Noonan syndrome

ʻO Noonan Syndrome kahi maʻi i loaʻa mai ka hānau ʻana (congenital) e kumu i nā ʻāpana o ke kino e ulu kino ʻole. I kekahi mau hihia ua hoʻoili ʻia i waena o nā ʻohana (hoʻoilina).

Pili ʻia ka maʻi maʻi Noonan i nā kīnā ma nā ʻano gen. Ma ka laulaha, ua lilo kekahi mau protein i pili i ka ulu a me ka hoʻomohala ʻana ma muli o ka hopena o kēia mau loli.

ʻO Noonan Syndrome kahi kūlana autosomal koʻikoʻi. ʻO kēia ke kumu o ka waiho wale ʻana o hoʻokahi makua i ka ʻaoʻao nonworking no ke keiki e loaʻa i ka maʻi maʻi. Eia naʻe, ʻaʻole hiki ke hoʻoilina ʻia kekahi mau hihia.

ʻO nā hōʻailona me:

• Hoopaneeia ka manawa makua
• Nā maka hoʻoluliluli a ākea paha
• Lohe lohe (loli)
• Nā pepeiao hoʻohaʻahaʻa haʻahaʻa a kaulike ʻole paha
• Hema ʻona naʻau haʻahaʻa (ma kahi o 25% o nā hihia)
• Hoʻopulu i nā lihilihi maka (ptosis)
• Kūlana pōkole
• Pālolo liʻiliʻi
• Hōkū hōʻike ʻole ʻia
• ʻAno ʻole o ka pahu umauma (ʻo ka pinepine o ka umauma sunken i kapa ʻia ʻo pectus excavatum)
• Ka ʻāʻī pūnaewele a hōʻike liʻiliʻi

E hana ka mea mālama ola i kahi hoʻokolohua kino. Hōʻike paha kēia i nā hōʻailona o nā pilikia puʻuwai o ka pēpē mai ka hānau ʻana. Hiki i kēia ke hoʻopili i ka stenosis pulmonary a me ka hemahema septial atrial.

Kaukaʻi ʻia i nā ʻōuli, akā hiki ke hoʻopili ʻia:

• Heluna pāluna
• Hoʻoikaika mea hōʻuluʻulu koko
• ECG, umauma x-ray, a i ʻole echocardiogram
• Nā hoʻāʻo hoʻolohe
• Nā pae hormonone ulu

Hiki i ka hoʻāʻo genetic ke kōkua i ke kuhi ʻana i kēia maʻi.

ʻAʻohe mālama kūikawā. E ʻōlelo ana kāu mea hāʻawi i ka lapaʻau e hōʻoluʻolu a mālama i nā hōʻailona. Ua hoʻohana kūleʻa ʻia ka hormone ulu e mālama i ke kiʻekiʻe pōkole i kekahi poʻe me Noonan syndrome.

ʻO ka Noonan Syndrome Foundation kahi kahi e hiki ai i ka poʻe e hana ana i kēia ʻano ke loaʻa ka ʻike a me nā kumuwaiwai.

Komo pū nā pilikia:

• Kahe koko ʻole a ʻeha paha
• Buildup o ka loli i nāʻaʻa o ke kino (lymphedema, cystic hygroma)
• ʻO ka holomua ʻole i ke keiki hānai
• Leukemia a me nā maʻi ʻaʻai ʻē aʻe
• Manaʻo haʻahaʻa haʻahaʻa
• Hoʻokomoʻole i nā kāne inā hoʻohaʻahaʻa ʻole ʻia nā hōʻike ʻelua
• Nā pilikia me ka hanana o ka puʻuwai
• Kiʻekiʻena kiʻekiʻe
• Nā pilikia pili kaiaulu ma muli o nā ʻōuli o ke kino

Hiki ke loaʻa kēia ʻano i nā hōʻike o nā pēpē mua. Pono pono ʻia kahi genistist e kuhikuhi pono i ka maʻi Noonan.

Makemake paha nā kāne me ka moʻolelo ʻohana o Noonan Syndrome e noʻonoʻo i ka ʻōlelo aʻo kūpuna ma mua o ka hānau keiki ʻana.

• ʻO Pectus excavatum

Cooke DW, Divall SA, Radovick S. Normal a ulu pono ʻole i nā keiki. I: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. ʻO Williams Textbook of Endocrinology. 14th ed. Piladelapia, PA: Elsevier; 2020: chap 25.

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.

Mitchell AL. ʻO nā anomalies kūpona. I: Martin RJ, Fanaroff AA, Walsh MC, hua. ʻO Fanaroff lāua ʻo Martin's Neonatal-Perinatal Medicine. 11th hua. Piladelapia, PA: Elsevier; 2020: chap 30.