Noonan syndrome me nā lentigine he nui

Noonan syndrome me nā lentigine he nui (NSML) kahi maʻi hoʻoilina nui loa. He pilikia ko ka poʻe me kēia ʻano me ka ʻili, ke poʻo a me ka maka, ka pepeiao o loko, a me ka puʻuwai. Hoʻopilikia ʻia nō hoʻi ke kino.

Noonan Syndrome ʻo ia ka inoa ʻo LEOPARD Syndrome.

Ua hoʻoilina ʻia ka NSLM ma ke ʻano he mana autosomal. ʻO kēia ka mea e pono ai i ke kanaka wale nō ka moʻomeheu kūlohelohe mai hoʻokahi makua i mea e loaʻa ai ka maʻi.

ʻO ka inoa mua o NSML o LEOPARD kū no nā pilikia like ʻole (hōʻailona a me nā hōʻailona) o kēia maʻi:

• LEntigines - nui helu o ʻeleʻele a ʻeleʻele paha e like me nā hōʻailona ʻili e pili nui i ka ʻāʻī a me ka umauma o luna akā hiki ke hōʻike ʻia ma ke kino holoʻokoʻa.
• Electrocardiograph conduction abnormalities - nā pilikia me ka uila a me nā hana pauma o ka puʻuwai
• ʻcular hypertelorism - nā maka i hoʻokaʻawale ʻia ākea
• Pulseary kiwikā stenosis– ka hoʻoliʻiliʻi o ka puʻuwai puʻuwai puʻuwai, e hopena ana i ka liʻiliʻi o ke kahe o ke koko i nā māmā a hana i ka hanu liʻiliʻi
• Anā bnormalities o nā genital - e like me nā testicle undescended
• Rka ulu ʻana o ka ulu (lohi ka ulu ʻana) - me nā pilikia ulu iwi o ka umauma a me ka iwi kuamoʻo
• Deafness - hiki ke loli ka hoʻolohe hoʻolohe ma waena o ka haʻahaʻa a me ke koʻikoʻi

ʻAno like ʻo NSML me Noonan syndrome. Eia naʻe, ʻo ka hōʻailona nui e hoʻokaʻawale i nā kūlana ʻelua ʻo ia ka poʻe me ka NSML he mau lentigine.

E hana ka mea mālama ola i kahi hoʻokolohua kino a hoʻolohe i ka puʻuwai me kahi stethoscope.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• ECG a me echocardiogram e nānā i ka puʻuwai
• Hōʻike hoʻolohe
• CT scan o ka lolo
• Kahi poʻo poʻo x
• EEG e nānā i ka hana o ka lolo
• Nā ho'āʻo koko e nānā i kekahi mau pae hormone
• Ke wehe nei i kahi ʻili o ka ʻili no ka hoʻokolokolo ʻana (ʻili biopsy)

Mālama ʻia nā ʻōuli ma ke kūpono. Pono ʻia kahi kōkua pepeiao. Pono paha ka lāʻau Hormone i ka manawa i manaʻo ʻia o ka wā ʻōpio e hana i nā loli maʻamau.

Hiki i ka laser, cryosurgery (ke kūpulu), a i ʻole nā ​​kalima hoʻoluʻu ke kōkua i ka hoʻomālamalama ʻana i kekahi o nā kiko ʻeleʻele i ka ʻili.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku e pili ana i ka LEOPARD Syndrome:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/leopard-syndrome
• NIH Genetics Home Reference - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Hoʻololi nā pilikia a hoʻopili ʻia:

• Kuli ke kuli
• Hoopaneeia ka manawa makua
• Nā pilikia puʻuwai
• Hoʻoipo

Kāhea i kāu mea hāʻawi inā loaʻa nā ʻōuli o kēia maʻi.

Kāhea i kahi manawa me kāu mea hāʻawi inā loaʻa iā ʻoe kahi moʻolelo ʻohana o kēia maʻi a hoʻolālā e loaʻa nā keiki.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka mōʻaukala ʻohana o NSLM e makemake nei e hānau keiki.

ʻO ka maʻi lentigines maha; Maʻi LEOPARD; NSML

James WD, Elston DM, Hana iā JR, Rosenbach MA, Neuhaus IM. ʻO nean neʻe a me nā neoplasms. I: James WD, Elston DM, mālama iā JR, Rosenbach MA, Neuhaus IM, eds. Nā maʻi o ka ʻili ʻo Andrews. 13th ed. Piladelapia, PA: Elsevier; 2020: chap 30.

Paller AS, Mancini AJ. Nā maʻi o ka pigmentation. I: Paller AS, Mancini AJ, eds. ʻO Hurwitz Clinical Pediatric Dermatology. 5th lā. Piladelapia, PA: Elsevier; 2016: chap 11.