Loaʻa i kāu pēpē kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Jacobsen Syndrome

Ua ʻike anei ʻoe i kekahi mau loli a pilikia paha me ka ulu ʻana o kāu keiki liʻiliʻi a i ʻole ke ʻano o ka helehelena? I kekahi manawa, hiki i kahi maʻi laha ʻole e like me Jacobsen Syndrome ke kumu o kēia. Mai hopohopo, e mālama mākou i nā mea āpau i maʻalahi.

He aha ka maʻi Jacobsen?

I ka ʻōlelo maʻalahi, ʻo Jacobsen Syndrome kahi maʻi laha ʻole e pili ana i nā chromosomes i loko o ko mākou kino. Aia ko mākou mau genes ma kēia mau chromosomes. Ma kēia kūlana, ua nalowale a holoi ʻia paha kekahi mau genes mai kahi ʻāpana o kā mākou chromosome 11. I ka pololei, ua nalowale kēia mau genes mai ka hopena o ka lima lōʻihi (q lima) o kēia chromosome. ʻO ia ke kumu i kapa ʻia ai ʻo 11q terminal deletion disorder.

E noʻonoʻo, inā nalowale kahi ʻāpana liʻiliʻi o ka chromosome 11, ua emi pū ka helu o nā genes i hoʻopilikia ʻia. A laila hiki ke emi iki nā hōʻailona. Akā inā nalowale kahi ʻāpana nui, ʻoi aku ka koʻikoʻi o nā hōʻailona. Ke nalowale kekahi hapa liʻiliʻi ma kēia ʻano i kekahi poʻe, ua kapa ʻia ʻo ia he partial Jacobsen syndrome a i ʻole partial monosomy 11q. ʻO ka monosomy ka wā e nalowale ai kahi ʻāpana o kahi pālua chromosome.

Loaʻa i nā keiki me ka Jacobsen Syndrome nā lohi o ka ulu ʻana , nā pilikia pili i ke ʻano , a me nā hiʻohiʻona helehelena ʻokoʻa . He nui nā keiki i loaʻa nā kīnā puʻuwai hānau . ʻOi aku ka nui o ko lākou loaʻa ʻana i kahi maʻi kahe koko i kapa ʻia ʻo Paris-Trousseau syndrome.

ʻAʻohe lāʻau lapaʻau piha no kēia i kēia manawa, a ʻokoʻa ka manawa ola mai kēlā kanaka a kēia kanaka.

He aha nā hōʻailona o ka maʻi Jacobsen?

ʻOkoʻa nā hōʻailona o ka Jacobsen Syndrome ma muli o ka nui a me kahi o ka holoi ʻia ʻana. Nui ka poʻe e ʻike i ka lohi i ka ulu ʻana o nā mākau ʻōlelo a me nā mākau neʻe . Loaʻa paha iā lākou ka hemahema o ka noʻonoʻo a me nā pilikia aʻo ʻē aʻe.

He nui nā keiki me Jacobsen Syndrome i loaʻa i nā pilikia pili i ke ʻano . No ka laʻana, ke ʻano hoʻopūhoihoi a me ka pōkole o ka nānā ʻana. Ua ʻike ʻia hoʻi he nui nā keiki me kahi maʻi i kapa ʻia ʻo Attention-Deficit/Hyperactivity Disorder (ADHD) . Pili pū kēia ʻano me ka hoʻonui ʻia o ka pilikia o ka hoʻomohala ʻana i nā maʻi Autism Spectrum .

Nā hiʻohiʻona helehelena kikoʻī

He nui nā hiʻohiʻona helehelena ʻokoʻa o nā keiki me ka Jacobsen Syndrome. ʻO kēia mau mea:

• Loaʻa ke poʻo nui - macrocephaly
• He lae ʻoi ma muli o ke ʻano ʻē o ke poʻo (trigonocephaly)
• Nā pepeiao liʻiliʻi, haʻahaʻa
• Nā maka mamao loa - hypertelorism
• Nā maka maka e hāʻule ana - ptosis
• ʻO ke alo o kahi ʻili ʻili ma ke kihi o loko o ka maka - nā ʻili epicanthal
• Alahaka ihu ākea
• Nā kihi o ka waha e huli ana i lalo
• He lehelehe luna lahilahi
• He ʻoki liʻiliʻi

Nā hiʻohiʻona ʻē aʻe

Hiki ke ʻike ʻia kekahi mau hiʻohiʻona ʻē aʻe:

• Nā kīnā puʻuwai hānau
• Nā pilikia hānai
• Ka lohi o ka ulu ʻana ma mua a ma hope o ka hānau ʻana
• Kino pōkole
• Nā maʻi sinus a me nā pepeiao pinepine
• Nā ʻano ʻē o ka ʻōnaehana hoʻoheheʻe, nā puʻupaʻa, a me nā genitalia

He nui ka poʻe me Jacobsen Syndrome i loaʻa i kahi maʻi kahe koko i kapa ʻia ʻo Paris-Trousseau syndrome . Hoʻopilikia kēia i nā platelets o kāu keiki. ʻO nā platelets kahi ʻano cell e kōkua i ke kāpili ʻana o ke koko. Me ka Paris-Trousseau syndrome, ua pilikia ke keiki no ke kahe koko maʻamau i ko lākou ola a pau, a hiki ke ʻeha maʻalahi.

He aha nā kumu o ka maʻi Jacobsen?

He maʻi chromosomal ka Jacobsen Syndrome. E like me kou ʻike, ʻo nā chromosomes nā mea e loaʻa ai kā mākou ʻike genetic (genes). Hoʻoholo kēia mau genes i ke ʻano o ka ulu ʻana a me ka hana ʻana o ko mākou kino. ʻO ka maʻamau, aia he 22 mau pālua o nā chromosomes i helu ʻia i loko o ke kino kanaka, me hoʻokahi pālua o nā chromosomes sex. Loaʻa i kēlā me kēia chromosome kahi lima pōkole (lima p) a me kahi lima lōʻihi (lima q).

I kekahi poʻe, ua holoi ʻia kekahi mau genes ma ka hopena o ka lima lōʻihi (q) o ka chromosome 11. ʻO ka hapalua ʻē aʻe o ka chromosome 11 e noho paʻa ana. ʻO kēia ke kumu o ka Jacobsen Syndrome. ʻO ka nui o ka nui o ka holoi ʻia ʻana, ʻoi aku ka koʻikoʻi o nā hōʻailona. Ma muli o ka nui o ka holoi ʻia ʻana, hiki i ka ʻāpana ke loaʻa i nā wahi āpau mai 170 a ʻoi aku ma mua o 340 mau genes. ʻO nā genes ma kēia ʻāpana ke kuleana no ka ulu pono ʻana o ko mākou puʻuwai, ka lolo, a me nā hiʻohiʻona o ka helehelena.

He mana nui kēia a he mana hoʻihoʻi paha?

ʻO ke ʻano o ka dominant a recessive paha e pili ana i ke ʻano o ka loaʻa ʻana o kāu mau genes mai kou mau mākua.

Akā,I ka hapanui o nā hihia, ʻaʻole hoʻoilina ka Jacobsen Syndrome. ʻO ia hoʻi, ʻaʻole ia i hoʻoilina ʻia mai nā mākua mai. Hoʻokumu pinepine ʻia ia e kahi hewa maʻamau i ka mahele ʻana o ke kelepona i ka wā o ka ulu ʻana o ka embryonic, e hopena ana i ka nalowale ʻana o kahi ʻāpana o ka chromosome. ʻAʻohe mea hiki i nā mākua ke hana e pale aku ai, a ʻaʻohe mea hiki iā lākou ke hana e pale aku ai. ʻO ka poʻe me Jacobsen Syndrome, ʻaʻohe o lākou moʻolelo ʻohana o ke ʻano. Eia nō naʻe, hiki iā lākou ke hoʻoili i ke ʻano i kā lākou mau keiki.

He mea kākaʻikahi loa, hiki i ka poʻe me Jacobsen Syndrome ke hoʻoilina i ke kūlana mai kahi makua asymptomatic. Hana ʻia kēia ke loaʻa i kahi makua kahi hanana genetic paʻakikī i kapa ʻia he balanced translocation . I ka ʻōlelo maʻalahi, kahi ʻāpana o ka chromosome 11 a me kahi ʻāpana o kahi chromosome ʻē aʻe e hoʻololi i nā wahi. ʻAʻole kēia e hōʻemi i ka mea genetic, no laila ʻaʻole hōʻike nā mākua i nā hōʻailona. Eia nō naʻe, i ka wā e hoʻoili ʻia ai kēia mau chromosome, hiki i nā keiki ke loaʻa kahi kaulike ʻole.

He aha nā kumu pilikia?

He maʻi hoʻoilina ʻo Jacobsen Syndrome hiki ke hoʻopilikia i kekahi. Ua ʻike ʻia kekahi mau noiʻi e hoʻopilikia pinepine iki ia i nā kaikamahine.

Pehea e ʻike ai nā kauka i kēia?

Hiki paha i kāu kauka ke ʻike i ka Jacobsen Syndrome i kou wā hāpai. Inā hopohopo nā scan ultrasound prenatal , hiki i kāu kauka ke ʻōlelo aku i nā hoʻāʻo hou aʻe. ʻO nā hoʻokolohua nānā genetic prenatal maʻamau:

• ʻO ka hoʻāʻo prenatal non-invasive (NIPT): Pili kēia i ka lawe ʻana i kahi liʻiliʻi o ka DNA o kāu pēpē mai kahi hāpana o kou koko a me ka nānā ʻana i nā mea ʻino i ka helu o nā chromosomes.
• ʻO ka laʻana ʻana o Chorionic villus (CVS): Hoʻohana ke kauka i kahi nila e lawe i kahi hāpana o nā pūnaewele mai ka placenta.
• Amniocentesis: Hoʻohana ke kauka i kahi nila e lawe i kahi laʻana o ka wai amniotic i loko o ka ʻōpū.

Ma hope o ka hānau ʻana o ke pēpē, hiki i ke kauka o ka pēpē ke ʻike i ka Jacobsen Syndrome ma o ka hana ʻana i ka hoʻāʻo genetic . Ma kēia hoʻāʻo genetic, lawe ke kauka i kahi hāpana o ke koko o ke pēpē a nānā iā ia ma lalo o kahi microscope. Hoʻoluʻu lākou i nā chromosomes i loko o ka hāpana, e like me ka barcode. Hiki i kēia ke nānā i nā chromosomes haki, nā genes nalowale. ʻO ka maʻamau, aia ka ʻāpana haki ma ka chromosome 11. Eia nō naʻe, pono nā hoʻāʻo genetic hou aʻe e ʻike i kahi kikoʻī o ka haki.

ʻO kekahi hoʻāʻo ʻē aʻe ʻo Microarray Comparative Genomic Hybridization (Array CGH).I kekahi manawa, ʻo nā loli liʻiliʻi loa i nā chromosomes, liʻiliʻi loa e ʻike ʻia ma lalo o ka microscope, hiki ke hana i ka Jacobsen Syndrome. ʻO ia ka manawa e hana ai nā kauka i kēia hoʻāʻo Array CGH. Hōʻike kēia i nā loli liʻiliʻi loa i ka DNA ma o nā chromosomes o ka pēpē. Hiki iā ia ke ʻike inā ua pālua ʻia, ua hoʻopilikia ʻia, a nalowale paha ka DNA.

Pehea e mālama ʻia ai ka Jacobsen Syndrome?

ʻAʻohe lāʻau lapaʻau no ka Jacobsen Syndrome. ʻO ka mālama ʻana ma luna o:

• No ka mālama ʻana i nā hōʻailona o kāu keiki
• No ke kōkua ʻana iā ia e hoʻokō i kāna mau pae hoʻomohala
• I mea e pale aku ai i nā pilikia olakino

No nā pēpē i pilikia i ka ʻai ʻana, hiki i nā kauka ke ʻōlelo aku i kahi ʻōmole gastrostomy (G-tube) . Hoʻokomo pololei ʻia kēia ʻōmole i loko o ka ʻōpū o ka pēpē e hāʻawi i ka meaʻai. Hiki i kahi ʻoki kino i kapa ʻia ʻo fundoplication ke hoʻoponopono i kahi pilikia me ka valve ma lalo o ka esophagus.

Pono paha kāu keiki i nā ʻoki kino ʻē aʻe. No ka laʻana, nā ʻoki kino e hoʻoponopono i nā pilikia craniofacial, e like me ka trigonocephaly . Pono paha ke ʻoki kino e hoʻoponopono i nā pilikia ʻike a i ʻole nā ​​​​maka. Pono paha ke ʻoki kino e hoʻoponopono i nā kīnā iwi, puʻuwai, a me nā kīnā ʻē aʻe.

Hiki i ke kauka o kāu keiki ke kuhikuhi i kekahi mau lāʻau lapaʻau no kekahi mau pilikia o ka puʻuwai. Eia kekahi laʻana, nā antiarrhythmics . ʻO kēia nā lāʻau lapaʻau e kōkua i ka pale ʻana a i ʻole ka hoʻoponopono ʻana i nā ʻano puʻuwai ʻē. Hiki iā lākou ke kuhikuhi i nā diuretics . ʻO kēia nā lāʻau lapaʻau e kōkua i ka wehe ʻana i ka wai keu mai ke kino.

Hiki i nā kauka ke ʻōlelo aku i nā aniani hoʻoponopono, nā aniani hoʻopili, a i ʻole ke ʻoki ʻana no nā maʻi maka.

Hiki i nā kauka ke hāʻawi i nā hoʻoili koko a i ʻole nā ​​hoʻoili platelet e mālama i nā hopena o ka maʻi Paris-Trousseau . Hiki iā lākou ke hāʻawi iā ʻoe i kahi lāʻau lapaʻau i kapa ʻia ʻo desmopressin , kahi e kōkua ai i kou ʻūlū koko.

E hōʻea nō kāu keiki i ko lākou mau pae holomua i kekahi manawa. Eia nō naʻe, hiki i ke komo mua ʻana ke kōkua iā lākou e hōʻea i ko lākou hiki piha. Hiki i ke kauka o kāu keiki ke ʻōlelo aku i kēia mau mea:

• Hoʻonaʻauao hoʻoponopono kūikawā
• Hoʻōla kino
• Hoʻōla ʻōlelo

He aha kaʻu e manaʻo ai inā loaʻa i kaʻu keiki ʻo Jacobsen Syndrome?

ʻOkoʻa ke ola o ka poʻe me ka Jacobsen Syndrome ma muli o ke koʻikoʻi o ko lākou mau hōʻailona. Ma muli o nā maʻi puʻuwai koʻikoʻi a me nā pilikia o ke koko, ma kahi o 20% o nā pēpē me Jacobsen Syndrome e make ma mua o 2 mau makahiki.

Eia nō naʻe, ua ola ka nui o nā keiki me Jacobsen Syndrome a hiki i ka wā makua. Hiki i nā pākeke me kēia maʻi ke ola hauʻoli a hoʻokō i nā ola me nā ʻano kūʻokoʻa like ʻole.

Hiki ke pale ʻia ka maʻi Jacobsen?

No ka mea he maʻi hoʻoilina ia, ʻaʻole hiki ke pale ʻia ka Jacobsen Syndrome. Inā hāpai ʻoe a i ʻole e hoʻolālā ana e hāpai, e nīnau i kāu kauka e pili ana i ke aʻoaʻo hoʻoilina . Hiki i ke kākāʻōlelo hoʻoilina ke kōkua iā ʻoe e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me Jacobsen Syndrome.

Hiki ke hopohopo ka ʻike ʻana ua loaʻa i kāu pēpē ka maʻi Jacobsen Syndrome. Mai hopohopo, akā e hoʻokaʻawale i ka manawa e aʻo ai i ka nui o kāu hiki e pili ana i ka hōʻailona o kāu keiki. Inā hiki, e ho'āʻo e ʻimi i ke kauka e hoʻomaopopo i ke kūlana o kāu keiki. Hiki iā ia ke hāʻawi i kāu keiki i nā koho lapaʻau maikaʻi loa.

I mea e kōkua ai iā ʻoe e hoʻomanawanui i ka maʻi o kāu keiki, e nānā i nā hui kākoʻo . ʻO nā poʻe ʻē aʻe i loaʻa i ke kūlana like me ʻoe hiki ke hāʻawi iā ʻoe i ka ʻike a me ka ikaika e pono ai ʻoe e kōkua i kāu keiki.

Leka Lawe-Home

He maʻi kakaikahi a paʻakikī paha ka Jacobsen Syndrome, akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi.

• Hana ʻia kēia e kahi mutation genetic maʻamau , ʻaʻole ka hewa o nā mākua.
• He mea nui ka ʻike mua ʻana a me ke komo ʻana no ka hoʻomaikaʻi ʻana i ke ola o ke keiki.
• E ʻimi i ke kōkua mai nā kauka loea, nā mea hoʻōla, a me nā kākāʻōlelo .
• He mea waiwai nui ka ikaika a me ka ʻike i loaʻa mai nā hui kākoʻo me nā mākua ʻē aʻe.
• He ʻokoʻa kēlā me kēia keiki. E mālama i kāu keiki me ke aloha a me ke ahonui e like me ko lākou hiki a me nā pono.

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai kānalua e kamaʻilio me kāu kauka.

ʻO ka maʻi Jacobsen, ka ʻano ʻē o ka chromosome, ka chromosome 11, ka maʻi genetic, ka lohi o ka ulu ʻana, ka maʻi Paris-Trousseau, ka hemahema o ka puʻuwai hānau, ke aʻo ʻana i nā genetics