Taksa peng thenkhat chu a pangngai lo takin a lian em? Proteus Syndrome chungchang hi han sawi ila

Mi pakhat, a taksa peng – sawi ta ila, kut emaw, ke emaw – chu a dang zawng aiin a lian zawk leh a tlukpui lova a lian zawk tih i hmu tawh em, i hre tawh em? A nih loh leh hmun thenkhatah chuan vun chu a thim a, lump mak tak ang maiin a lang em? Hei hi thil awm lo tak a ni. Vawiin hian kan sawi dawn a, kan dinhmun hi a mak deuh a, mahse mi zawng zawngin kan fimkhur a pawimawh hle. Proteus Syndrome an ti a.

Proteus Syndrome hi eng nge ni?

A awlsam zawngin, Proteus Syndrome hi genetic condition hmuh tur awm lo tak a ni . I taksa ruh, vun, chhungril peng, a nih loh leh tissue te chu a tipung lutuk a ni . Pawimawh tak chu, he thanlenna hi a tlangpuiin asymmetrical a ni . Chumi awmzia chu taksa dinglam leh veilam a nghawng dan a inang lo tihna a ni. A sir khat chu a lian zawk thei a, a sir dang erawh chu a pangngai mai thei.

Hei hi "Proteus" an ti a, hmân lai Greek pathian pakhat "Proteus" tih a awm a, chu chu eng ang chiah pawhin a inthlak thei a ni. He natna hian taksa pianzia a tidanglam bawk a, chuvang chuan a hming a pu ta a ni.

Nausen piang thar hian he natna hi a lantir lo tlangpui. He hmasawnna danglam tak hi thla 6 leh thla 18 inkar atanga tan a ni . Chumi hnuah chuan kum 10 hmasa berah a hmasawn chak hle a, an lo upat deuh deuh chuan a na zual thei bawk. Taksa pianphung inthlak danglamna bakah hian mi thenkhat chuan thluak lam harsatna an nei thei bawk. Proteus syndrome vei te pawhin thisen zam leh cancer ni lo tumor an vei theihna a sang hle bawk .

Hei hi tuin nge dawng thei ang? Engtiang chiahin nge a hluar?

Proteus syndrome hian tu pawh a nghawng thei a, mahse zirchianna thenkhatah chuan hmeichhia aiin mipaah ​​a tam zawk tih an hmuchhuak.

Hei hi a awm lo hle a ni . Khawvel puma mi maktaduai khat zinga pakhat aia tlem loin a tuar a ni. A tlem em avangin, leh asymmetric growth lantir thei dinhmun dang pawh a awm avangin dik taka hriat a harsa hle. Chuvangin mi engzat nge nei tak tak tih sawi a har hle. Doctor-te chuan mi ṭhenkhat chu hriat chhuah loh an nih an ring a, ṭhenkhat erawh chu hmuhchhuah dik loh an ni. Amaherawhchu khawvel pumah mi za aia tlem loin he natna hi an nei nia rin a ni.

Eng nge a lan chhuah dan? Engtin nge i hriat chian?

Proteus syndrome chhinchhiahna hmasa ber chu thla 6 leh thla 18 inkar a ni tlangpui . Hei hi a hmaa kan sawi tawh ang khan asymmetric growth pattern a intan a ni. Hetianga lo thanglian dan leh a nasat dan hi mi hrang hrangah a inang lo thei hle. Taksa peng eng pawh a nghawng thei a, ruh, vun, taksa peng leh tissue te pawh a nghawng thei a ni. He natna hi kum sawm hmasa berah chuan a zual chak hle.

### Ruh inthlak danglamna:

I kut, ke, luruh leh ruhro ruh te chu a lo thang tha lo thei a ni.

• Kut leh ke hi a sei zawng a inang lo hle thei . I kut pakhat chu a dang aiin a sei zawk emaw, i ke sei zawng pawh a danglam emaw han ngaihtuah teh.
• Spine curvature na tak (scoliosis) a awm thei.
• Hun a kal zel a, he than dan pangngai lo hian ruhte chu a thawk tha thei lo thei a ni.

### Vun inthlak danglamna:

Proteus syndrome hian vunah a lo thang dan pangngai lo a thlen thei a ni.

• Hmun thenkhatah chuan vun hi a thim a, a sang chho a, thluak chunglam ang maia hring (wrinkled bump) a siam thin. Hei hi cerebriform connective tissue nevus an ti a .
• Hengte hi ke kephah ah hmuh tur a awm tlangpui , mahse a chang chuan kut ah a lo thang lian thei bawk.

Hetiang vun lump chi hi a danglam bik em em a, damdawi dangah pawh hmuh tur a awm lo.

### Thisen kalna kawng leh adipose tissue:

• I thisen kalna kawng, chu chu capillaries leh veins te hi a lo thang dik lo thei a ni.
• Adipose tissue hi a lo thang tam lutuk thei a, chu chuan pum, kut leh ke ang chi hmunah thau tam lutuk a awm khawm thei a ni.
• Vawi tam tak chu cancer ni lo, thau tumor (lipomas) a lo awm thei.

### Nervous system lama harsatna awm thei:

Proteus syndrome vei thenkhat chuan nervous system-ah harsatna an nei bawk.

• Thinlung lama harsatna nei te.
• Epileptic natna `(Seizures)`.
• Mit hmuhna hloh.

### Hmel lan dan inthlak danglamna:

Proteus syndrome hian hmêl danglam tak tak a siam thei a.

• Hmel sei tak a ni.
• Mit pawn lam kil chu a tla thla niin a lang.
• Hnar bridge flat tak leh hnar kawng zau tak.
• I hmui inhawng ang mai a ni.

Hei vang hian harsatna hlauhawm tak tak awm thei te chu engte nge ni?

Proteus syndrome natna nunna atana hlauhawm ber chu deep vein thrombosis (DVT) a ni a, chu chu deep vein-a thisen zam a ni . DVT hian ke emaw kut zungtang thuk tak chu a nghawng fo thin a, natna leh hliam a thlen thin.

He `DVT` hian thisen kaltlangin lungah a kal chuan natna hlauhawm tak `Pulmonary Embolism` an tih chu a thlen thei a ni. Pulmonary embolism hi Proteus syndrome vei te thihna thlentu ber a ni.

Engtin nge Proteus Syndrome hi a lo awm? Genetic a ni em?

Hei hi a chhan chu `AKT1` an tih gene a inthlak (mutation) vang a ni.. `AKT1` gene hian cell than leh inthen darh dan tur a control thei a ni. He gene hi tihdanglam a nih chuan cell pakhatin a thanlenna thunun theihna a hloh ta a ni. Hei hian cell chu a lo thang lian a, a inthen darh a, a pangngai lo hle. Hei hi Proteus syndrome-a hmuh tur a lo thang tam lutuk chhan a ni.

A pawimawh ber chu Proteus syndrome hi thlahtu natna a ni lo tih hi a ni. He gene mutation hi embryo fertilization hnuah a thleng a, chu chu somatic mutation an ti a ni. He mutation hi naupai tir lamah embryo lo piang chhuak cell pakhatah a thleng mai mai a ni. He mutated cell hi a lo thang lian a, a inthen darh zel a, cell thenkhat chuan he mutation hi an nei a, thenkhat erawh chuan an nei lo. Hei hi mosaic gene alteration an ti a . Thlalak rawng hrang hranga chi hrang hranga siam ang mai a ni. `AKT1` gene mutation hian taksa chhunga cell thenkhat chauh a nghawng avangin natna hian taksa peng thenkhat chauh a nghawng bawk.

Engtin nge doctor-te hian hei hi an hriat chian?

I doctor chuan taksa enfiahna a nei ang a, Proteus syndrome a awm tih a hriat theih nan. Tin, an dinhmun bik atana symptoms special checklist an hmang bawk ang. Doctor-in he diagnosis hi a ngaihtuah theih nan chuan symptom tlangpui pathum a awm a ngai a ni. Anni chu:

• Mosaic distribution : Hei hian a lo thang lian te chu taksa hmun zau takah a darh zau tihna a ni. Taksa peng thenkhatah chuan thanlenna a awm a, thenkhat erawh chuan a nei lo.
• Sporadic occurrence : Chumi awmzia chu i chhungkuaa midang tumahin heng symptoms hi an nei lo tihna a ni.
• Progressive course : Chumi awmzia chu hun kal zelah he taksa peng hrang hrang a nghawngte hmel hi a danglam nasa hle tihna a ni a, hei hi a lo thang tam lutuk vang a ni.

Hei bakah hian i doctor chuan symptom bik dang a zawng ang. Proteus syndrome i vei tih hriat theih nan doctor checklist-a category hrang hrang atanga symptom bik i neih a ngai a ni.

### Eng ang test nge tih thin?

Proteus syndrome thlentu genetic mutation hi taksa cell tinah a awm lo. Chuvangin genetic testing hi a buaithlak deuh thei a ni. Hei hi thisen sample-ah mutation hi a awm lo thei a, a tlem lutuk chauh a awm thei bawk.

Mahse, doctor-te chuan he mutated gene hi i natna tuar tissue sample tlemte (biopsy) la in, test (DNA testing) hmangin an hmu thei a ni. Chu sample atanga DNA chu mutated gene hmuhchhuah nan an hmang thin.

Hei hi enkawl dan tur a awm em? Dam theih a ni em?

Vanduaithlak takin Proteus syndrome hi damdawi a awm lo . Enkawlna chu i symptom bikte enkawl dan tur a ni. I mimal damdawi mamawhna atana pui turin specialist team nen thawhhona tha tak i neih a ngai dawn a ni.

• Orthopaedic surgeon a niI ruh chungchanga harsatna awmte a enkawl. Kut, ke leh kut zungtang ruh lian lutuk tihziaawmna turin enkawlna chi hrang hrang a awm a. Tin, ruhro leh ruhkawr lama harsatna awmte pawh an siam tha thei bawk. Eng surgery pawh tih hmain thisen zam i neih theih dan tur ngaihtuah turin hematologist-in a evaluate ang che.
• Sebum tam lutuk leh vun inthlak danglam a awm chuan dermatologist i pan a ngai mai thei. Harsatna thenkhat chu enkawl vat leh enkawl fo a ngai mai thei. Harsatna dang atan chuan i doctor chuan "nghak la, en rawh" tih dan a hmang thei bawk. Chu chu, enkawlna bik eng emaw an rawt hmain i dinhmun chu an enfiah hmasa ang tihna a ni.

I enkawlna kawnga inrawlh thei healthcare provider dangte chu:

• Rehabilitation medicine lama mithiam (Physiatrist) a ni.
• Doctor pakhat, thawkna lam natna lama tui tak (Pulmonologist) .
• Taksa lam enkawltu a ni
• Occupational therapist a ni
• Kekawrte leh kekawrte bik siamtu (Pedorthist) .

Tun hnaiah chauh scientist-te chuan Proteus syndrome thlentu gene an hmuchhuak a, hei hian damdawi thar leh enkawlna dang siam chhuahna kawngah hmasawnna lian tak a thlen thei a ni.

Hei hi ven dan tur a awm em?

Ni lo, Proteus syndrome hi a veng thei lo. Hei hi a chhan chu genetic condition a nih vang a ni. A thlentu gene mutation hi nausen lo piang chhuak lai hian random event a ni. Naupai hma leh naupai laia thil thleng engmah avanga lo awm a ni lo. Chuvangin ngaihtuah buai suh.

Engtin nge dam rei zawng hi a awm?

Proteus syndrome vei dam rei zawng hi taksa peng hrang hrang a nghawng dan leh a natna nasat danah a innghat nasa hle. Complications can be life-threatening , natna aiin thihna thlentu a tam zawk. Heng harsatnate hi deep vein thrombosis (DVT), pulmonary embolism, leh cancer te a ni thei. Pulmonary embolism hi Proteus syndrome vei te thihna thlentu ber a ni.

A pum puiin Proteus syndrome vei zinga 25% vel chu kum 22 an tlin hmain an thi a, mahse, symptoms na lo nei te hian a tlangpuiin enkawlna tha tak nen dam rei tak an nei tha hle.

Proteus Syndrome hi engtin nge kan nun theih ang?

Proteus syndrome avanga taksa inthlak danglamna nen nun hi a lungchhiatthlak hle thei a, a harsa thei hle bawk. He dinhmun hi nang leh i chhungte tan a theih ang anga hriat a pawimawh hle.He natna vei mi dangte nena inbiakna leh an thil tawn ngaihthlak hian nangmah chauh ni lo ang maia inhriatna leh hrethiamtu mi an awm tih hriatna a pe thei che a ni. I doctor hnenah i dinhmun enkawl leh hmachhawn thei tur resources te zawt rawh.

Nangmah emaw, i fa emaw hian genetic condition hmuh tur awm lo tak i nei tih hriat chu thil hlauhawm leh lungchhiatthlak tak a ni thei. A bik takin, chu natna chuan taksa lama danglamna nasa tak a thlen chuan a harsa thei hle. Chuvangin, Proteus syndrome dik taka hmuchhuak thei tur leh specialist team assemble thei tur doctor zawn a pawimawh hle. Enkawlna \ha tak a awm chuan mi tam zawk chuan dam rei zawng an nei tha hle. He diagnosis harsa tak i hmachhawn mek lai hian i tanpui thei tur mi pawl i zawn a pawimawh bawk.

Thil pawimawh ber (Take-Home Message) hre reng ang che .

• Proteus syndrome hi genetic condition a awm lo hle a, taksa peng thenkhat chu asymmetrical, excessive growth a ni.
• Hei hi hereditary a ni lo . Embryonic stage chhunga random genetic mutation lo awm vang a ni.
• Mi hrang hrangah symptoms a inang lo thei hle .
• Damdawi famkim awm lo mahse , symptoms enkawl nan enkawlna hrang hrang a awm.
• Specialist doctor team te puihna zawng a, natna chungchang hriat chian a pawimawh hle.
• Nunna humhim nan deep vein thrombosis (DVT) leh pulmonary embolism (Pulmonary Embolism) ang chi harsatna awm thei te hriat a pawimawh hle.
• Nangmah emaw, i hmangaih tak emaw hian he natna hi i vei a nih chuan, psychological support leh support group atanga chakna lo chhuak chu theihnghilh suh ang che .

He thu hi in tan a tangkai ngei ka beisei. Thil ngaihtuah tur i neih chuan damdawi lam thurawn lak theihnghilh suh.

` Proteus Syndrome, Genetic Diseases, Abnormal Development, AKT1 Gene, DVT, Pulmonary Embolism, Vun natna, Ruh thanna, Rare Diseases