He aha ka Dwarfism Primordial?

Anter

• 5 ʻano a me kā lākou mau ʻōuli
• Nā kiʻi
• 1. Microcephalic osteodysplastic primordial dwarfism, ʻano 1 (MOPD 1)
• 2. Microcephalic osteodysplastic primordial dwarfism, ʻano 2 (MOPD 2)
• 3. ʻO Seckel Syndrome
• 4. ʻO Russell-Silver maʻi
• 5. Meier-Gorlin maʻi
• Nā kumu o ka dwarfism primordial
• ʻIke o ka dwarfism primordial
• Kiʻi kiʻi
• Ka mālama ʻana i ka dwarfism primordial
• ʻO Outlook no ka dwarfism primordial

Hōʻike Overview

ʻO ka dwarfism Primordial kahi hui laha ʻole a weliweli pinepine hoʻi o nā kūlana genetical i hopena i kahi kino liʻiliʻi a me nā ulu ulu ʻē aʻe. Hōʻike mua ʻia nā ʻōuli o ke kūlana i ka pae fetal a hoʻomau ma o ka wā kamaliʻi, ʻōpio, a me nā mākua.

Hiki i nā keiki hānau me ka dwarfism primordial ke kaupaona ma kahi o 2 mau paona a ana wale i ka 12 ʻīniha ka lōʻihi.

Aia he ʻelima mau ʻano nui o ka dwarfism primordial. Hiki i kekahi o kēia mau ʻano ke alakaʻi i nā maʻi make.

Aia kekahi mau ʻano dwarfism ʻē aʻe ʻaʻole primordial. Hiki ke mālama ʻia kekahi o kēia ʻano dwarfism me nā hormona ulu. Akā ʻaʻole pane ka dwarfism primordial i ka mālama ʻana i ka hormone, no ka mea he genetic ia.

Kākaʻikahi loa ke kūlana. Kuhi ka poʻe loea ʻaʻole ma mua o 100 mau hihia ma United States a me Kanada. ʻOi aku ka maʻamau i nā keiki me nā mākua pili i ka genetically.

5 ʻano a me kā lākou mau ʻōuli

Aia he ʻelima mau kumu maʻamau o ka dwarfism primordial. Hoʻohālikelike ʻia nā mea āpau e ka nui o ke kino liʻiliʻi a me ke kino pōkole e hoʻomaka i ka ulu mua ʻana o ka fetal.

Nā kiʻi

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

ʻO nā kānaka me ka MOPD 1 pinepine i ka lolo i hoʻomohala ʻole ʻia, kahi e alakaʻi ai i ka hopu ʻana, apena, a me ka maʻi hoʻomohala ʻike. Make pinepine lākou i ka wā kamaliʻi.

ʻO nā ʻōuli ʻē aʻe e like me:

• kino pōkole
• iwi iwi kuamoʻo
• iwi ʻūlū pio
• lauoho lauoho ʻole a i ʻole
• ʻili maloʻo a ʻelemakule ke nānā aku

Kapa ʻia ʻo MOPD 1 ʻo Taybi-Linder Syndrome.

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

ʻOiai he mea maʻamau ʻole, he ʻano maʻamau kēia o ka dwarfism primordial ma mua o ka MOPD 1. Ma kahi o ka liʻiliʻi o ka nui o ke kino, hiki i nā mea me ka MOPD 2 ke loaʻa i nā mea ʻē aʻe ʻē aʻe, e like me:

• ihu kaulana
• maka ʻōpuʻu
• nā niho liʻiliʻi (microdontia) me ka enamel maikaʻi ʻole
• leo ʻūʻū
• iwi kuapo (scoliosis)

ʻO nā hiʻohiʻona ʻē aʻe i hiki ke hoʻomohala ma o ka manawa pū me:

• pigmentation ʻili ʻokoʻa
• ʻike maka
• momona

ʻO kekahi poʻe me MOPD 2 e hoʻomohala i nā aʻa i hiki i ka lolo. Hiki i kēia ke kumu i ka hemorrhage a me nā hahau, ʻoiai i ka wā ʻōpio.

ʻOi aku ka maʻamau o ka MOPD 2 i nā wahine.

3. ʻO Seckel Syndrome

Ua kapa ʻia ʻo Seckel Syndrome ua kapa ʻia ʻo dwarfism poʻo poʻo manu no ka mea i ʻike ʻia he ʻano manu e like me ke poʻo.

ʻO nā hōʻailona me:

• kino pōkole
• poʻo liʻiliʻi a me ka lolo
• maka nunui
• ihu e puka ana
• maka haiki
• lalo iwi ā lalo
• lae hou
• naʻau maikaʻi ʻole

Hiki ke loaʻa i kahi maʻi hoʻomohala ʻike, akā ʻaʻole like ka maʻamau e like me ka manaʻo e hāʻawi ʻia i ka lolo liʻiliʻi.

4. ʻO Russell-Silver maʻi

ʻO kēia kahi ʻano o ka dwarfism primordial e pane i kekahi manawa i ka mālama ʻana me nā homone ulu. ʻO nā ʻōuli o Russell-Silver maʻi pū kekahi:

• kino pōkole
• kinona poʻo triangular me ka lae ākea a me ka auwae kiko
• asymmetry o ke kino, kahi e hoʻemi ai me ka makahiki
• he manamana lima i kūlou a i ʻole nā ​​manamana lima (camptodactyly)
• pilikia pilikia ʻike
• nā pilikia ʻōlelo, me ka paʻakikī e hoʻokumu i nā huaʻōlelo maopopo (verpra dyspraxia) a me ka hoʻopaneʻe ʻana i ka ʻōlelo

ʻOiai ʻoi aku ka liʻiliʻi ma mua o ka maʻamau, ʻoi aku ka lōʻihi o nā kānaka me kēia maʻi maʻi ma mua o ka poʻe me nā ʻano MOPD 1 a me 2 a i ʻole Seckel Syndrome.

ʻO kēia ʻano dwarfism primordial kahi i ʻike ʻia ʻo Silver-Russell dwarfism.

5. Meier-Gorlin maʻi

ʻO nā ʻōuli o kēia ʻano dwarfism primordial me:

• kino pōkole
• pepeiao kūkulu ʻole (microtia)
• poʻo liʻiliʻi (microcephaly)
• kahi iwi ā lalo (micrognathia)
• kahi kneecap nalowale a i kūkulu ʻole ʻia (patella)

ʻAneʻane ʻo nā hihia āpau o Meier-Gorlin Syndrome hōʻike dwarfism, akā ʻaʻole hōʻike nā poʻo āpau i kahi poʻo liʻiliʻi, iwi ʻē i hoʻomohala ʻole ʻia, a i ʻole kneecap e hele nei.

ʻO kekahi inoa no ka Meier-Gorlin Syndrome ʻo ia ka pepeiao, patella, ka maʻi kūpoko pōkole.

Nā kumu o ka dwarfism primordial

Hoʻokumu ʻia nā ʻano dwarfism primordial āpau e nā loli i nā genes. Hoʻokumu nā ʻano hoʻololi ʻokoʻa i nā ʻano ʻokoʻa e hana i ka dwarfism primordial.

I nā manawa he nui, ʻaʻole naʻe nā kānaka āpau me ka dwarfism primordial hoʻoilina i kahi gen mutant mai kēlā me kēia makua. Kapa ʻia kēia he kūlana recessive autosomal. ʻAʻole hōʻike nā mākua i ka maʻi iā lākou iho.

Eia nō naʻe, nui nā hihia o ka dwarfism primordial he hoʻololi hou, no laila ʻaʻole paha i loaʻa i nā mākua ka ʻāpana.

No ka MOPD 2, hiki ke hoʻololi i ka gen i kaohi i ka hana o ka protein pericentrin. ʻO ia ke kuleana no ka hana hou a me ka hoʻomohala ʻana i nā hunaola o kou kino.

No ka mea he pilikia ia i nā gen e kaohi ana i ka ulu ʻana o ka pūnaewele, a ʻaʻole ka hemahema o ka ulu ʻana o ka hormone, ʻaʻole pili ka mālama ʻana me ka hormone ulu i ka nui o nā ʻano dwarfism primordial. ʻO kahi ʻokoʻa ʻo Russell-Silver maʻi.

ʻIke o ka dwarfism primordial

Hiki i ka dwarfism Primordial ke paʻakikī e kuhikuhi. ʻO kēia no ka mea ʻo ka liʻiliʻi a me ke kaumaha o ke kino e lilo i hōʻailona o nā mea ʻē aʻe, e like me ka meaʻai maikaʻi ʻole a i ʻole kahi maʻi maʻi metabolic.

Hoʻokumu ʻia ka diagnostics ma ka moʻolelo o ka ʻohana, nā ʻano o ke kino, a me ka nānā pono ʻana i nā kukuna X a me nā kiʻi ʻē aʻe. Ma muli o ka liʻiliʻi loa o kēia mau pēpē i ka wā hānau, hoʻokau pinepine lākou i ka haukapila no kekahi manawa, a hoʻomaka ke kaʻina o ka loaʻa ʻana o kahi hōʻailona i laila.

E nīnau nā kauka, e like me ka pediatrician, neonatologist, a i ʻole ka genistist, e pili ana i ke kiʻekiʻe awelika o nā kaikaina, nā mākua, a me nā kūpuna e kōkua ai e hoʻoholo inā he kino ʻohana ke ʻano pōkole akā ʻaʻole maʻi. Mālama pū lākou i kahi moʻolelo o ke kiʻekiʻe, ke kaumaha, a me ke anapuni o kāu keiki e hoʻohālikelike i kēia mau mea i nā kiʻina ulu ulu maʻamau.

Loaʻa i nā hoʻāʻo genetic i kēia manawa e kōkua i ka hōʻoia ʻana i ke ʻano kikoʻī o ka dwarfism primordial.

Kiʻi kiʻi

ʻO kekahi mau hiʻohiʻona kūikawā o ka dwarfism primordial i ʻike pinepine ʻia ma nā kukuna X pū kekahi:

• hoʻopaneʻe i ka makahiki iwi e like me ʻelua a ʻelima mau makahiki
• 11 wale nō paʻa o nā iwi ʻaoʻao ma kahi o ka maʻamau 12
• pelvis hāiki a pālahalaha
• hoʻoliʻiliʻi (overtubulation) o ka ʻau o nā iwi lōʻihi

ʻO ka hapa nui o ka manawa, hiki ke ʻike ʻia nā ʻōuli o dwarfism i ka wā o ultrasound prenatal.

Ka mālama ʻana i ka dwarfism primordial

Koe no ka hoʻōla hormonone i nā hihia o Russell-Silver syndrome, ʻo ka hapa nui o nā hōʻailona ʻaʻole e mālama i ka pōkole a i ʻole ke kaumaha o ke kino i ka dwarfism primordial.

Hiki i ke keʻoki kino ke kōkua i ka mālama ʻana i nā pilikia e pili ana i ka ulu iwi iwi disproportionate.

Hiki ke hoʻāʻo ʻia kahi ʻano o ke kaha ʻana i kapa ʻia ka hoʻolōʻihi ʻia o nā lālā. Pili kēia i nā kaʻina hana he nui. Ma muli o ka pilikia a me ke koʻikoʻi, kali pinepine nā mākua a ʻelemakule ke keiki ma mua o ka hoʻāʻo ʻana.

ʻO Outlook no ka dwarfism primordial

Hiki i ka dwarfism Primordial ke koʻikoʻi, akā he kakaikahi loa ia. ʻAʻole ke ola nā keiki āpau me kēia ʻano i ka wā makua. Hiki i ka nānā mau ʻana a me ke kipa ʻana i ke kauka ke kōkua i ka ʻike ʻana i nā pilikia a hoʻomaikaʻi i ke ola o kāu keiki.

Mālama nā holomua i nā therapies gene i ka hoʻohiki no ka loaʻa ʻana o kekahi lāʻau lapaʻau no ka dwarfism primordial i kekahi lā.

Ke hoʻomaikaʻi nei i ka manawa kūpono hiki ke hoʻomaikaʻi i ke ola o kāu keiki a me nā mea ʻē aʻe i kou ʻohana. E noʻonoʻo e nānā i ka ʻike olakino a me nā kumuwaiwai ma dwarfism i hāʻawi ʻia ma o Little People of America.