McCune-Albright Syndrome hi eng nge ni? Kan sawi dawn nia!

Kan fate hriselna hi kan ngaihsak vek a ni lawm ni? A châng chuan, kan fate taksaa kan beisei loh khawpa danglamna tenau kan hmuh hian hlauhna tlem kan neih hi thil pangngai a ni. Vunah a sen hring, emaw ruh thanna a inthlak danglam deuh emaw, naupang beisei aia hmaa puitlin hun a luh ang chi emaw pawh a ni thei. Chungte chu a pawi reng lo va, mahse a chang chuan genetic condition hmuh tur awm lo tak chhinchhiahna a ni thei bawk. Chutiang genetic condition hmuh tur awm lo, mahse hriat tur awm tak pakhat chu vawiinah hian kan sawi dawn chu McCune-Albright Syndrome hi a ni.

McCune-Albright Syndrome hi eng nge ni?

A awlsam zawngin McCune-Albright syndrome hi genetic condition a ni. Naupang ruh, vun, leh endocrine system, a nih loh leh hormone siamtu gland-te a nghawng ber a ni . Hetiang dinhmun hian ruh tissue-a hliam (chu chu ``fibrous dysplasia'' kan tih) ang chi thil a thlen thei a ni. Tin, vunah hian special spot (pigmentation) a siam bawk a, growth control tu gland thenkhat chu overactive an ni.

Naupang thenkhat chu he natna hian nasa takin a nghawng lo thei tih hre reng ang che, a lan chhuah dan pawh a na lo hle. Mahse, mi dangte tan chuan a na zawk thei a, a chang chuan nunna atana hlauhawm pawh a ni thei. Chuvangin hei hi hriat chian a pawimawh.

He dinhmun hian tute nge a nghawng ber?

McCune-Albright syndrome hi genetic mutation thar atanga lo chhuak a ni . Chumi awmzia chu nu leh pa atanga fate rochun thil a ni lo tihna a ni. Heng genetic mutations te hi engtikah nge a lo awm ang a, engtin nge a awm dawn tih kan sawi lawk thei lo. A tlangpuiin, he genetic mutation hi naupai/fertilization hnuah, nu pum chhunga nau pai a nih hian, cell inthen darh leh replication lama tihsual vang a ni.

Hei hi hre reng ang che: He genetic mutation hi naupai laia nu leh pate thil tih leh tih loh avanga lo awm a ni lo. Chuvangin ngaihtuah buai suh.

Hetiang dinhmun hi engtiang chiahin nge a awm?

Dik tak chuan McCune-Albright syndrome hi a awm lo hle. Khawvel pumah chuan he natna hi nau piang sang za emaw maktaduai khat emaw zinga pakhat velin a thleng niin an chhut . Chuvangin, hmuh fo thin thil a ni tak tak lo.

McCune-Albright Syndrome hian engtin nge naupang taksa a nghawng?

Hetiang dinhmun hian naupang taksa chu kawng hrang hrangin a nghawng thei a ni. A bik takin, ruh thanna leh endocrine system (hormonal system) hnathawh dan a nghawng thei a, chu chuan naupang san zawng leh rihna a nghawng thei a ni .

Tin, i fa vunah hian a dum (``café-au-lait spots'' tia koh) chi hrang hrang i hmu thei bawk. Thil pawimawh dang chu naupang thenkhatKum naupang takah puitlin theihna chhinchhiahna lantir.

Heng natna lanchhuahna avang hian i fa chu a thang lian leh a than dan pangngaiah harsatna a tawk nia i hriat chuan damdawi lam thurawn lak nghal a pawimawh hle. Doctor chuan i fate tana hman tur bik enkawlna ruahmanna a pe ang a, a natna lan chhuah dan control nan a pui ang.

McCune-Albright Syndrome natna lan chhuah dan chu engte nge ni?

Hetiang natna lan chhuah dan hi ruh, vun leh endocrine system (hormonal system) ah te hmuh tur a awm ber a ni . Mahse, heng symptoms te hi naupang tinah hian a inang lo va, a nasat dan pawh a inang lo. Naupang hrang hrangah an danglam thei.

Ruh natna lan chhuah dan

He natna ruh nena inzawm ber leh langsar ber chu ``fibrous dysplasia'' an tih hi a ni.A awlsam zawngin, hei hi ruh hrisel ni lovin ruh chhungah scar tissue a lo thang lian zawk a ni. Chuvangin, naupang a lo puitlin chuan he fibrous tissue awmna hmunte hi a chak lo ta hle a ni. Hei hian ruh a tikehsawm thei a, a nih loh leh ruhte chu a lo thang dik lo thei a, a tichhe thei bawk . Ruh natna vei zat a zirin he ``fibrous dysplasia'' natna hi mi thenkhatah chuan a na lo thei a, thenkhatah chuan a na thei bawk.

Thil dang chu, a tlem hle a, chu chu he natna vei zinga 1% aia tlem tihna a ni, he ``fibrous dysplasia`` hian cancerous bone lesions/tumors a thlen thei a ni. A tlem hle a, mahse hriat chian a tha.

Ruh nena inzawm natna dangte chu:

• Hmai ruhte chu asymmetrical taka lo thanglian a ni.
• Ruh na leh nuam lo.
• Kal leh che harsa (Loss of mobility).
• Ruh chak lo thei natna, `Rickets` emaw `osteomalacia` emaw ang chi te.
• Scoliosis natna (Scoliosis) a ni.
• A sei zawng tawi.
• Ke ruhte a lo thanglian dan inang lo (hei hian kea kal theihna a thlen thei).

Vun natna lan chhuah dan

McCune-Albright syndrome neia piang naute thenkhat chuan vun pigmentation hi an vun hmun dang nen a danglam hle . Heng spot te hi light brown atanga dark brown thlengin a awm thei . Ramri jagged tak tak an nei bawk. Chungte chu café-au-lait spot an ti a. Taksa sir khatah chauh an lang thei. Naute a lo puitlin chuan heng spot te hi a langsar zual thei a, a pung thei bawk.

Endocrine system atanga natna lan chhuah dan

Hetiang dinhmun hian naupang endocrine system, hormone siamtu glands system chu a nghawng thei a ni. Chuvângin, naupangte chuan kum naupang tê tê aṭangin puitlin chhinchhiahna an lantîr thei a ni . A bik takin hmeichhe naupangte chuan kum hnih an nih atangin thlasik an nei tan thei a ni.Hei hi an ovary-a cyst awmte hian hmeichhe sex hormone estrogen tam lutuk an siam chhuah vang a ni. Mipa naupangte pawhin heng puitlin hun hma lam chhinchhiahna te hi an tawng thei bawk.

McCune-Albright syndrome vei zinga 50% vel chuan thyroid gland lian tak an nei a ni . Thyroid gland a lo lian chuan thyroid hormone a siam tam lutuk a. Hetiang dinhmun hi hyperthyroidism an ti a. Hei hian thinlung thawk chak, thawk hah lutuk, thisen sang, leh taksa rihna tlahniam ang chi natna lan chhuahna a thlen thei a ni .

Endocrine system nena inzawm natna dangte chu:

• Pituitary gland-in growth hormone a siam tam lutuk. Hei hian taksa peng lian zawk, hmai zungbun, leh/ emaw arthritis ang chi (acromegaly) a thlen thei a ni.
• Adrenal glands hian stress hormone cortisol hi a siam tam lutuk a. Hei hian Cushing’s syndrome an tih natna a thlen thei a, chu chu thau lutuk leh than chak lohna a ni.

Hei hi eng nge a chhan?

McCune-Albright syndrome hi GNAS1 gene-a mutation awm vang a ni. GNAS1 gene hian hormone hnathawh control thei protein a siam chhuak a. Chuvangin, he gene-ah hian mutation a awm chuan adenylate cyclase (protein a ni bawk) an tih enzyme chuan hormone a siam tam lutuk tan thin. Chu chu heng symptoms te hi a awm chhan a ni.

Thil pawimawh tak chu he genetic mutation hi nu pum chhunga nau a pai hnua lo awm a ni (somatic mutation). Chu chu, hei hi nu leh pa atanga naupang hnena rochun condition a ni lo tihna a ni. Hei hi nu emaw, pa emaw sual vang emaw, naupai laia an thil tih leh tih loh vang a ni lo. Tin, McCune-Albright syndrome vei mi pakhatin nau a neih ang chiah hi a nei tih finfiah a awm lo bawk. He ``somatic mutation`` a awm chhan dik tak hi hriat a la ni lo. Research atanga a lan dan chuan hengte hi random, spontaneous events a ni.

He natna hi engtin nge an hriat chhuah?

McCune-Albright syndrome hi naupan lai atanga hmuhchhuah a ni tlangpui. Doctor chuan naupang chu a enfiah ang a, endocrine system dik lo, vun natna ``café-au-lait spots'' leh ``fibrous dysplasia'' te a zawng ang. He natna hi puitlin hma emaw, ruh lo piang dan pangngai lo emaw chhinchhiahna hmuh a nih hnuah tih a ni fo.

Hemi atan hian eng ang test nge tih thin?

He natna hi hriat theihna tura test-naah hian:

• Thisen test: Endocrine system (hormone system) hnathawh dan enfiah thin.
• Genetic testing neih dan tur: 1.1.I symptoms thlentu genetic mutation chu hmuchhuak rawh. Hei hian vun emaw tissue dang emaw sample tlemte (biopsy) lak a, test a ngai tlangpui.
• Imaging test: X-ray ang chi test hi ruh than dan enfiah nan an ti thin.

Engtin nge enkawl a nih?

McCune-Albright syndrome enkawl dan hi mi hrang hrangah a inang lo. He natna hi damdawi a awm lo. Enkawlna tum ber chu symptoms tihtlem leh control hi a ni.

Enkawlna atan a hnuaia mite hi tih theih a ni:

• Ruh thanna lama harsatna nei damdawi, bisphosphonates te hian ruh ruh tliak theihna a ti tlem a ni.
• Puitling hmaa control na tur damdawi, entirnan, aromatase inhibitor.
• `Hyperthyroidism` natna atana damdawi, entirnan `antithyroids`.
• Mobility lama harsatna nei tan chuan physical therapy leh occupational therapy te a awm a.
• Ruh thanna lama harsatna, a bik takin fibrous dysplasia avanga operation neih thin.

Ka fain he natna a neih theihna tur hi ka tihtlem thei ang em?

Kan sawi tawh ang khan McCune-Albright syndrome hi genetic mutation thar avanga lo awm a ni. Chuvangin, a thleng tur venna tur engmah kan ti thei lo.

Naute i beisei a nih chuan i doctor nen genetic counseling chungchang sawipui la, genetic condition dang i neih theihna tur i hlauhawm em tih hriat a tha. Mahse, he natna bik, McCune-Albright syndrome hi a hmaa ven theih thil a ni lo.

Ka fa hian hetiang dinhmun hi a nei a nih chuan eng nge ka beisei ang?

I fa tana prognosis chu natna nasat danah a innghat a ni. Amaherawhchu, mi tam zawk chuan nun pangngaiin an khawsa a ni. I medical team chuan i fate natna lan chhuah dan tihziaawmna tur leh an natna tihziaawmna tur damdawi tha ber zawng turin an pui ang che.

I fa chu an kum rualpui dangte aiin a tawi deuh mai thei a, a chhan chu a puitlin hma avangin growth plate te chu a khar hma a ni. Mahse, he natna hi hriatchhuah leh enkawl hmasak a nih chuan heng puitlin hun inthlak danglamna hi tihkhawtlai theihna chance a awm.

I fate a lo thanlen dan tur dik tak i hriat theih nan i fate hmasawnna tur thil pawimawh tak takte i hriat reng a pawimawh hle .

He natna atanga cancer vei theihna chance a tlem hle a, chuvangin i fa chu medical checkup neih reng a pawimawh hle.

A bik takin McCune-Albright syndrome vei hmeichhiate hi kum pangngai aia naupang zawkah hnute cancer vei theihna a sang zawk a, chuvangin he thu hi i doctor nen inbiakna neih a pawimawh a, test rawtna neih a pawimawh hle.

Engtik hunah nge doctor ka hmuh ang?

I fain McCune-Albright syndrome symptoms a neih chuan doctor pan rawh. Entir nan:

• Hahdam lo fo, thil tih tam lutuk, thinrimna chhuak nghal, leh mut theih lohna (hengte hi hyperthyroidism chhinchhiahna a ni thei).
• Ruh than dan dik lo avanga ruh pianzia inthlak danglam.
• Kal harsat.
• Kum naupang tak atangin thlasik hun hi a intan thin.
• Ruh natna nasa tak a awm.

Rikrum! I fain ruh a tliak (e.g., na, a hring, a che thei lo emaw, a rihna a phur thei lo emaw, a hliam) a nih i rin chuan emergency room-ah kal nghal rawh.

Doctor hnenah eng zawhna nge i zawh tur?

I fain he natna hi a nei tih i hriat hnu chuan doctor hnenah hetiang zawhna hi zawh hi a \angkai thei ang:

• Ka fa hian a natna lan chhuah dan tihziaawm nan damdawi a mamawh em?
• Ka fa hian fibrous dysplasia a neih avangin operation a mamawh dawn em?
• Ka fa hnena symptoms control nana damdawi pek te hian side effect a nei em?

I fa hian genetic condition hmuh tur awm lo tak a nei tih hriat chu nu leh pa tharte tan chuan a buaithlak thei hle. Mahse, a hmaa hriat chhuah leh enkawl hian i fa chu a natna lan chhuah dan tur a hmachhawn thei tih hre reng ang che. I doctor pawhin genetic counselor, genetics lama mithiamte hmu turin a rawt thei bawk. Anni hian diagnosis hriatthiamna tha zawk an pe thei che a, i mamawh emotional support pawh an pe thei bawk. I fate nun hrisel leh hlim taka a awm theih nâna i tih theihte chu an kaihruai thei bawk che a ni.

Thil pawimawh hriat reng tur (Take-Home Message) .

McCune-Albright syndrome hi a awm lo hle a, mahse genetic condition na tak a ni thei.

• Hei hian ruh, vun, leh hormone system a nghawng a ni .
• A lan chhuah dan ber chu ``fibrous dysplasia`` (ruh chhunga scar tissue), ``café-au-lait spots`` (vunah rawng dum), leh puitlin hma te hi a ni.
• Hei hi nu leh pate rochun thil a ni lo; genetic mutation lo awm thar a ni.
• Damdawi famkim awm lo mah se, natna lan chhuah dan thunun theihna tur enkawlna tha tak tak a awm.
• A hmaa hriatchhuah leh enkawl dan bakah damdawi lam enkawl reng reng hi a pawimawh hle.
• Nangmah chauh i ni lo; doctor leh genetic counselor te hnen atangin tanpuina zawng rawh.

He thu hian he dinhmun hi hriatthiamna engemaw chen i neih theih nan a puih ngei ka beisei. Ringhlelna i neih chuan doctor biak hreh ngai suh.

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