Maʻi ʻo Marfan

ʻO Marfan Syndrome kahi maʻi o nā mea hoʻopili. ʻO kēia ka mea e hoʻoikaika i nā hanana o ke kino.

Hoʻopilikia nā maʻi o nā mea hoʻopili i ka ʻōnaehana iwi, ʻōnaehana cardiovascular, nā maka, a me ka ʻili.

Hoʻokumu ʻia ʻo Marfan Syndrome e nā hemahema i kahi ʻāpana i kapa ʻia fibrillin-1. He kuleana nui ʻo Fibrillin-1 ma ke ʻano he poloka hale no nā mea hoʻopili i ka kino.

ʻO ka hemahema o ka moʻo ke kumu e ulu nui nā iwi lōʻihi o ke kino. ʻO nā kānaka me kēia maʻi he kiʻekiʻe kiʻekiʻe a lōʻihi nā lima a me nā wāwae. Pehea ka ʻike ʻole ʻana o kēia ulu ʻana.

ʻO nā wahi ʻē aʻe o ke kino e hoʻopili ʻia:

• Lula nāʻaʻaʻa (aia paha he pneumothorax, kahi e hiki ai i ka lewa ke pakele mai ka māmā i ka umauma umauma a hāneʻe i ka māmā)
• ʻO ke aorta, ke kīʻaha koko nui e lawe i ke koko mai ka puʻuwai a i ke kino e hoʻolōʻihi a lilo i nāwaliwali (i kapa ʻia aortic dilation a i ʻole aortic aneurysm)
• ʻO ka puʻuwai puʻuwai
• ʻO nā maka, ke kumu o nā cataract a me nā pilikia ʻē aʻe (e like me ka dislocation o nā aniani)
• Ka ʻili
• Uhi uhi i ka iwi kuamoʻo
• Nā hono

I ka hapanui o nā hihia, hala ʻia ka maʻi ʻo Marfan e nā ʻohana (hoʻoilina). Eia nō naʻe, a hiki i ka 30% o ka poʻe ʻaʻohe ona moʻolelo ʻohana, i kapa ʻia ʻo "sporadic." I nā hihia sporadic, manaʻo ʻia ka maʻi maʻi ke kumu o kahi loli hou.

ʻO ka poʻe me Marfan Syndrome he kiʻekiʻe ka lōʻihi me nā lima lōʻihi a lahilahi a me nā wāwae a me nā manamana lima e like me ka nananana (i kapa ʻia ʻo arachnodactyly). ʻOi aku ka lōʻihi o nā lima ma mua o ke kiʻekiʻe ke kīnā ʻia nā lima.

ʻO nā ʻōuli ʻē aʻe e like me:

• ʻO kahi umauma e komo i loko a pili paha i waho, i kapa ʻia ʻo ka umauma funnel (pectus excavatum) a i ʻole ka nū nū (pectus carinatum)
• Nā wāwae pālahalaha
• Palate kiʻekiʻe a me nā niho piha
• Hipotonia
• ʻO nā hui i maʻalahi (akā ʻoi aku ka liʻiliʻi o nā kuʻekuʻe)
• Aʻo kīnā ʻole
• Ke neʻe o nā aniani o ka maka mai kona kūlana maʻamau (dislocation)
• Kahikina
• Kaʻi lalo liʻiliʻi (micrognathia)
• Spine e hālau i kekahi ʻaoʻao (scoliosis)
• Nani, maka haiki

ʻEha nā poʻe he nui me ka maʻi Marfan i ka ʻeha mau a me ka ʻeha pū.

E hana ka mea mālama ola i kahi hoʻokolohua kino. E neʻe paha nā hono ma mua o ka maʻamau. Aia kekahi mau hōʻailona o:

• ʻO Aneurysm
• Pulupā naha
• Nā pilikia o ka puʻuwai puʻuwai

Hōʻike paha kahi loiloi maka:

• Nā kīnā o ka maka aniani a i ʻole ke kole
• Wehe retina
• Nā pilikia ʻike

E hana ʻia paha kēia mau hoʻāʻo:

• ʻEchocardiogram
• ʻO ka hoʻokolohua mutation Fibrillin-1 (i kekahi poʻe)

Pono e hana i kahi echocardiogram a i ʻole kekahi hōʻike ʻē aʻe i kēlā me kēia makahiki e nānā i ke kumu o ke aorta a me nā valves puʻuwai paha.

Pono e mālama ʻia nā pilikia o ka ʻike inā hiki.

Nānā no scoliosis, keu hoʻi i nā makahiki ʻōpio.

Hiki i ka lāʻau lapaʻau e hoʻolohi i ka helu o ka puʻuwai a hoʻohaʻahaʻa i ke kaomi ke kōkua i ka pale ʻana i ke koʻikoʻi ma ka aorta. I mea e hōʻeha ʻole ai i ka aorta, hiki i nā poʻe me ke ʻano ke hoʻololi i kā lākou mau hana. Pono paha kekahi poʻe i ke ʻoki e hoʻololi i ke aʻa aorta a me ka kiwikā.

Pono e nānā pono ʻia nā wahine hāpai me ka maʻi ʻo Marfan ma muli o ka hoʻonui ʻia o ke koʻikoʻi ma ka puʻuwai a me ke aorta.

ʻO National Marfan Foundation - www.marfan.org

Hiki i nā pilikia pili i ka puʻuwai ke hoʻopōkole i ke ola o nā kānaka me kēia maʻi. Eia nō naʻe, nui ka poʻe e noho nei i kā lākou 60 mau makahiki a ʻoi. ʻO ka mālama maikaʻi ʻana a me ke kaha ʻana e hoʻonui hou i ke ola.

Komo pū nā pilikia:

• Regurgitation ʻaʻa
• Haki ʻaʻano
• Endocarditis koʻohune
• Ke kāpae nei i ka aneurysm aortic
• Ka hoʻonui ʻana i ke kumu o ke aorta
• Hewa puʻuwai
• Hoʻopiʻi ka pahu puka Mitral
• Scoliosis
• Nā pilikia ʻike

ʻO nā kāne e loaʻa ana i kēia ʻano a ke hoʻolālā nei i nā keiki e makemake paha e kamaʻilio me ke kākāʻōlelo genetic ma mua o ka hoʻomaka ʻana i kahi ʻohana.

ʻAʻole hiki ke pale ʻia nā hoʻololi kūlohelohe hou a hiki i Marfan (ma lalo o ka hapakolu o nā hihia). Inā loaʻa iā ʻoe ka maʻi ʻo Marfan, e ʻike i kāu mea hoʻolako i hoʻokahi manawa i kēlā me kēia makahiki.

Aneurysm ʻaʻa - Marfan

• ʻO Pectus excavatum
• Maʻi ʻo Marfan

ʻO Doyle JJ, ʻo Doyle AJ, ʻo Dietz HC. Maʻi ʻo Marfan. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 722.

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 Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.

ʻO Pyeritz RE. Nā maʻi i hoʻoilina ʻia no nā mea pili. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 244.