Chii chinonzi Primordial Dwarfism?

Zvemukati

• 5 mhando uye zviratidzo zvavo
• Mifananidzo
• 1. Microcephalic osteodysplastic primordial dwarfism, mhando 1 (MOPD 1)
• 2. Microcephalic osteodysplastic primordial dwarfism, mhando 2 (MOPD 2)
• 3. Seckel chirwere
• 4. Russell-Silver chirwere
• 5. Meier-Gorlin chirwere
• Zvinokonzera kukura kwepamberi
• Kuongororwa kweakakura kuderera
• Kufungidzira
• Kurapa kwekutanga kuderera
• Maonero ehukuru hwepamberi

Mhedziso

Primordial dwarfism iboka risingawanzo uye rinowanzo kuve nenjodzi remageneti mamiriro ayo anokonzeresa saizi diki yemuviri uye kumwe kukura kusagadzikana. Zviratidzo zvemamiriro acho zvinotanga kuoneka mudanho remucheche uye zvinopfuurira kuburikidza nehucheche, kuyaruka, uye kuva munhu mukuru.

Vacheche vane primordial dwarfism vanogona kuyera zvishoma semaviri mapaundi uye kuyera chete gumi nemaviri inches.

Kune mashanu makuru marudzi eakakomba kuderera. Dzimwe dzerudzi urwu dzinogona kutungamira kuzvirwere zvinouraya.

Kune zvekare mamwe marudzi ehunhu husina kunyanya kukosha. Mimwe yeaya madiki marudzi anogona kurapwa nemahormone ekukura. Asi primordial dwarfism kazhinji haina kupindura kurapwa kwehormone, nekuti iri geni.

Mamiriro acho haana kujairika. Nyanzvi dzinofungidzira kuti hapana kana anodarika zana kesi muUnited States neCanada. Izvo zvinowanzoitika kuvana vane vabereki vane hukama hwehukama.

5 mhando uye zviratidzo zvavo

Iko kune mashanu ezvinyorwa zvemhando dzepamberi diki. Zvese zvinoonekwa nehukuru hwemuviri uye hupfupi hunotanga kutanga mukukura kwechi "fetus".

Mifananidzo

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

Vanhu vane MOPD 1 vanowanzove nehuropi husina kusimukira, hunotungamira mukugwinha, kufema, uye kugona kwekuvandudza kwehungwaru. Ivo vanowanzofa vachiri vadiki.

Zvimwe zviratidzo zvinosanganisira:

• mupfupi
• yakarembera collarbone
• rakakombama chidya pfupa
• shoma kana kusipo bvudzi
• rakaoma uye rinotaridzika ganda

MOPD 1 inonzi zvakare Taybi-Linder syndrome.

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

Kunyangwe isingawanzo kuverengeka, iyi iri mhando yakajairika yehukuru hwepamoyo kupfuura MOPD 1. Pamusoro pehukuru hudiki hwemuviri, vanhu vane MOPD 2 vanogona kunge vaine zvimwe zvisina kujairika, zvinosanganisira:

• mhino yakatanhamara
• maziso anobuda
• mazino madiki (microdontia) ane murombo enamel
• izwi rinonzwika
• musana wakakombama (scoliosis)

Zvimwe zvinhu zvinogona kukura nekufamba kwenguva zvinosanganisira:

• isina kujairika ganda pigmentation
• kuona zviri kure
• kufutisa

Vamwe vanhu vane MOPD 2 vanogadzira kuwedzeredza kwetsinga dzinoendesa kuuropi. Izvi zvinogona kukonzera kubuda ropa uye kurohwa, kunyangwe pazera diki.

MOPD 2 inoita kunge yakajairika muvakadzi.

3. Seckel chirwere

Seckel syndrome yaimbodaidzwa kunzi shiri-musoro wakadzikira nekuda kweiyo yaifungidzirwa kunge yakaita kunge shiri yemusoro.

Zviratidzo zvinosanganisira:

• mupfupi
• musoro mudiki uye huropi
• maziso makuru
• kubuda mhino
• kumeso kwakamanikana
• kuregedza rushaya rwepazasi
• kudzora huma
• mwoyo wakaremara

Intellectual developmental disorder inogona kuitika, asi haina kujairika sezvingafungidzirwa kupihwa huropi hudiki.

4. Russell-Silver chirwere

Iyi ndiyo imwe yemhando yepamusoro yekufungisisa iyo dzimwe nguva inopindura pakurapwa nemahomoni ekukura. Zviratidzo zveRussell-Silver syndrome zvinosanganisira:

• mupfupi
• chimiro chemutatu chakapetwa nehuma yakafara uye chirebvu chakanongedzwa
• muviri asymmetry, iyo inoderera nezera
• munwe wakakotama kana minwe (camptodactyly)
• matambudziko ekuona
• matambudziko ekutaura, kusanganisira kunetseka kuumba mazwi akajeka (verbal dyspraxia) uye kunonoka kutaura

Kunyangwe iri diki pane zvakajairwa, vanhu vane chirwere ichi vanowanzo kureba kupfuura avo vane MOPD mhando 1 uye 2 kana Seckel syndrome.

Rudzi urwu rwekutanga kuderera kunzi inozivikanwa seSilver-Russell kuderera.

5. Meier-Gorlin chirwere

Zviratidzo zveichi chimiro chekutanga kuderera kunosanganisira:

• mupfupi
• nzeve isina kusimukira (microtia)
• musoro mudiki (microcephaly)
• shaya isina kusimukira (micrognathia)
• kneecap inoshaya kana isina kusimukira (patella)

Anenge zviitiko zvese zveMeier-Gorlin syndrome zvinoratidza kuderera, asi havazi vese vanoratidza musoro mudiki, shaya isina kusimukira, kana kneecap isipo.

Rimwe zita reMeier-Gorlin syndrome nzeve, patella, pfupi stature syndrome.

Zvinokonzera kukura kwepamberi

Mhando dzese dzediki dzenhando dzinokonzerwa nekuchinja kwemajini. Mhando dzakasiyana dzekuchinja kwemajini dzinokonzeresa mamiriro akasiyana anoita echinyakare kuderera.

Muzviitiko zvakawanda, asi kwete vese, vanhu vane hushoma hwekuremerwa vanowana nhaka yekuchinja kubva kumubereki mumwe nemumwe. Izvi zvinodaidzwa kuti autosomal yakawandisa mamiriro. Vabereki havawanzo kuratidza chirwere ivo pachavo.

Nekudaro, zviitiko zvakawanda zvehukuru hwekushomeka shanduko nyowani, saka vabereki vanogona kunge vasina gene.

Kune MOPD 2, shanduko inoitika mune geni rinodzora kugadzirwa kweproteinic pericentrin. Ndiro rinokonzera kubereka nekusimudzira kwemasero emuviri wako.

Nekuti idambudziko mumagen'a anodzora kukura kwemasero, uye kwete kushomeka kwekukura kwehomoni, kurapwa nehormone yekukura hakukanganise mhando zhinji dzepamberi diki. Iyo yega ndeye Russell-Silver syndrome.

Kuongororwa kweakakura kuderera

Primordial dwarfism inogona kunge yakaoma kuongorora. Izvi zvinodaro nekuti saizi diki uye huremu hwehuremu hwemuviri hunogona kuve chiratidzo chezvimwe zvinhu, senge kushomeka kwekudya zvinovaka muviri kana kusagadzikana kwemagetsi

Kuongororwa kunoenderana nenhoroondo yemhuri, hunhu, uye kunyatsoongorora maX-ray uye kumwe kufungidzira. Sezvo ava vacheche vari vashoma kwazvo pakuzvarwa, vanowanzoiswa muchipatara kwenguva, uye nzira yekutsvaga kuongororwa inotanga ipapo.

Vanachiremba, senge chiremba wevana, neonatologist, kana geneticist, vanokubvunza nezve avhareji kureba kwehama, vabereki, nasekuru nasekuru kuti vabatsire kuona kana hupfupi hunhu hwemhuri uye kwete chirwere. Ivo zvakare vanochengeta zvinyorwa zvehurefu, huremu, uye kutenderera kwemusoro kwemwana wako kuti aenzanise izvi neyakajairika nzira yekukura.

Genetic kuyedza zvakare yave kuwanikwa kubatsira kusimbisa iyo chaiyo mhando yepamberi diki diki.

Kufungidzira

Humwe hunhu hwakakosha hwehukuru hwepadiki hunowanzoonekwa pama X-ray hunosanganisira:

• kunonoka muzera remapfupa neanosvika makore maviri kusvika mashanu
• 11 chete mbabvu dzembabvu panzvimbo peyakajairika gumi nemaviri
• chiuno chakatetepa uye chakatsetseka
• kudzikira (kupfuudza) kweiyo shaft yemapfupa marefu

Kazhinji yenguva, zviratidzo zvekushomeka zvinogona kuonekwa panguva yekuzvarwa ultrasound.

Kurapa kwekutanga kuderera

Kunze kwekurapwa kwehormone mune kesi dzeRussel-Silver syndrome, marapirwo mazhinji haazobate hupfupi kana huremu hwakaderera mumuviri wepamberi.

Kuvhiya dzimwe nguva kunogona kubatsira kubata matambudziko ane chekuita nekusaenzana kwemapfupa kukura.

Rudzi rwekuvhiya runodaidzwa kuti hurebvu hwakareba uye hwakareba hunogona kuyedzwa. Izvi zvinosanganisira maitiro mazhinji. Nekuda kwenjodzi nekushushikana kunowanikwa, vabereki vanowanzo mirira kusvikira mwana akura vasati vayedza.

Maonero ehukuru hwepamberi

Primordial dwarfism inogona kuve yakakomba, asi iri kashoma. Havasi vese vana vane chirwere ichi vanorarama kusvika pakuva vanhu vakuru. Kugara uchitarisa uye kushanya kuna chiremba kunogona kubatsira kuona matambudziko uye nekuvandudza hupenyu hwemwana wako.

Kufambira mberi mune zvekurapa kwemajini kune chivimbiso chekuti kurapwa kwehukuru hwepasi kunogona rimwe zuva kuzovepo.

Kugara uchiita zvakanakisa nguva iripo kunovandudza hupenyu hwemwana wako nevamwe vemumhuri mako. Funga nezve kutarisa ruzivo rwekurapa uye zviwanikwa pane hushoma hunopihwa kuburikidza neVadiki Vanhu veAmerica.