I fa nail leh khup a danglam em? Nail-Patella Syndrome a ni thei ang em?

I fa tê tê nail emaw, khup emaw-ah danglamna i hmu em? A châng chuan hengte hi Nail-Patella Syndrome an tih, genetic condition chhinchhiahna a ni thei bawk. Hei hi hlauhawm tak angin a lang thei a, mahse lungngai suh. Chipchiar tak leh awlsam takin sawi ila. Hei hian naupang nail, ruh, mit leh kal peng thenkhat hmel leh hnathawh dan a nghawng thei a ni.

Hetiang natna lan chhuah dan hi engte nge ni? Engtin nge i hriat chian?

Nail-Patella Syndrome vei naupang taksa peng thenkhat chu beisei aia a lan dan emaw, hnathawh dan emaw a danglam thei. Heng symptoms te hi eng nge ni tih hi han thlir ila:

Nails a ni

I fa nail chu a tawi hle thei a, a bo pawh a ni thei. Nail-ah pitting, pitting, discoloration i hmu mai thei. Ke ruh aiin kut zungtang hi a nghawng nasa zawk fo . Heng inthlak danglamna te hi kutpui leh kutpui (index finger) ah hian a langsar hle.

Khup (Patella) a ni.

Kneecap, emaw doctor-te'n ``Patella'' an tih chu a te deuh thei a, a pianzia a danglam thei a, a bo thei bawk. A chang chuan he khup hi a tlangpui aia sang deuh emaw, a sir lamah emaw dah theih a ni. Hei hian naupang khup a ti na thei a, a nghet lo hle a, a khup chu a ben tha thei lo emaw, a dinglam thei lo emaw (range of motion) a siam thei bawk. Hetiang dinhmunah hian patella dislocations hi a awm fo thin. Ngaihtuah teh, inkhelh laiin i fa chuan a khup a rawn man nghal a, a tap tan a, a kal thei lo.

Kiu

I fa kuta ruhte chu beisei angin a thang tha lo mai thei. Tin, a chang chuan elbow vel ah vun dang (connective tissue ang chi) i hmu thei bawk. Heng inthlak danglamnate hian kut chu a herh theihna te, a tihzauh theihna te, leh a kekawrte ben theihna te a tikhawtlai thei a ni.

Hip ruh a awm

I fa hian a hip ruh-ah ruh chhuak te te (doctor-te chuan hengte hi `iliac horns` an ti) a nei thei. Hip ruh sir lehlamah an awm tlangpui. A chang chuan naupang vun kaltlangin hriat theih a ni a, mahse a tam zawkah chuan harsatna lian tak an ni lo.

Mit

Naupang mit chhunga pressure a sang thei (ocular hypertension). Hei hi a tawpah chuan glaucoma an tih natnaah a lo chang thei a ni. A tir lamah chuan chhinchhiahna awm lo fo mah se, naupang ṭhenkhat chuan lu na, êng vêla halo, emaw, mit hmuh lohna emaw an nei thei a ni.

Kidney a ni

Nail-Patella syndrome vei mi sawm zinga pali vel chuan kal natna an nei ang a, naupan lai emaw, puitling emaw pawh nise. Hei hi a na lo atanga nunna atana hlauhawm thlengin a awm thei. Kidney natna na lo tak pawh hi a na thei hle a, zawi zawiin emaw, rang takin emaw a ni thei.

Symptom dang a awm bawk

Nail-Patella syndrome vei thenkhat chuan symptom dang an nei thei bawk a, chungte chu:

• Achilles tendon a tight avangin kephah tip chunga kal.
• Kut leh ke ruh (muscle mass) tlahniam.
• Constipation leh/ emaw irritable bowel syndrome te pawh a awm thei.
• Ruh mineral density tlahniam.
• Kut leh kea a chang chuan rilru hahna, tingling emaw, hriatna hloh emaw.
• Ha chak lo emaw, awlsam taka chhe emaw, ha enamel hring emaw.
• Spine curvature pangngai lo (scoliosis) a awm.

Researcher te chuan Nail-Patella syndrome vei zingah heng harsatna te hi engtiang chiahin nge a awm tih chiang takin an la hrethiam reng a ni.

Engvangin nge he nail-patella syndrome hi a lo awm?

A awlsam zawngin sawi ila, Nail-Patella Syndrome hi i fate genes (gene variants) inthlak danglamna avanga lo awm a ni. Most often , heng inthlak danglamna te hi he natna vei te zingah hian LMX1B an tih gene ah hmuh a ni. He LMX1B gene hian naupang chu a pum chhunga a awm laiin a kut, ke, mit leh kal ang chi thil dik taka siam dan tur a hrilh thin a ni.

Heng gene variant te hian LMX1B protein chu beisei angin hna a thawk lo. Chuvang chuan naupang taksa peng hrang hrang chu a pangngaiin a insiam lo va, chu chuan Nail-Patella syndrome symptoms a thlen thin.

Mahse, a tlem hle a, mi thenkhat chuan LMX1B gene-a mutation awm lovin Nail-Patella syndrome symptoms an nei thei a ni. Zirchiangtute chuan gene dang pawh a tel ve mai thei niin an ngai a, an la chhui mek a ni.

He natna hi thlah khat atanga chhuan dangah a kai darh zel em?

Ni e, Nail-Patella Syndrome hi thlah khat atanga thlah dang (``autosomal dominant pattern``-a awm) a ni. Chumi awmzia chu naupangin nu leh pa pakhat atanga he gene variant copy khat a rochun chuan naupang hian he syndrome hi a vei theihna a sang zawk tihna a ni.

A awlsam zawngin Nail-Patella syndrome i neih chuan i fate hian he natna hi an rochun theihna chance 50% an nei a ni. He risk hi naupai apiangin a inang vek a ni. Tin, hmeichhia emaw mipa emaw pawh a pawimawh lo.

Nail-Patella syndrome vei mi sawm zinga 9 vel chuan an nu leh pa pakhatin he natna hi a vei a ni. Mahse, mi sawm zinga pakhat vel chuan chhungte zingah he natna hi an nei lo mai thei. Chumi awmzia chu naupang thenkhat chu an chhungkuaah he syndrome neia piang hmasa ber an ni tihna a ni.

Hei hian eng harsatna dang nge a thlen theih?

Nail-Patella Syndrome hian harsatna engemaw zat a thlen thei. Anni chu:

• I fa khup leh/ emaw elbow-ah osteoarthritis (joint pain) hi beisei aia kum naupang zawkah a lo awm thei a ni.
• Glaucoma hi uluk taka enkawl loh chuan mit hmuh lohna a thlen thei a ni.
• Kidney tha lo a awm.

Nail-Patella syndrome vei thenkhat chuan kal a that loh avangin dialysis emaw, kal thlak emaw an mamawh thei bawk.

Tin, Nail-Patella syndrome vei mi pakhatin nau a pai chuan naupai laiin ``preeclampsia`` tih natna a vei theihna a awm bawk. Doctor-te chuan naupai laiin damdawi an enfiah a, a tul angin an siamrem a, hei hian he hlauhawmna hi a tihziaawm thei a ni.

Engtin nge he natna hi dik taka hriat theih a nih?

Doctor-te chuan he natna hi hriat theih nan heng test zinga pakhat emaw a aia tam emaw an ti ang:

• Taksa enfiah : Nail inthlak danglam leh ruh inthlak danglam ang chi thil zawng rawh.
• Specialized imaging test : X-ray, CT scan, leh MRI hmangin ruh te hi ngun zawkin an enfiah thin.
• Thisen leh/ emaw zun test : Kal hnathawh dan enfiah thin ang che.
• Kidney biopsy : Kidney atanga tissue te tak te lakchhuah a ni a, Nail-Patella syndrome bik tissue inthlak danglamna enfiah a ni.
• Genetic testing : Hei hian gene chi hrang hrang a test thin.

Doctor-te chuan an bia ang che a, i fate chhungkaw medical history an zawt ang che. Entirnan, i chhungte zingah Nail-Patella syndrome emaw, genetic condition dang emaw nei tawh an awm em tih an zawt ang. He information hian diagnosis-ah a pui dawn a ni. Nangmah emaw, chhungkaw member dangte emaw tan pawh genetic test neih an rawt thei bawk.

Nail-Patella syndrome symptoms hi a naupan laiin a lang fo thin. Mahse, mi thenkhatah chuan kum tam tak chhung chu he natna hi hriat lohvin a awm thei a, chu chu a natna lan chhuah dan a nasat em avangin emaw, a lan chhuah dan a langsar vak loh vang emaw pawh a ni thei. Doctor-te chuan naupang leh puitling kum tinah he natna hi an hmuchhuak thei a ni.

Eng ang doctor nge ka fa enkawl ang a, natna hi an hriatchhuah ang?

I fa hian Nail-Patella Syndrome natnain taksa peng hrang hranga a tihbuai doctor team a mamawh mai thei. Entir nan:

• Orthopedist hian ruh lama harsatna neiin a pui thin.
• Nephrologist chuan naupang kal (kidney) hnathawh dan a enfiah thin.
• Mit enkawltu specialist chuan naupang mit a enkawl a.

Nail-patella syndrome hi eng enkawlna nge ni?

Nail-Patella Syndrome hi dam chhung zawnga natna a ni. Damdawi a awm lo. Mahse, symptoms control nan leh complication awm theihna tur tihziaawmna tur enkawlna a awm.

Hei hi enkawlna chi hrang hrang a awm a, i fate chu syndrome-in a nghawng dan azirin enkawlna pakhat aia tam a ngai thei bawk. I fa doctor-te chuan an mamawh dan azirin enkawlna an ruahman ang. Heng mamawhte hi hun kal zelah a danglam thei a ni. Enkawlna awm thei thenkhat chu:

• Physical therapy hmanga kal theihna lama harsatna awmte tanpui.
• Ruh leh ruh natna, thisen sang, emaw mit pressure control na tur damdawi .
• Ruh dik lo, glaucoma, emaw kal natna nasa tak (kidney transplantation pawh tel) control nan operation neih a ni.

I fa doctor-te chuan enkawlna tinte ṭhatna leh ṭhat lohna an hrilhfiah ang che. Naupang genetic condition buaithlak tak enkawl chu thil harsa tak niin a lang thei. Chuvangin zawhna zawt hreh suh la, i ngaihtuahnate pawh sawi chhuak rawh. Chutiang chuan i fa enkawl dan tur chu i inringtawk thei ang.

Hetiang dinhmun hian naupang dam chhung a nghawng dawn em?

Nail-Patella Syndrome hian mi dam rei zawng a nghawng lo tlangpui. Mahse, kal natna na tak a lo awm chuan chu chu a danglam thei a ni. He complication hian prognosis leh mi dam rei zawng a nghawng thei a ni. Mi thenkhat phei chuan kal (kidney transplant) pawh an mamawh mai thei.

Nail-Patella syndrome ang chi genetic condition hian naupang tinte hi a nghawng dan a inang lo deuh a, chuvangin i fain eng symptom nge a neih dawn tih leh engtiang chiahin nge a nasat dawn tih chiang taka sawi a harsa hle. Hemi chungchang hi i fa doctor ten an hrilh belh thei ang che.

Nail-Patella syndrome hi a veng thei ang em?

Tunah hian he genetic condition hi ven dan tur hriat a la ni lo. Nangmah emaw i kawppui emaw hian Nail-Patella Syndrome i nei a, fa neih i tum a nih chuan genetic counselor nen inbiakna neih a tha ang . I fain syndrome a rochun theihna chance hriatthiamna an pe thei che a ni.

Engtikah nge ka fa hian doctor a hmuh ang?

I fa chuan doctor hrang hrang engemaw zat hnenah medical appointment neih fo a ngai mai thei. I fa medical team chuan eng appointment nge mamawh tih leh engzat nge mamawh tih chiang takin an hrilh ang che.

A tlangpuiin, i fa chuan heng thilte hi a enfiah fo a ngai ang:

• Thisen sang enfiah.
• Zun test, `albumin-creatinine level` tehna te pawh a tel.
• Glaucoma screening neih a ni.
• Ruh density test a ni.

Doctor-te chuan heng test pawimawhzia hi i fa hnenah hrilhfiah turin an pui thei che a ni.

I fa rilru hriselna - leh nangmah ngei pawh ngaihven a pawimawh bawk. I fa chu an hmel lan dânah a zak mai thei a, a nih loh leh mahni inrintawkna siam tûra ṭanpuina a mamawh mai thei bawk. An theih ang tawka an awm theih nân eng nge i tih theih tih pawh i ngaihtuah mai thei bawk.

I fa doctor-te nen support group, therapist leh social worker-te nena inzawmna chungchang sawipui rawh. I chhungte puitu nu leh pa leh hriselna lama mithiam tawnhriat ngah tak tak team neih hian nitin nunah danglamna nasa tak a thlen thei a ni.

Nail-patella syndrome hi engtiang chiahin nge a tlem?

Zirchiangtute chuan Nail-Patella Syndrome hian mi 50,000 zinga pakhat vel a vei niin an chhut. Mahse, a tam zawk mai thei a, a chhan chu symptoms na lo tak tak nei te chu hmuhchhuah lohvin an awm thin.

Hei hi hming dang a awm em?

``Fong natna`` tih hi Nail-Patella Syndrome tih hming dang a ni. Tun hma chuan he hming hi hman a ni fo thin. Tunah chuan mi tam takin Nail-Patella Syndrome an ti a.

Chutiang natna hming dang chu ``hereditary onycho-osteodysplasia`` tih a ni. He hming a\anga a \hen tin awmzia hi han en ila:

• ``Hereditary`` tih awmzia chu chhungkuaah hmuh theih a ni.
• ``Onycho`` tih awmzia chu nail tihna a ni.
• ``Osteo`` tih awmzia chu ruh tihna a ni.
• Dysplasia chu taksa peng pakhat a lo thanglian loh emaw, a lo thang lian lo emaw a ni.

Chuti a nih chuan, kan sawi tawh atang hian eng thil nge hriat reng tur pawimawh ber?

I fain a dam chhung zawnga Nail-Patella Syndrome ang chi genetic condition a neih chuan thil a buaithlak deuh thei. I fate dinhmun, an hmalam hun tur i ngaihtuah mai thei. An ṭhanlen theih nân, an ṭhanlen theih nân, leh nun hlim tak an neih theih nân an hnên aṭangin eng nge i mamawh tih pawh i ngaihtuah mai thei bawk. Phurrit lian tak a ni a, mahse nangmah chauhin i phur a ngai lo. I fate mamawh phuhruk dan tur – leh nangmah ngei pawhin a mamawh phuhruk dan tur chungchangah i fa medical team te nen sawiho rawh.

Natna hi a hmaa hriatchhuah leh enkawl dan dik chuan i fa chu nun pangngai leh hrisel tak a neih theih nan kawng thui tak a zawh dawn tih hre reng ang che. Hlauthawng leh hlauthawng suh. A pawimawh ber chu damdawi lam thurawn zawm chungin i fa chu hmangaihna leh hriatthiamna nena enkawl hi a ni.

` Nail-Patella Syndrome, Genetic Diseases, Nail, Khup, Patella, Kal Natna, LMX1B, Fong natna, Naupang hriselna