Noonan maʻi pale: hōʻike, symptoms, lapaʻau

Aia nō kekahiʻano o ka hanau mā i loko o nā keiki. Kekahi o ia mau mea i manaoia e e hala loa, he pono ole. Akā, he mea pohihihi keia maʻi. Lākou prevalence mea haʻahaʻa. Eia naʻe, he nui nō loa hoʻoponopono hopena. I kekahi o kēia mau pathologies o Noonan maʻi pale. Next, e hoi kakou i ka mea i loko o oi au mamuli. He 'atikala wehewehe ana, a no ke aha la he mea akaka Noonan maʻi pale. Photo maʻi e kekahi e hōʻike i ke kikokikona.

Overview

Noonan maʻi pale mea he hereditary pathology. PTPN11'ōewe mutated e komo ana i kona mau mākua pū i hiki ai i ke keiki kakou nana. E like me ka rula, na kanaka ma keia fruitless. No laila, i ka'ōewe ua pū i hiki ma ka maternal laina. Ana ia ohana ano o ka maʻi. Pohihihi keia hihia o ka ole-hereditary, akā, ka mea, ua i kakauia ma ka hoʻomaʻamaʻa.

mōʻaukala 'ike

I kekahi manawa hana me ka cardiologist, pediatrician Zhaklin Nunan, e hana ana i loko o ka? Aaieou o ke Kulanui o Iowa, au i kekahi mea i kekahi pūʻulu o nā keiki, a oia no nā keiki kāne a me nā kaikamāhine, ka mea i pulmonary stenosis, pinepine wehewehe aku ma ka ulu haʻahaʻa, kaulike maka akea, webbed'ā'ī ke aupuni 'haʻahaʻa auricles a me ptosis. Ina hookolokolo i ka hui malu pu ana o ka hoikeana o ka naau maʻi a me nā developmental abnormalities i loko o 833 nā mea maʻi, ke kauka kākau ai i loko o ka 1962 'atikala. I ka hana ia i ho'ākāka 'ia eiwa hihia ma i ma luna o ke kāʻei kua o ka naau kina congenital type, a ano lehalehu t hiʻona, umauma deformation , a me ka stunting. I ka maʻi i 'akomi i nā loko o kanaka kane a me ka wahine.

Noonan maʻi pale: Symptoms

Aia nō i ka helu o nā 'ano iʻike mai nā pathology. Mau nā, ma ka a pau:

• Low ulu. Women - 1,53, no na kanaka -. 1,63 m + i ka manawa o ka hanau ana e like me ke kino lōʻihi a me ke kaumaha o ke keiki i loko o maʻamau Oeao. Stunting hoʻomaka, mai ka makahiki o ka 2-3 makahiki.
• Hoʻololi nō he maka. Hoʻomanawanui iki mai diagnosed Noonan maʻi pale, ua hoʻomano kaulike maka almond shape. Ma ka pahale kihi o ka ili pa mea i loaʻa. Uaʻike pū ptosis (lihilihi hōʻike pū 'ana) ma muli o ke hoʻopōʻino Muscle papa, kekahi no o kumu uuku. Kahi o elua-hapakolu o nā keiki a me kāna hana i ka haunaele o ka hihiʻo. I ka ptosis i kaupalena 'ia ke kahua o ka Hawaii a me ka hoʻomōhala ana i ka squint.
• hale aʻe 'ā. Luna underdeveloped, he mea arcuate kiʻekiʻe lani. Nā ā me ka niho interposition hewa.
• Low ala a deformation o ka pepeiao. E like me ka hopena o keia anomaly e lohe hihia hoʻi.
• Pōkole, a ākea'ā'ī.
• Pale-hoʻokino umauma me ka hoʻomano kaulike nipples.
• Deformation o ke kuʻekuʻe aku (congenital).
• Flatfoot.
• Pōkole manamanalima.

Malformations o ka mea na nā loko

Noonan maʻi pale ua pinepine pu ma ka haunaele ma ka mea'ōnaehana mānowai koko nenoaiu. Ma ke kāʻei kua pathology hōʻike hou (stenosis) i loko o ka pulmonary kumu, a me ke kina i loko o ka interventricular septum. Ka lua o ka wahi ua ku e abnormalities o ka genitourinary nenoaiu. Penei, nā puʻupaʻa hōʻike mā e like me hypoplasia (ka nele o ka'aʻaʻa) a me ka wa e kaawale aku o kekahi hakuʻala. Me ka pili ana i ka puberty, e loli aʻe mai maʻamau i loa hemahema. Girls pinepine malama ma hope o ka hoouka kaua ana o menstruation, i loko o nā keikikāne - hoʻi a me cryptorchidism i loa kahi e. Nō hoʻi i loaʻa i ka 'aʻe' ana o spermatogenesis. Ma kekahi mau hihia, o ka spermatozoa i loa kahi e. E kū'ē i ke kāʻei kua o ka hana no ka Noonan maʻi pale i ka mahuahua kahe ana ke koko. Kekahi hoʻomanawanui iki mai no hoi e hōʻike abnormalities o ka noʻonoʻo 'ana i loko o ka mehana.

shape

Aia he mau ke ano o ka pathology:

• ʻohana palapala. Ua i kekahi hereditary autosomal-Hoʻohaku type. Ma nā moku halihali mokulele o ka mutant'ōewe mamo ikea me ka pathology.
• Ke sporadic palapala. Ma keia hihia, ke mutation akaka mai Ina e hihia. Ma keia hereditary ololi ua i hoikeia.

kumu

Ka loa, he pono ole ololi e hoʻonāukiukiʻana mai o ka pathology o ka PTPN11'ōewe mutation. Keia kumu ua diagnosed i loko o 50% o nā mea maʻi. Eia naʻe, ma ka kekahi pakeneka o ka poʻe me keia maʻi pale mea he aaiaoe ololi mea unclear. Hooilina pathology ia lŘlŘ i loko o ka autosomal Hoʻohaku ano. Ka maʻi pale hiki ke triggered ma ka hou mutation. Mai keia ka mea, penei i ka makua me ka'ōewe e mai i ka nui o ka manawa, e loaʻa kekahi keiki.

ʻike,

Ua Ua lele akula i loko, e like me ke ano mawaho hiʻona (i ho'ākāka 'ia ma luna). ¶ A i loko o kaʻike,? Anoee keʻena hoʻokolohua kiko'î. Ma kekahi, aia no i ka emi o ka testosterone lehulehu, XII clotting ololi. He nui no hoi na mea paahana a me ka noiʻi. Hoonoho ia e ka X-Ray o ka sternum, echocardiography, ECG. E ho ohana i kēia mau 'ana i kūpono hoike abnormalities o na nā loko. Ke kauka i kekahi koi 'kūkā o ka' inikua aaiaoe?.

pākōlea ana

I e pili ana me ka genetically hoʻoholo maʻi pale lapaʻau ua pahuna kuhikuhi i ke kāpaeʻana symptoms. Ka wā i hana ua hāʻawi cryptorchidism. I loko o kona hoʻi ka neʻeʻana i loko o ka scrotum. Me ka ka ho'ēmiʻana o ka lehulehu o androgen hōmona Inc ka mea, ua pono. Ma ke alo o kaʻaʻa puʻuwai ole, hemodialysis ua hoonohoia. Me ia, i ka wehe 'ua lawe mai, mai ke kino Via metabolic huahana extrarenal koko hoʻomaʻemaʻe.