ʻO Peutz-Jeghers Syndrome

ʻO Peutz-Jeghers Syndrome (PJS) kahi maʻi laha ʻole kahi e ulu ai nā mea ulu i kapa ʻia he polyps i loko o nā ʻōpū. Loaʻa i kahi kanaka me PJS kahi makaʻu nui i ka hoʻomohala ʻana i kekahi mau maʻi ʻaʻai.

ʻAʻole maopopo i ka nui o ka poʻe i hoʻopili ʻia e PJS. Eia nō naʻe, kuhi nā National Institutes of Health e pili ana iā 1 ma 25,000 a 300,000 hānau.

Hoʻokumu ʻia ʻo PJS e kahi hoʻololi i ka gen i kapa ʻia ʻo STK11 (i ʻike ʻia ma mua ʻo LKB1). ʻElua ala e hiki ai i PJS ke hoʻoilina:

• ʻO PJS ʻohana i hoʻoilina ʻia e nā ʻohana ma ke ʻano he mana autosomal. ʻO ia hoʻi inā loaʻa kekahi o kou mau mākua i kēia ʻano PJS, he 50% kou manawa e hoʻoili ai i ka ʻāpana a loaʻa ka maʻi.
• ʻAʻole hoʻoilina PJS kūlohelohe mai kahi makua. Hana ʻia ka hoʻololi ʻana o nā kolo iā ia iho. I ka manawa e hāpai kekahi i ka loli, hiki i kā lākou keiki ke 50% loaʻa ka hoʻoilina iā ia.

Nā ʻōuli o PJS:

• ʻO nā kiko brownish a bluish-hina hina ma ka lehelehe, gum, ka pale o loko o ka waha, a me ka ʻili
• Nā manamana lima a me nā manamana wāwae paha
• Pākuʻi i ka ʻeha ma ka ʻōpū
• Nā freckles ʻeleʻele a puni nā lehelehe o kahi keiki
• ʻO ke koko i loko o ka pahu e hiki ai ke ʻike maka ʻole (i kekahi manawa)
• ʻO ka luaʻi

Hoʻonui ka polyps i ka ʻōpū liʻiliʻi, akā i ka ʻōpū nui (kolona). ʻO kahi hōʻike o ke kolona i kapa ʻia he kolonoscopy e hōʻike i nā polyps kolone. Loiloi ʻia ka ʻōpū liʻiliʻi i nā ʻano ʻelua. ʻO kekahi he barium x-ray (nā ʻōpū liʻiliʻi). ʻO ka lua he endoscopy capsule, kahi e ale ʻia ai kahi pahu liʻiliʻi a laila lawe i nā kiʻi he nui ke hele i loko o ka ʻōpū liʻiliʻi.

Hōʻike paha nā hōʻike hou:

• ʻĀpana o ka ʻōpū i pelu iā ia iho (intussusception)
• ʻO nā tumors Benign (noncancerous) i ka ihu, nā ala ea, nā ureter, a i ʻole ka waiū

Hoʻokomo ʻia paha nā hoʻokolohua Laboratory:

• Helu piha ke koko (CBC) - hōʻike paha i ka anemia
• Ke hoʻāʻo genetic
• Stool guaiac, e nānā i ke koko i ka noho
• Huina paʻa paʻa paʻa paʻa hao (TIBC) - hiki ke hoʻopili ʻia me ka anemia hemahema hao

Pono paha ke ʻoki e wehe i nā polyps e kumu i nā pilikia lōʻihi. Kōkua nā mea hoʻohui hao e pale aku i ke kahe o ke koko.

ʻO nā kānaka me kēia ʻano e kiaʻi ʻia e kahi mea mālama ola a nānā pinepine ʻia no nā loli polyp cancerous.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻikepili hou aʻe ma PJS:

• National Organization for Rare Disorder (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Nui paha ka makaʻu no kēia mau polyps e lilo i maʻi ʻaʻai. Hoʻopili kekahi mau noiʻi iā PJS me nā maʻi ʻaʻai o ka gastrointestinal tract, lung, umauma, kōpū, a me nā ovaries.

Komo pū nā pilikia:

• Intussusception
• Polyps e alakaʻi i ka maʻi ʻaʻai
• ʻO nā cyst ovarian
• ʻO kekahi ʻano o nā ʻōiwi ovarian i kapa ʻia he tumors kaula wahine

Kāhea i kahi manawa me kāu mea hāʻawi inā loaʻa a ʻike paha kāu keiki i nā ʻōuli o kēia ʻano. ʻO ka ʻeha o ka ʻōpū nui paha kahi hōʻailona o kahi kūlana pilikia e like me ka intussusception.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā ʻoe e hoʻolālā e loaʻa nā keiki a loaʻa kahi moʻolelo ʻohana o kēia ʻano.

PJS

• Nā ʻōnaehana ʻōnaehana Digestive

ʻO McGarrity TJ, Amos CI, Baker MJ. ʻO Peutz-Jeghers Syndrome. I: Adam MP, Ardinger HH, Pagon RA, et al, eds.Nā Manaʻo GeneReview. Seattle, WA: Kulanui o Wakinekona. www.ncbi.nlm.nih.gov/books/NBK1266. Hoʻohou i Iulai 14, 2016. Loaʻa iā Nowemapa 5, 2019.

ʻO Wendel D, Murray KF. Nā Tumors o ka digestive tract. 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 372.