I fate lo thanglian zel tur chu i ngaihtuah em? Russell-Silver Syndrome chungchang hi i zir dawn teh ang!

I naute than chhoh dan hi tlem a zawi deuh niin i hria ngai em? A nih loh leh doctor-te chuan naute chu pian tirh laia rit hniam tak neia piang emaw, mizia danglam tak nei emaw an ti em? A châng chuan, hetiang thil hian nu leh pa angin min ti buai hle thei a. Vawiin hian chutiang dinhmun tlemte, mahse hriat tur pawimawh tak pakhat chu kan sawi dawn a ni. Chu chu Russell-Silver Syndrome a ni.

Tuin nge he natna hi vei thei ang? Engtiang chiahin nge a hluar?

Dik tak chuan Russell-Silver syndrome hian naupang tu pawh a nghawng thei a ni. Hmeichhia leh mipa te pawh a nghawng vek a ni. Mahse, genetic disorder hmuh tur awm lo tak a ni . Statistically chuan nau piang 15,000 zinga pakhat vel atanga 100,000 zinga pakhat vel a nghawng a ni. Number dik tak sawi a harsa a, a chhan chu a chang chuan he natna lan chhuah dan hi hmasawnna lama harsatna dang nen a inang a, a chang chuan hriat lohvin a awm thin.

Hetiang dinhmun hi kum 1953 khan Dr. Henry Silver-a’n a hmuchhuak hmasa ber a ni. Tichuan kum 1954 khan Dr. Alexander Russell-a chuan thil chi hrang hrang a hmuchhuak leh ta a ni. A tirah chuan kum 20 vel zet chu zirchiangtute chuan heng mi pahnih hian natna chi hrang hrang pahnih an hmuchhuak niin an ngai a. A hnuah chuan natna pakhat lam hawi chi hrang hrang an hmu tih an hrechhuak ta a ni. Chuvang chuan tunah chuan Russell-Silver syndrome an ti ta a ni. Ram thenkhatah, a bikin Europe-ah chuan Silver-Russell syndrome an ti bawk.

Russell-Silver syndrome natna lan chhuah dan chu engte nge ni?

Hei hi a pawimawh ber a ni. Naupang tinah natna lan chhuah dan a inang lo thei hle . Tin, taksa peng hrang hrang an nghawng thei bawk. A lan chhuah dan ber chu eng nge ni tih i lo en ang u.

Hmasawnna nena inzawm mizia

Heng naupangte hmasawnna kawngah hian mizia bik engemaw zat hmuh tur a awm a:

• Intrauterine growth restriction (IUGR): Chumi awmzia chu naute chu a pum chhunga a awm laiin beisei angin a thang lo tihna a ni.
• Nau piang rihna hniam : Nau piang laia rihna pangngai aia tlem.
• Nau piang hnua thanglian loh leh taksa rihna sang lo : Hei hi nu tam tak tan pawh harsatna a ni.
• Short stature : Kum inang naupang dang aiin a tawi zawk.

Luruh leh hmai lam hawi

Thil danglam bik thenkhat chu heng naupangte hmel pianzia leh lu lian leh teah hian hmuh tur a awm bawk:

• Taksa dang nena khaikhin chuan lu lian tak neih (a san zawng leh a rih zawng nena khaikhin chuan).
• Fontanelle emaw lu chunga hmun nem tak chu khar nan hun a duh a ni.
• Hmel pathum ang maia awm .
• Hmai hmalam pan chhuak .
• A chin tawi tak a ni .
• A hmui te tak te `(micrognathia)`.
• Kawngkhar kilte chu a hnuai lam hawiin a lang .

Ha lam harsatna a awm

Ha nena inzawm harsatna engemaw zat a awm thei bawk:

• Ha thenkhat hloh (hypodontia).
• Ha te tak te (microdontia) danglam tak nei.
• Ha lam hawia mipui tam lutuk .
• A châng chuan cleft palate ang chi condition a awm ṭhin.

Taksa mizia dangte

Taksa pianphung dang engemaw zat a awm a, chungte chu:

• A sir lehlamah kut leh ke sei zawng inang lo (hemihypertrophy).
• Kut zungtang te tak te chu chhung lam hawiin (clinodactyly) a ben a .
• Scoliosis natna a ni .

Russell-Silver syndrome avanga harsatna awm thei te chu engte nge ni?

Russell-Silver syndrome hian taksa lama nghawng a neih dan hriat a pawimawh a, hei hian i fate hriselna lama harsatna hrang hrang a thlen thei a ni.

Ei leh in lama harsatna

• Ei duhna : Naupangin ei duhna a hloh thei.
• Chronic acid reflux (GERD - Gastroesophageal Reflux Disease): Chumi awmzia chu pum acid chu kawr chhungah a luang chho tihna a ni.
• Esophagitis : He natna (GERD) hian chaw kawng a ti na a.

Nerve hmasawnna nena inzawm harsatna

• Developmental delay : Hei hian rolling over, thut, leh kal ang chi thilte chu a tlai tihna a ni.
• Thusawi tihkhawtlai .
• Zirna inthlauhna : Sikul hnathawhnaah harsatna engemaw zat a awm thei.

Harsatna dang a awm bawk

• Growth tihkhawtlai a ni .
• Kal harsa emaw balance vawn reng emaw .
• Thisen sugar level hniam (hypoglycemia).
• Kidney lama harsatna nei .
• Reproductive system leh urinary system lama harsatna awm .

Russell-Silver syndrome hian puitlingte chu engtin nge a nghawng?

Russell-Silver syndrome vei puitlingte chu an tawi tlangpui . Mipa hi feet 4 leh inches 11 vel a sang an ni tlangpui. Hmeichhia hi feet 4 leh inches 7 vel a sang an ni.

Tin, zirchianna atanga a lan dan chuan heng mite hi an upat deuh deuh chuan hriselna lama harsatna thar an neih theihna tur a ni. Chung zingah chuan:

• Metabolic syndrome a ni a .
• Muscle mass tlahniam .
• Ruh density tlahniam .
• Mipat hmeichhiatna lama duhna tlahniam (hypogonadism).
• Testicular cancer a ni a .
• Myoclonus dystonia : Hei hi a natna a ni a, rang taka, thunun theih loha chetna a thlen thin.

Eng thilin nge he natna hi a thlen?

Russell-Silver syndrome hi a takah chuan natna khirh tak a ni . Taksa thanna thununtu gene thenkhata thil dik lo awm vang a ni.Tunah hian he natna vei zinga 60% vel hi chromosome 7 emaw 11 emaw a genetic change avanga lo awm an ni tih hriat a ni.

Mahse, mak tak maiin, clinically-a he natna vei nia hriat zinga 40% vel chuan genetic cause hriat theih an nei lo. He natna hi chromosome 7 leh 11 ni lo chromosome dang inthlak danglamna avanga lo awm a ni thei a, zirchiangtute chuan he natna hi eng genetic change dang nge inrawlh thei tih an la chhui mek a ni.

Engtin nge diagnosis hi siam a nih?

Russell-Silver syndrome hi a chang chuan hriat a harsa thei hle . Sawi tawh ang khan naupang tinah hian natna lan chhuah dan leh a nasat dan hi a inang lo hle. Amaherawhchu, i fa doctor-in a taksa a enfiah hmasa phawt ang. Molecular genetic testing pawh a rawt thei bawk . He genetic testing hian case 60% velin a diagnosis hi a nemnghet thei a ni.

Russell-Silver syndrome hi engtin nge enkawl a nih?

He natna enkawl dan hi naupang hrang hrangah a inang lo. A natna lan chhuah dan leh a nasat danah a innghat. A pawimawh ber chu a rang thei ang bera enkawl tan hi a ni . Hei hi i fain a rah chhuah tha ber a neih hun tur a ni. Specialist team chuan i naute chu an enkawl ang. He team hian:

• I naute naupang enkawltu doctor .
• Naupang hmasawnna lam doctor pakhat .
• Ruh lam thiam tak a ni .
• Endocrinologist hi doctor a ni a , endocrine glands leh hormones lam a thiam hle a ni .
• Doctor, chaw ei leh in lama tui (gastroenterologist) a ni.
• Ei leh in lama mithiam .
• Neurologist pakhat chuan .
• Ha lam thiam tak a ni .
• Thusawi hmanga enkawltu .
• Psychologist pakhat chuan .
• Genetic counselor leh geneticist a ni a .

Naupang dinhmun a zirin enkawlna kawng hrang hrang siam a ni:

Hmasawn theihna tura enkawlna

Naupang kum hnih hmasa bera enkawlna pawimawh ber chu nutritional support a ni . Doctor-te chuan naupang hian calorie dik tak a dawng em tih an enfiah ang. A tul chuan hemi atan hian feeding tube hman theih a ni:

• Nasogastric tube : Hemiah hian naute hnar, chaw kawng, leh pum chhungah tube te tak te a kal tlang a.
• A gastrostomy tube : Hemiah hian naute pum bangah incision te tak te siamin tube chu direct-in a pum chhungah dah a ni.

Growth hormone hmanga enkawlna (GH therapy): 1.1.

Hetiang enkawlna hmang hian:

• Naupang taksa insiam dan, motor thanna, leh ei duhna a titha.
• Thisen sugar level hniam (hypoglycemia) awm theihna a ti tlem .
• Hmasawnna a tipung .

Ei leh in lama harsatna awmte enkawlna

Acid reflux hi a hnuaia mi ang hian enkawl theih a ni.

• Chaw ei fo, tê tê pe .
• Naute chaw pek laiin dinglam hawia vawn .
• Damdawi: H2 blockers , acid siam chhuah tihtlemtu, leh damdawi chak zawk, proton pump inhibitors , ei tur kawng chhunga ulcer tidam thei bawk.
• Fundoplication : Hei hi surgery hmanga naute chaw kawng leh pum inkar valve (sphincter) tichaktu a ni.

Thisen sugar level hniam (Hypoglycemia) enkawl dan .

Hei hi a hnuaia mi ang hian enkawl theih a ni:

• Chaw pek fo thin .
• Dietary supplement te pawh a awm bawk .
• Chaw ei tur complex carbohydrates awmna .

Ha lama harsatna nei enkawlna

I fa ha chungchanga harsatna awmte siamthat nan ha enkawlna hrang hrang, brace emaw oral surgery emaw a ngai mai thei.

Complication dang enkawlna

A châng chuan special braces emaw pheikhawk emaw hian kea kal leh balance a ti ṭha thei bawk. Limb asymmetry siamthat nan operation neih a ngai lo.

Engtin nge symptoms te hi kan enkawl ang?

Damdawi bakah hian i naute doctor chuan enkawlna dang engemaw zat a rawt thei bawk. Chung zingah chuan:

• Psychosocial therapy : Psychosocial therapist (social worker) te hian rilru lam hriselna tanpuina an pe thin. Naupangin mahni inngaihhlutna, a rualpui inlaichinna leh khawtlang nun nena inzawm harsatnate chu an pui thin.
• Genetic counseling : Genetic counselor te hian i naute natna hmuhchhuah chu an nemnghet thei a, nang leh i chhungte hnenah thurawn tul tak tak an pe thei bawk.
• Physical therapy : Physical therapist te hian taksa exercise hmangin naupang taksa ruh leh ruh te chu an tizau a, an tichak bawk.
• Occupational therapy : Occupational therapist te hian fine motor skills, visual perception, cognitive reasoning, leh sensory processing te ang chi thilah an pui thin.
• Speech therapy : Speech therapist te hian thusawi, tawng, inbiakpawhna bakah ei leh in leh ei leh in lama harsatna awmte chu an pui thin.

Engtin nge ka fain Russell-Silver syndrome a vei theihna tur chu ka tihziaawm theih ang?

Russell-Silver syndrome hi genetic change avanga lo awm a ni.. Chuvangin he dinhmun hi ven theih a ni lo. Naupai i tum a, naute genetic condition nei i neih theih dan tur i hriatthiam duh chuan i doctor nen preconception genetic testing chungchang sawipui rawh

Ka fa hian Russell-Silver syndrome a vei a nih chuan eng nge ka beisei ang?

Russell-Silver syndrome hi dam chhung zawnga natna a ni . Mahse, nunna atana hlauhawm side effect a nei lo. I fa hmalam hun tur chu positive takin i sawi thei a ni. Mahse a natna hmuhchhuah leh enkawl danah a innghat. I naute hian damdawi lam pan vat a ngai ang a, enkawl zui nghal a ngai bawk ang. A hma leh hlawhtling taka enkawl a nih chuan i naute chu nun pangngaiin a nung thei a ni .

Russell-Silver syndrome leh Silver syndrome hi eng nge an danglamna?

An pahnih hian gene inthlak danglamna avanga genetic condition awm lo tak an ni. Mahse, Silver syndrome hi BSCL2 gene a inthlak vang a ni . Silver syndrome hi genetic disorder a ni a, taksa ruh (muscle stiffness) (spasticity) leh ke hnuai lam paralysis (paraplegia) a thlen thin. Silver syndrome symptoms hi naupan lai atanga tan a ni tlangpui . Mi an lo upat deuh deuh chuan symptoms hi a na zual thei a, mahse he natna vei te hian active life an hmang thei tlangpui.

Russell-Silver syndrome nia hriat chhuah hriat chu a buaithlak thei hle. Mahse, hriat reng tur pawimawh tak chu hetiang natna neia piang naupangte tan chuan thlirna a tha tlangpui. A hmaa hmuhchhuah leh enkawl a nih chuan Russell-Silver syndrome hi nunna atana hlauhawm a ni lo. Specialist doctor team chuan nang leh i fate chu nun pangngai, hrisel tak an neih theih nan an thawk ho ang.

Chuti a nih chuan, he thawnthu atang hian eng thil nge kan hriat reng tur? (In lama hruai tur thuchah)

Okay, tunah chuan kan sawi tawh Russell-Silver Syndrome kha i hrethiam tawh ngei ka beisei. Hetiang dinhmun i hriat hian lungkhamna i neih hi thil pangngai a ni. Mahse, a pawimawh ber chu hlauthawng lova, thu dik tak hriat a, a tul anga hmalak hi a ni.

• Russell-Silver syndrome hi genetic condition hmuh tur awm lo tak a ni a, naupang pian hma leh nau pian hnuah a tichhe nasa hle.
• Naupang tinah natna lan chhuah dan a inang lo va, chuvangin i fate hmasawnna emaw, a hmel lan dan emaw chungchangah harsatna i neih chuan damdawi lam thurawn lak a pawimawh hle.
• Naupang tan chuan a hmaa hriatchhuah leh enkawl dan tur dik tak tan hi a tha ber. Hei hian specialist hrang hrangte puihna a ngai a ni.
• Hetiang dinhmun hi dam chhung zawngin awm reng mah se, nunna atana hlauhawm a ni lo. Enkawlna dik a awm chuan naupang chuan nun pangngai a nei thei a ni.
• Nangmah chauh i ni lo. Hetiang dinhmunah hian nang leh i fate tanpui theitu doctor, counselor, therapist ang chi mi tam tak an awm a.

A tawp berah chuan i fa hriselna chungchanga i ngaihtuahna zawng zawng chu doctor nen inbiakna neih hlau suh. Kaihhruaina leh \anpuina dik tak kan neih chuan eng harsatna pawh kan hneh thei a ni.

` Russell-Silver Syndrome, Russell-Silver Syndrome, genetic diseases, nausen thanlenna, nau piang rihna hniam, sei tawi, hmasawnna tlai