.

Doctor ten Menkes Disease hi engtin nge an enkawl?

Enkawlna a hlawk ber tur chuan nau piang atanga ni 25 atanga ni 28 chhungin tan tur a ni . Enkawlna hlawhtlinna chu `ATP7A` gene-a mutation nasat danah a innghat a ni.

Doctor te chuan Menkes natna vei naupangte chu subcutaneous injection atan copper substitute copper histidine an tih chu an pe thin . He enkawlna hian a tum ber chu thisenah copper awm zat tihpun a ni. Tin, nervous system chhiatna tihziaawmna tur te, seizure ang chi dinhmun tihziaawmna te, naupang dam rei theihna tur te pawh a pui thei bawk.

Engtin nge ka fa natna lan chhuah dan hi ka enkawl theih ang?

Menkes Disease hi damdawi a la awm loh avangin doctor-te chuan symptoms enkawl dan tur an ngaihtuah ber a ni. I fa enkawltu medical team chuan hetiang hi an ti thei ang:

• Seizures control nan damdawi pek.
• Enteral nutrition chu naupangin nutrients a lakluh that zawk nan tube hmanga chaw pek hi a ni .
• Physics therapy emaw occupational therapy emaw hman dan tur rawtna siam .
• Natna damdawi pek chhuah .

Menkes Disease vei te hmalam hun chu eng nge ni?

Enkawlna hi tan hma loh chuan Menkes Disease vei naupangte hi kum thum aia rei lo an dam tlangpui .

Enkawlna hmang pawhin Menkes Disease symptoms hi hun kal zelah a zual thei hle. Hetiang natna vei mipa naupang enkawlna dawng pawh kum 10 emaw a aia rei lo emaw an dam thei.

Menkes Disease hi ven theih a ni em?

Vanduaithlak takin Menkes Disease hi ven theih a ni lo . Chhungkaw member emaw naupang emaw hetiang natna nei i neih chuan doctor nen inbiakna neih a pawimawh a, genetic counseling lak a pawimawh .

Nau i pai hma hian Genetic test (Genetic testing / DNA test) hmangin Menkes Disease thlentu gene i nei em tih i hre thei ang. Chhûngkaw ruahmanna i siam hunah he thu hian a ṭanpui thei che a ni.

Menkes Disease chungchangah hian engtikah nge doctor i hmuh ang?

I fain Menkes Disease symptoms a nei nia i hriat chuan doctor pan nghal rawh . A hmaa hmuhchhuah hian he natna vei naupangte nunphung a tichangtlung thei a ni.

Menkes Disease hi X-chromosome hmanga rochun a nih avangin hmeichhiate hian DNA test an nei thei a, natna thlentu gene an neih leh neih loh hriat theih a ni. Fa neih hmain doctor nen genetic counseling chungchang sawipui hmasak phawt a tha.

I fain Menkes Disease a vei a nih chuan i doctor nen a symptoms enkawl dan tha ber ber leh i nunphung tihchangtlun dan tur sawipui rawh. Menkes Disease hi damdawi awm lo mah se, doctor-te chuan he natna hi hriatchhuah leh enkawl dan thar zawngin nasa takin hma an la mek a ni. Tin, Menkes Disease vei naupang nu leh pate tan support group-a tel hi thil tawn inhrilhhriatna leh thlamuanna hmuhna kawng tha tak a ni.

Hriat reng tur pawimawh ber berte (Take-Home Message) .

Okay, chuvangin kan sawi tawh atang khan i hriat reng tur thenkhat chu khaikhawm ila:

• Menkes Disease hi genetic disorder a ni a, taksain copper a hmang dik lo.
• Hei hi mipa naupangah a tam zawk .
• I naute sam chu a danglam deuha a curling a, a rawng a hring deuh a, a texture a hrual a, a lo thang chak lo a nih chuan doctor lam pan nghal rawh.
• Natna hi hriatchhuah hmasak a pawimawh hle a . Pian tirh atanga kar 4 chhunga enkawl tan a nih chuan a tha ber.
• Damdawi famkim awm lo mah se, a natna lan chhuah dan tihtlem leh dam rei theihna tur enkawlna a awm .
• Chhungkaw zingah heng natnate hi i nei a nih chuan, genetic counseling zawng chu a finthlak hle ang .

He thu hi in tan a tangkai ngei ka beisei. Ringhlelna i neih chuan Doctor biak pawh a tlai ngai lo.

` Menkes natna, Copper, Genetic natna, Naupang natna, Nervous system, Curly hair, ATP7A