Prader-Willi maʻi pale

Prader-Willi maʻi pale - pohihihi keia aaiaoe kāna hana, ua i hookupaaia ke 'ano o ka hereditary EYI i ka lā. Ua ho'ākāka 'ia ma mua Prader-Willi maʻi pale ma 1959 ma ka Hawaiian pediatrician H. Willi a me A. Prader, a i aie kona inoa. Kēia pathology ua i kapa maʻi pale o ekolu «hypo» (hypotonia, hypogonadismus, hypomentia): muscular hypotonia, dementia a me ka hypogonadism. Eia hou, i ka lapaʻau kiʻi mea noho haahaa ka ulu a me ka acromicria - i ka poe uuku a nui o na lima a me na wawae. I ka maʻi o ka luna 'aaiaoe abnormalities i pū i hiki i ka autosomal recessive ano, maʻi pale ia lŘlŘ loa pinepine sporadic, aka, aia no na hihia o ka ohana aeaiiuo. E like me ka rula, cytogenetic haʻawina mai i hōʻike abnormalities.

No keia pathology mea typical pu ana me na maʻi like loa noʻonoʻo retardation me cerebral obesity, pōkole ke kino o Iesu, a me dysplastic gipogenitalizme kŰia. O ka nui i loko o ka pathogenesis o keia kāna hana haawi hypothalamic dysfunction. Haʻi'ōlelo ano o ka Kāohiʻana a me ka hana i ho'ākāka 'lapaʻau no Prader-Willi maʻi pale ka manawa' ole-existent.

Ma ka hooulu ana o ka maʻi, he mea mau kūlana. Ma hope iho o ka hanau ana o ke keiki ua kaulana loa hypotonia. Nā symptoms i i'ōlelo ai i hiki ole na keiki e noho'na makaainana i ulu ka neʻe 'ana, a me ka, hewa nui o nā mea a pau, hiki ole i ka waiu, pela oe i, e hanai ana ia lakou, mai ka pipette' ole ma o ka Tube. I ka hopena o ka nui Muscle hypotonia a hoolohi ho okumu o ka locomotor kūpaʻa oihana - hiki ole keiki paʻa koʻu poo mai, noho, etc. I hou, he mea i ka welelau o ka hypothermia ..

Ka hooulu ana o ka mea e hiki mai ana ke kahua i wahi i loko o kekahi mau pule (mahina), i hookuu ia ma ka hopena o ka mua a me ka hoʻomaka o ka lua o ka makahiki o ke ola. i hoemiia Symptoms o hypotension, a ulu bulimia, ma i na keiki i ka mahina a eia i ka pololi, ka mea, e 'Imi huli no kaʻai. E like me ka hopena, e hoʻomaka e hoʻoikaika i obesity, a i ka loa kiʻiona ano o ka puunaue ana o subcutaneous momona - loa no ka mea, ua aia ma luna o ka proximalʻaoʻao (puhaka, a me ka poohiwi) a me ke kino, no laila, e na lima a me na wawae i disproportionately uuku palaki. Eia hou, ma keia pae ana o ka maʻi hoike mai ai ia ia iho noʻonoʻo retardation: keakeaia'ku, ka olelo, hua'ōlelo lilo loa i kaupalena '. Wehewehe aku ma ka muli o hypogonadism: na keiki ka mea, ua hoikea mai oia, i loko o hypoplasia o ka penis i kaikamahine - i loko o ka hypoplasia o ka labia. Ma ka hapanui o hoopii, Prader-Willi maʻi pale ua pu ma mimikō mellitus.

Ke kumu no kaʻike, o keia maʻi o ka 'ike o ka lākou o typical symptoms, like cytogenetic haʻawina a me ka karyotyping i hōʻike i kekahi peculiarities. Mau e hoomaopopo ka papa kuhikuhiE hui elua o ka lapaʻau hoailona: malamaia mai ka hanau i ka makahiki ekolu o ka makahiki, a hoike mai ai ia ia iho ma ka makahiki hou ma mua ekolu. Ka mua pūʻulu o na hoailona nā: haʻahaʻa hanau ke kaupaonaʻana, a me ka ai ana hypotonia pilikia. Muli o kona kulana pinepine, ka makuahine i aku nei au loa nawaliwali, maʻule fetal neʻe i loko o ka perinatal wā. I kekahi manawa, i ka eono mahina kahiko i ka mahuahua drowsiness, ke kāʻili 'ana, lethargy a me ka hiamoe apnea. Characteristically hoolohi psychomotor ulu a me ka dysmorphia (almond- kinona o nā maka, he akea bifrontalny anawaena, a kuu iho kihi o ka waha).

Prader-Willi maʻi pale mea he phenotypic ano me congenital maʻi like hypothyroidism, i ua i wehewehe aku e muscular hypotonia, excessive palapala moʻopane o ke kaikea ma ke typical kula hoolohi psychomotor ulu a me ka ulu ana.

Ma nānaina o ka loaʻa nui o ka palahalaha kaua o ka maʻi, loaʻa kona inoa, mai ka mua hōʻike lākou mau kānāwai, he mea kekahi huikau. Muli o kona kulana pinepine, ua kapaia Prader-Willi maʻi pale like me ka "maʻi Villi Brandta", eia nae o ka maʻi i loa he hope, e hana me ka Kelemānia politician Willy Brandt, ka mea i ka ha Pekelala Kaulike o Germany (1969-1974).