Primordial Dwarfism Yog Dab Tsi?

Zoo Siab

• 5 hom thiab lawv cov tsos mob
• Duab
• 1. Microcephalic osteodysplastic primordial dwarfism, hom 1 (MOPD 1)
• 2. Microcephalic osteodysplastic primordial dwarfism, hom 2 (MOPD 2)
• 3. Seckel syndrome
• 4. Russell-Silver syndrome
• 5. Meier-Gorlin syndrome
• Ua rau muaj kev tuag ntawm kev tuag ntsiag to
• Kev kuaj mob ntawm cov kab mob tuag tsis tseem ceeb
• Kev kos duab
• Kev kho mob ntawm primordial dwarfism
• Outlook rau kab mob kev tuag dwarfism

Txheej txheem cej luam

Primordial dwarfism yog ib pawg tsis tshua muaj thiab feem ntau txaus ntshai ntawm cov caj ces uas ua rau lub cev me me thiab lwm qhov kev loj hlob txawv txav. Cov cim ntawm tus mob thawj zaug tshwm sim hauv tus menyuam theem thiab txuas ntxiv los ntawm menyuam yaus, kev hluas, thiab tus neeg laus.

Cov menyuam mos yug tshiab uas muaj lub cev ntaj ntsug ntev tuaj yeem hnyav li 2 phaus thiab ntsuas ntev li 12 nti xwb.

Muaj tsib hom tseem ceeb ntawm primordial dwarfism. Qee yam ntawm cov hom no tuaj yeem ua tus kab mob tuag taus.

Kuj tseem muaj lwm yam hom dwarfism uas tsis yog thawj zaug. Qee hom dwarfism no tuaj yeem kho nrog cov tshuaj hormones loj hlob. Tab sis hom kab mob kev tuag ua ntej yuav tsis teb rau kev kho qog, vim tias nws caj ces.

Tus mob no muaj tsawg heev. Cov kws tshaj lij kwv yees tsis muaj ntau tshaj li ntawm 100 tus mob hauv Tebchaws Meskas thiab Canada. Feem ntau nws yog menyuam yaus nrog niam txiv uas muaj feem caj ces.

5 hom thiab lawv cov tsos mob

Muaj tsib theem pib ntawm hom kab mob kev tuag dordfism. Txhua tus yog tus cwj pwm los ntawm lub cev me me thiab luv stature uas pib thaum ntxov hauv kev loj hlob ntawm tus menyuam.

Duab

1. Microcephalic osteodysplastic primordial dwarfism, hom 1 (MOPD 1)

Cov tib neeg muaj MOPD 1 feem ntau muaj cov hlwb tsis meej, uas ua rau qaug dab peg, ua pa, thiab kev txawj ntse tsis meej pem. Lawv feem ntau tuag thaum yau.

Lwm cov tsos mob muaj xws li:

• luv luv stature
• elongated collarbone
• khoov duav pob txha
• tawg lossis plaub hau
• qhuav thiab nrhiav tawv nqaij

MOPD 1 tseem tseem hu ua Taybi-Linder syndrome.

2. Microcephalic osteodysplastic primordial dwarfism, hom 2 (MOPD 2)

Txawm hais tias tsis tshua muaj qhov dav dav, qhov no yog hom ntau dua ntawm kev ua rau tib neeg ua ntej dua li MOPD 1. Ntxiv rau lub cev me me, cov tib neeg uas muaj MOPD 2 yuav muaj lwm qhov txawv txav, suav nrog:

• muaj koob meej qhov ntswg
• bulging ob lub qhov muag
• cov hniav me me (microdontia) nrog tus txha hniav laus tsis zoo
• squeaky lub suab
• nkhaus qaum (scoliosis)

Lwm cov nta uas tuaj yeem tsim kho nyob rau lub sijhawm suav nrog:

• txawv txav tawv nqaij
• farsightedness
• rog dhau

Qee cov neeg mob MOPD 2 nthuav dav dej ntawm cov hlab ntsha mus rau lub hlwb. Qhov no tuaj yeem ua rau hemorrhage thiab mob hlab ntsha tawg, txawm tias thaum tseem hluas.

MOPD 2 zoo li muaj ntau hauv cov poj niam.

3. Seckel syndrome

Seckel syndrome siv los hu ua noog lub taub hau tsiaj yog vim dab tsi tau pom los ua lub ntsej muag noog zoo li lub taub hau.

Cov tsos mob muaj xws li:

• luv luv stature
• me me taub hau thiab lub hlwb
• lub qhov muag loj
• protruding qhov ntswg
• nqaim ntsej muag
• receding qis dua lub puab tsaig
• receding hauv pliaj
• misformed lub plawv

Kev txawj ntse ntawm kev txawj ntse tuaj yeem tshwm sim, tab sis tsis pom muaj ntau npaum li yuav suav tias yog muab lub hlwb me.

4. Russell-Silver syndrome

Qhov no yog ib daim ntawv ntawm primordial dwarfism uas qee zaum kev kho nrog kev loj hlob cov tshuaj hormones. Cov tsos mob ntawm Russell-Silver syndrome suav nrog:

• luv luv stature
• voos peb lub taub hau zoo nrog lub hauv siab dav thiab lub puab tsaig taw
• lub cev asymmetry, uas tsawg zog nrog lub hnub nyoog
• ib tug ntiv tes los yog ntiv tes (camptodactyly)
• teeb meem tsis pom kev
• teeb meem hais lus, suav nrog nyuaj nyuaj los ua cov lus meej (lus cem) thiab qeeb hais lus

Txawm hais tias me dua li ib txwm, cov neeg muaj tus mob no feem ntau siab dua cov uas muaj MOPD hom 1 thiab 2 lossis Seckel syndrome.

Hom dwarfism uas tseem ceeb tshaj plaws no tseem muaj lub npe hu ua Silver-Russell dwarfism.

5. Meier-Gorlin syndrome

Cov tsos mob ntawm daim ntawv no ntawm hom kab mob kev tuag ua ntej:

• luv luv stature
• pob ntseg hauv pob ntseg (microtia)
• lub taub hau me me (microcephaly)
• ib lub puab tsaig underdeveloped (micrognathia)
• ib qho ploj lawm lossis tab tom raug mob kneecap (patella)

Yuav luag txhua txhua kis ntawm Meier-Gorlin syndrome qhia tias tib neeg tsis tas li, tab sis tsis yog txhua tus pom lub taub hau me me, lub puab tsaig hauv qab, lossis lub hauv caug tsis tuaj.

Lwm lub npe rau Meier-Gorlin syndrome yog pob ntseg, patella, mob qis qis.

Ua rau muaj kev tuag ntawm kev tuag ntsiag to

Txhua yam ntawm hom kab mob kev ua yeeb yam tshwj xeeb tshaj yog tshwm sim los ntawm cov noob hloov. Kev hloov kho cov noob sib txawv ua rau muaj cov xwm txheej sib txawv uas ua rau dordfism primordial.

Feem ntau, tab sis tsis yog txhua tus, cov tib neeg uas muaj kab mob tuag ua qub txeeg qub teg los ntawm leej niam leej txiv. Qhov no hu ua kev kho mob autosomal recessive. Cov niam txiv feem ntau tsis pom tus kab mob lawv tus kheej.

Txawm li cas los xij, feem ntau ntawm cov kab mob tuag ua ntej yog qhov hloov tshiab, yog li cov niam txiv yuav tsis muaj tus gene tiag.

Txog MOPD 2, kev hloov pauv tau tshwm sim hauv cov noob uas tswj cov khoom tsim tawm ntawm cov protein pericentrin. Nws yog lub luag haujlwm rau kev rov tsim thiab koj lub cev hlwb.

Vim tias nws yog qhov teeb meem hauv cov noob uas tswj kev loj hlob ntawm tes, thiab tsis muaj kev tsis txaus ntawm kev loj hlob hormone, kev kho mob nrog kev loj hlob hormone tsis cuam tshuam rau feem ntau ntawm hom kab mob kev tuag. Qhov kev zam tshwjxeeb yog Russell-Silver syndrome.

Kev kuaj mob ntawm cov kab mob tuag tsis tseem ceeb

Primordial dwarfism tuaj yeem nyuaj rau kuaj mob. Qhov no yog vim tias qhov me me thiab lub cev nyhav me me tuaj yeem yog qhov pib ntawm lwm yam, xws li tsis zoo los yog lub cev tsis zoo ntawm lub cev zom zaub mov.

Kev kuaj mob yog ua raws li tsev neeg keeb kwm, tus yam ntxwv ntawm lub cev, thiab ua tib zoo tshuaj xyuas cov xoo hluav taws xob thiab lwm yam duab. Vim tias cov menyuam mos no me thaum yug los, lawv feem ntau tau pw hauv tsev kho mob rau ib lub sijhawm, thiab txheej txheem ntawm kev kuaj mob pib pib.

Cov kws kho mob, xws li kws kho mob hlwb, neonatologist, lossis caj ces, yuav nug koj txog qhov nruab nrab qhov nruab nrab ntawm cov kwv tij, niam txiv, thiab pog yawg kom pab txiav txim seb qhov luv luv yog tsev neeg qhov zoo thiab tsis yog mob li cas. Lawv tseem yuav tau sau tseg qhov siab, qhov hnyav, thiab qhov taub ntawm koj tus menyuam los sib piv cov ntawm no mus rau qhov kev loj hlob ib txwm muaj.

Kev kuaj raws caj ces kuj muaj tam sim no los pab tshawb xyuas qhov tshwj xeeb ntawm hom thawj ntawm tib neeg tsis tseem ceeb.

Kev kos duab

Qee qhov tshwj xeeb tshwj xeeb ntawm kab mob kev tuag ntawm tib neeg feem ntau pom xoo hluav taws xob muaj xws li:

• ncua sij hawm hauv pob txha muaj hnub nyoog ntau npaum li ob txog tsib xyoos
• tsuas yog 11 khub ntawm tus tav es tsis tau li niaj zaus 12
• nqaim thiab thawb pob tw
• nqaim (ua kom dhau) ntawm qhov tob ntawm cov pob txha ntev

Feem ntau, cov cim qhia ntawm dwarfism tuaj yeem kuaj pom thaum lub caij ua ntej cev xeeb tub.

Kev kho mob ntawm primordial dwarfism

Tsuas yog kho kho hormone rau ntawm cov mob ntawm Russell-Silver syndrome, feem ntau cov kev kho yuav tsis kho cov cev nqaij daim tawv luv lossis lub cev nyhav hauv kev ua neeg tsis zoo.

Kev phais qee zaum tuaj yeem pab kho cov teeb meem ntsig txog pob txha tsis sib luag.

Ib hom kev phais hu ua ncua ntev ceg ntev ntev tuaj yeem sim. Qhov no koom nrog ntau cov txheej txheem. Vim tias txoj kev pheej hmoo thiab kev ntxhov siab txuam nrog, cov niam txiv feem ntau tos kom tus me nyuam loj dua ua ntej sim ua.

Outlook rau kab mob kev tuag dwarfism

Primordial dwarfism tuaj yeem mob hnyav, tab sis nws yog qhov tsawg. Tsis yog txhua tus menyuam yaus uas muaj tus mob no yuav nyob rau cov neeg laus. Kev tshuaj xyuas thiab kev mus ntsib kws kho mob tsis tu ncua tuaj yeem pab txheeb xyuas qhov tsis txaus thiab txhim kho koj tus menyuam lub neej zoo.

Cov kev kho tshiab hauv cov noob tshuaj kho cov lus cog tseg tias kev kho mob rau cov kab mob hlwb kab ntsig kev tuag thaum muaj ib hnub yuav muaj.

Kev siv lub sijhawm kom zoo tshaj tuaj yeem txhim kho koj tus menyuam thiab lwm tus hauv koj tsev neeg kom muaj lub dag zog zoo. Xav saib xyuas cov ntaub ntawv kho mob thiab cov khoom siv ntawm dwarfism uas muaj los ntawm Me Neeg Asmeskas.