I naute hian hetiang thil hi a tuar em? Congenital Adrenal Hyperplasia (CAH) chungchang hi i zir dawn teh ang!

A châng chuan naute piang thar i en hian, a nih loh leh naupang lo puitling tlem i en hian, danglamna engemaw zat i hmu tawh mai thei. Doctor pakhatin i fa hian `(Congenital Adrenal Hyperplasia)` emaw `(CAH)` emaw tih natna a nei tih a hrilh che a ni mai thei. He hming i hriat hian hlau suh. Tlem a buaithlak viau nachungin, Sinhala tawng awlsam leh hriatthiam awlsam takin sawi ila. I thianpa nen in inbia ang maiin.

Congenital adrenal hyperplasia (CAH) tih hi eng nge ni?

A awlsam zawngin sawi ila, CAH hi pianpui, a nih loh leh genetic condition a ni a, kan taksaa adrenal glands te hi a nghawng ber a ni. Kan kal (kidney) chungah hian gland te tak te pahnih a awm tih i hre reng em? Chu chu adrenal glands kan tih chu a ni . Tlemte ni mah se, kan taksa hrisel taka hnathawhna atana pawimawh hormone pawimawh engemaw zat an siam chhuak a ni.

Heng hormone te hi eng nge an nih i lo en ang u:

• Cortisol: He hormone hian kan taksa chu stress, natna leh hliam tuar thei turin a pui thin. Thisen sang, chakna level, leh thisen sugar level ang chi thil tihreh nan pawh a pawimawh hle.
• Aldosterone: He hormone hian kan taksaa chi (sodium) leh tui awm zat dik tak a awm reng theih nan a pui a ni. Thisen sang leh thisen volume control nan a mamawh bawk.
• Androgens: Hengte hi mipa sex hormone (entir nan testosterone) te an ni. Heng hormone te hi puitlin hun, than dan pangngai leh thanlenna atan a pawimawh hle.

Tunah chuan `(CAH)` vei chunga thil thleng chu heng adrenal glands te chu chutiang hormone pawimawh siam tura puitu enzyme pakhat emaw a aia tam emaw chu a tlahniam emaw, a bo emaw a ni. He enzyme tel lo chuan adrenal glands te hian hna an thawk tha thei lo. Tichuan:

• Cortisol i siam chhuak tlem hle mai thei .
• Aldosterone a siam chhuah tlem pawh a ni thei.
• Androgen tam lutuk a lo chhuak mai thei.

He hormone imbalance hi `(CAH)` condition-a thleng ber a ni.

`(CAH)` chi hrang hrangte chu engte nge ni?

CAH hi chi hnih a awm a. Heng chi hnih hian case 95% an nei a ni.

1. Classic CAH: Hei hi CAH natna khirh ber leh pawi ber a ni. Adrenal glands-a harsatna nasa tak a thlen thei a, shock leh coma thlengin a thlen thei bawk. A hmaa hriatchhuah leh enkawl loh chuan nunna atana hlauhawm tak a ni thei. He classic CAH condition hi pian tirh atangin hmuhchhuah a ni tlangpui.

Hei hian subtype pahnih a nei bawk a:

• Salt-wasting CAH: Hei hi (CAH)-a awm chu a ni.A na ber ber chu . Hetiang a nih chuan adrenal glands hian aldosterone a siam a, chu chu a hniam hle. Aldosterone a bo chuan taksain thisena chi (sodium) awm zat a thunun thei lo. Hei hian sodium tam lutuk chu zun-ah a paih chhuak thin. Hei bakah hian cortisol pawh a chhuak tlem hle a, mahse androgens erawh a siam tam zawk thung.
• Simple-virilizing CAH: Hei hi CAH chi khat a ni lo zawk . Hetiang a nih chuan aldosterone tlakchhamna hi chutiang chuan a na lo. Chuvangin nunna atana hlauhawm symptoms a awm lo. Mahse, cortisol siam chhuah a tlem a, androgen siam a tam zawk. Hetianga androgen siam tam lutuk hian mipat hmeichhiatna lama hmasawnna nena inzawm symptom a thlen thei a ni.

2. Nonclassic CAH: Hei hi CAH chi hrang hrang zinga mildest ber a ni. Naupan lai emaw, tleirawl lai emaw, puitling emaw a lo lang tlangpui. Symptoms a awm thei a, a awm lo thei bawk. Hei hi androgen siam tam lutuk vang pawh a ni thei a, chu chuan mipat hmeichhiatna lama hmasawnna nena inzawm symptoms a thlen thei bawk.

Heng chi lian ber berte bakah hian CAH chi dang hmuh tur awm lo engemaw zat a awm a, pakhatin symptom hrang hrang a nei a ni.

Tuin nge CAH dawng thei ang? Engtiang chiahin nge a hluar?

Hetiang dinhmun ``(CAH)`` an tih hi tu pawhah a lo awm thei. Chumi awmzia chu naute, naupang, puitling, tu pawh a nghawng thei tihna a ni.

America leh Europe ang ramah chuan classic CAH hian mi sang sawm atanga sang sawm leh panga zinga pakhat vel a nghawng a ni. Noclassic CAH hi a tlem deuh a, mi za atanga za hnih zinga pakhat vel a ni. A chi hnih hi khawvel hmun hrang hrangah hmuh tur a awm.

`(CAH)` natna lanchhuahna chu engte nge ni?

CAH natna lan chhuah dan hi a chi leh mipa leh hmeichhia a zirin a danglam thei. Entîr nân, nausen ṭhenkhat chu natna lan chhuahna neiin an piang a, ṭhenkhat erawh chuan an lo upa chhoh zêl chuan natna lan chhuahna an nei ve thung.

Classic CAH natna lan chhuah dan

Classic CAH ah chuan androgen level a sang hle. Hei hian sex hormone nena inzawm symptom a thlen thei a ni. Salt-wasting leh simple-virilizing CAH te hian symptoms a thlen thei a, chungte chu:

• Nausen hmeichhiaah hian ambiguous genitalia: Hei hian naute pawn lam serh chu mipa naute ang maiin a lang thei tihna a ni. Mahse, hmeichhe serh chhungril (Ovary leh uterus ang chi) chu a pangngai a ni.
• Nausen mipaah ​​penis lian zawk.
• Precocious puberty chhinchhiahna: Entirnan, aw inthlak danglam, hmai vun na tak, leh armpits, private area leh hmaiah sam lo sei hmasa te.
• Hmeichhe naupang mipa nihna lo chhuahna: taksa peng hrang hrang lo thanglian, aw thuk zawk, leh hmai sam duh loh zawng lo sei.
• A lo thang chak hle (a tir lamah).
• Menstrual cycle mumal lo.
• Testicular tumor tha lo tak tak a awm.
• Nau pai theih lohna.

Chu bakah, a bik takin salt-wasting CAH vei te tan chuan hormone imbalances hian adrenal symptoms na tak a thlen thei bawk. Hengte hi a hlauhawm hle a, enkawl vat a ngai a ni :

• Tui tlakchhamna (dehydration).
• Thisenah sodium level a tlahniam (Hyponatremia).
• Thisen sang hniam (Hypotension).
• Thinlung thawk mumal lo (Arrhythmia).
• Thisen sugar level hniam (Hypoglycemia).
• Thisenah acidity a sang (Metabolic acidosis).
• Luak chhuak.
• Kawthalo.
• Rihna tihtlem.
• Shock state `(Shock)` tih a ni.

Pawimawh: Heng chi (salt-wasting CAH) chhinchhiahna te hi, a bik takin nausen piang tharte tan chuan emergency a ni. Doctor i pan nghal tur a ni.

Noclassic CAH natna lan chhuah dan

Noclassic CAH hi a na zawk a ni. I nei tih pawh i hre lo mai thei. A lan chhuah dan chu a na zawk tlangpui a, mahse:

• A lo thang chak hle (a tir lamah).
• Acne a awm.
• Precocious puberty (a puitlin hma) a ni.
• Hmeichhia hmai emaw taksaah duh loh zawnga sam sei.
• Menstrual cycle mumal lo.
• Nau pai theih lohna.
• Mipa pattern baldness (a hma deuh).
• Mipa hian penis lian tak nei mahse testicles te tak te an nei thung.

Eng thilin nge `(CAH)` a thlen?

A tam zawkah chuan CAH thlentu ber chu enzyme 21-hydroxylase tlakchham leh awm loh vang a ni. Genetic mutations hian he enzyme level hi a nghawng a ni. A tlem berah chuan enzyme 11-hydroxylase tlakchhamna hian CAH a thlen thei bawk.

CAH hi autosomal recessive disorder a ni a . Chu chu eng nge a awmzia i hria em? Gene pakhat zel copy pahnih kan hmu a - pakhat chu kan nu hnen atangin leh pakhat chu kan pa hnen atangin. CAH hi naupangin nu leh pa pahnih atanga he enzyme tlakchhamna thlentu gene copy a rochun chauhvin a thleng thin. Miin mutated gene pakhat chauh a neih chuan natna carrier ni mahse symptoms a lantir lo thei.

Engtin nge doctor-te hian `(CAH)` natna hi an diagnose (diagnose)?

Classic `(Classic CAH)` tih a ni

I naute chu damdawi in atanga a haw hmain doctor-te chuan naute chu ``(CAH)'' a awm leh awm loh an enfiah ang. Hei hi thil pangngai a ni.Nausen piang thar screening test-a tel ve, hei hi naute kekawr atanga thisen tlemte lak chhuahna hmanga tih a ni. Hei hian classic CAH i neih leh neih loh a hril thei.

Naupai i nih a, CAH vei naupang i neih tawh chuan naupai laiin prenatal genetic testing i nei thei ang . I doctor chuan amniocentesis (i pum chhunga tui test) emaw, chorionic villus sampling (nausen piece pakhat test) emaw hmangin CAH i nei em tih a enfiah thei ang.

CAH ni lo

Nonclassic CAH hi nangmah emaw i fain emaw symptoms a lan tan hnuah a ni tlangpui. A châng chuan, puitlingah pawh a thleng thei bawk. I doctor chuan a natna chu a hriat theih nan a hnuaia mi ang hian a ti ang:

• Taksa enfiahna a ni.
• Thisen test a ni.
• Zun test a ni.
• Genetic testing neih a ni.

CAH hi engtin nge enkawl a nih?

CAH enkawl dan hi a natna lan chhuah dan chi leh a nasat danah a innghat a ni. CAH damdawi a awm lo. Mahse, damdawi leh enkawlna dangte hian natna lan chhuahna control-na leh nun hrisel tak a neih theih nan a pui thei a ni.

Classic CAH enkawlna a ni

I doctor chuan i dinhmun a enfiah fo ang. I hormone level enfiah nan thisen test mumal tak an nei ang. Enkawlna tum ber chu an than dan pangngai leh mipat hmeichhiatna lama hmasawnna tur a ni.

I doctor chuan i natna lan chhuah dan enkawlna atan hetiang damdawi hi a pe thei ang:

• Salt supplement: Nausen piang tharte hian sodium chloride supplement (a bik takin salt-wasting formula) an mamawh thei.
• Glucocorticoids: Hengte hian taksain a siam chhuah loh hormone cortisol thlakin hna an thawk a ni. I damloh emaw, i lungngaih emaw, i rilru hah emaw lai pawhin he damdawi hi i tihpun a ngai mai thei.
• Mineralocorticoids: Hengte hi taksain a siam chhuah loh hormone aldosterone thlak nan hman a ni.

Classic CAH i neih chuan heng damdawi te hi i dam chhung zawng nitin i ei a ngai a ni. Damdawi i ei tawh loh chuan i natna lan chhuah dan chu a lo let leh ang.

Enkawlna dang chu naute hmeichhia, serh inang lo (ambiguous genitalia) nei te tan surgery a ni. He surgery hi nau piang atanga thla hnih atanga thla ruk chhungin tih theih a ni a, chu chuan pawn lam mipat hmeichhiatna a lan dan leh a hnathawh dan a siam tha leh thei a ni. A then phei chuan surgery hi kum engemawzat a tikhawtlai thei bawk. Hei hi thutlukna siam hmain doctor nen uluk takin sawipui hmasa phawt tur a ni.

Nonclassic CAH enkawlna a ni

Symptoms i neih loh chuan enkawlna i mamawh lo mai thei. Symptoms na lo tak tak i neih chuan glucocorticoids dose tlemte pek i ni thei bawk. Heng mite hian dam chhung enkawlna an mamawh lo tlangpui.

Nang emaw i fa emaw hian CAH i nei a nih chuan rilru lam enkawlna zawn a pawimawh hle. Hei hi a chhan chu he natna nena inzawm thil leh harsatna tam tak (taksa inthlak danglamna, nau pai theih lohna, etc.) te hian rilru lam nghawng a nei thei a ni. Chuvangin, rilru lam hriselna puihna hi CAH enkawlna atana thil pawimawh tak a ni. Nunphung a tichangtlung thei a ni.

CAH avanga harsatna awm thei te chu engte nge ni?

Classic CAH-ah chuan a bik takin chi (salt-wasting type)-ah chuan tui leh chi tam lutuk chu zun-ah a bo vek a ni. Hei hian harsatna lian tak tak, electrolyte (e.g. potassium) imbalances te a thlen thei a ni . Enkawl loh chuan heng inthlauhna te hian:

• Thinlung thawk mumal lo (Arrhythmia).
• Lung natna (Cardiac arrest) a awm.
• Thihna pawh a thleng thei.

Nonclassic CAH enkawl loh pawhin harsatna a thlen thei bawk. Mipa tan chuan:

• Puitling hma lam.
• A san zawng tawi (a san zawng tlahniam).

Hmeichhia tan chuan:

• Mipa taksa pianphung nghet tak tak.
• Thlasik mumal lo.
• Nau pai theih lohna.

Tin, mipat hmeichhiatna (ambiguous genitalia) surgery tih avanga harsatna thenkhat (infection, thisen chhuah, leh scarring ang chi) a awm theihna a awm bawk.

`(CAH)` hi ven theih a ni em?

CAH hi genetic condition a nih avangin ven theih a ni lo. I chhungkuaa mi pakhatin CAH a vei a nih chuan, emaw, CAH vei fa i neih tawh chuan, genetic counseling leh/ emaw genetic testing ngaihtuah rawh . Hei hian i fate’n he natna hi an rochun theihna tur hlauhawmzia i hriatthiam theih nan a pui ang che.

`(CAH)` enkawl hnua dinhmun chu engtin nge a awm?

A hmaa hriatchhuah a nih a, uluk taka enkawl a nih chuan CAH vei te hian nun hrisel, rahbi thar an nei thei a ni. Classic CAH vei te hian an dam chhung zawng nitin damdawi an ei a ngai dawn a ni. Damdawi ei khap a nih chuan symptoms a lo lang leh thei.

CAH vei tam zawk hi an hriselna a tha a, mahse puitling dang aiin an tawi zawk mai thei. A then phei chuan CAH hian nau neih theihna a nghawng thei a ni. Genitalia ambiguous neia piang i nih chuan psychological support i mamawh mai thei. Inenkawl hnua harsatna i neih chuan i doctor biak pawh hlau suh.

Engtin nge `(CAH)` hmang hian taksa rihna tihtlem theih ang?

CAH enkawlna atana hman damdawi thenkhat (a bik takin glucocorticoids) hian taksa rihna a tipung thei a ni. I doctor nen i rihna chungchang sawipui rawh. A taksa rihna a san chhan chu damdawi emaw, damdawi lam thil dang vang emaw a nih leh nih loh a hre thei a ni. I damdawi ei tur zat pawh siam danglam a ngai mai thei. Tin, i taksa rihna hrisel tak i neih theih nan diet leh exercise plan siam turin a pui thei bawk che.

`(CAH)` hi rualbanlo a ni em?

Pawl thenkhat chuan adrenal gland natna hi chak lohnaah an ngai mai thei. CAH hian rualbanlo anga a tlin leh tlin loh chu chu natna bik atanga harsatna lo awmte a\angin a innghat a ni.

A tawp berah chuan thil hriat reng tur (Take-Home Message) .

I fa hian genetic condition a nei tih i hriat chuan i rilru a buai tih hi thil pangngai tak a ni. Mahse, naupang Congenital Adrenal Hyperplasia (CAH) vei piangte chuan he natna hi an hriat hmasak a, uluk taka enkawl a nih chuan hmalam hun tha zawk an nei thei a ni.

Hengte hi hre reng ang che:

• (CAH) hi genetic condition a ni a, adrenal glands-a hormone siam chhuahna a tichhe thei a ni.
• Classic CAH hi a na ber chi a ni a, nau piang thar screening hmanga hriat theih a ni.
• A hmaa hriatchhuah leh dam chhung damdawi (classic CAH tan) hi a pawimawh hle.
• Enkawlna hian natna lan chhuah dan a thunun thei a, a than dan pangngai leh a than dan pangngai a siam thei bawk.
• Mi thenkhat chuan rilru lam hriselna lama tanpuina leh counseling an mamawh mai thei.
• Naupai i tum a, chhungkaw history-ah CAH i vei a nih chuan i doctor nen genetic counseling chungchang sawipui rawh.

Lungngai suh, nangmah chauh i ni lo. `(CAH)` chungchanga zawhna dang i neih chuan doctor zawt rawh. An pui thei che a ni.

` Congenital Adrenal Hyperplasia, CAH, Adrenal glands, Cortisol, Aldosterone, Androgen, Hormone inthlauhna, Genetic disorder, Nausen piang thar screening, Hormone, Genetic natna, Adrenal glands