Fragile X maʻi maʻi

ʻO Fragile X Syndrome kahi ʻano kūlohelohe e pili ana i nā loli i kahi ʻāpana o ka X chromosome. ʻO ia ka mana maʻamau o ke kīnā ʻike hoʻoilina i nā keikikāne.

Hoʻokumu ʻia ʻo Fragile X Syndrome e ka loli i kahi ʻāpana i kapa ʻia FMR1. Hoʻomaʻa hou ʻia kahi ʻāpana liʻiliʻi o ke code gen i nā manawa he nui i hoʻokahi wahi o ka X chromosome. ʻO ka hana hou ʻana, ʻo ke ʻano paha ka hopena.

ʻO ka FMR1 hana ka ʻenekini i kahi protein i pono no kou lolo e hana pono. ʻO kahi kīnā i loko o ka ʻāpana e hoʻohua i kou kino i ka protein.

Hiki ke hoʻopili ʻia nā keikikāne a me nā kaikamahine, akā no ka mea hoʻokahi wale nō chromosome X o nā keikikāne, ʻoi aku ka hopena o ka hoʻonui ʻana o ka X māhuahua loa iā lākou. Hiki iā ʻoe ke loaʻa i ka maʻi X palupalu inā ʻaʻole i loaʻa i kou mau mākua.

ʻAʻole paha kahi moʻolelo ʻohana o ka maʻi palupalu X, nā pilikia hoʻomohala, a me ke kīnā ʻole o ka ʻike.

ʻO nā pilikia e pili ana i ka maʻi X palupalu me:

• ʻO ka maʻi maʻi Autism
• Hoʻopanee i ka kolo ʻana, ka hele wāwae ʻana a i ʻole ka wili ʻana
• Pākuʻi lima a nahu lima paha
• ʻO ka hana Hyperactive a impulsive paha
• Kīnā ʻole o ka noʻonoʻo
• Hoopanee ka haiolelo a me ka olelo
• Makemake e hōʻalo i ka pili maka

Pili pū nā ʻōuli kino i:

• Nā wāwae pālahalaha
• Nā hui maʻalahi a me nā leo haʻahaʻa haʻahaʻa
• Ka nui o ke kino
• Nui ka lae a i ʻole nā ​​pepeiao me ka iwi ā koʻikoʻi
• Maka lōʻihi
• ʻIli palupalu

Aia kekahi o kēia mau pilikia ma ka hānau ʻana, ʻoiai ʻaʻole hoʻomohala ʻia kekahi a hiki i ka wā ʻōpio.

ʻO nā lālā ʻohana i loaʻa hou ka liʻiliʻi i ka FMR1 ʻaʻohe hemahema o ka naʻau o ka ʻaoʻao. Hiki paha i nā wahine ke menopause ma mua a i ʻole ka paʻakikī e hāpai. Hiki paha i nā kāne a me nā wahine ke loaʻa nā pilikia me ka haʻalulu a me ka launa maikaʻi ʻole.

Aia kekahi mau hōʻailona kūwaho o ka palupalu X syndrome i nā pēpē. E nānā paha kekahi o ka mea mālama ola:

• ʻO ke anapuni poʻo nui i nā pēpē
• Kīnā ʻole o ka noʻonoʻo
• ʻO nā testicle nui ma hope o ka hoʻomaka ʻana o ka ʻōpio
• Nā ʻokoʻa lahilahi o nā hiʻohiʻona helehelena

I nā wahine, ʻo ka hilahila nui ka hōʻailona o ka maʻi.

Hiki i ka hoʻāʻo genetic ke hōʻoia i kēia maʻi.

ʻAʻohe mālama kūikawā no ka maʻi X palupalu. Akā, ua hoʻomohala ʻia ka hoʻomaʻamaʻa ʻana a me ke aʻo ʻana e kōkua i nā keiki i hoʻopilikia ʻia e hana i ka pae kiʻekiʻe loa. Ke hoʻomau nei nā hoʻokolohua hoʻokolohua (www.clinicaltrials.gov/) a ke nānā nei i nā ʻano lāʻau kūpono no ka mālama ʻana i ka maʻi X palupalu.

National Fragile X Foundation: fragilex.org/

Ma ke ʻano o ka hilinaʻi ʻana o ke kanaka i ka nui o ke kīnā o ka ʻike.

Hoʻololi nā pilikia, kaukaʻi ʻia i ke ʻano a me ke koʻikoʻi o nā ʻōuli. Pākuʻi ʻia lākou:

• ʻO nā maʻi pepeiao hou i nā keiki
• Maʻi ʻaʻai

Hiki i ka Fragile X syndrome ke kumu o ka autism a i ʻole nā ​​maʻi e pili ana, ʻoiai ʻaʻole nā ​​keiki āpau me ka maʻi X palupalu i loaʻa i kēia mau ʻano.

Kōkua paha ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no kēia maʻi a ke hoʻolālā nei ʻoe e hāpai.

Martin-Bell maʻi maʻi; ʻO Marker X maʻi maʻi

ʻO Hunter JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 nā maʻi Nā Manaʻo GeneReview. 2012: 4. PMID: 20301558 pubmed.ncbi.nlm.nih.gov/20301558/. Hoʻohou Nowemapa 21, 2019.

Kumar V, Abbas AK, Aster JC. Nā maʻi genetic a me nā pediatric. I: Kumar V, Abbas AK, Aster JC, eds. ʻO Robbins Basic Pathology. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 7.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.