Heritable kanaka maʻi. Papa Inoa. Ka loa, he pono ole, a pilikia maʻi

I ka hoʻomaka o ka 21st kenekulia, eia oi aku 6 tausani. Ano o hereditary ka maʻi. Ano, ma na kulanui ma ke ao nei e aʻo hereditary maʻi o ke kanaka, i papa inoa mea nui.

Ke kane kanaka i oi aaiaoe mā, a ua emi mai paha, e hapai i ke olakino keiki. Oiai na kumu i ole loa nā kumu hoohalike o malformations, akā, ua hiki ke kuhi ana ma ka ae 100-200 makahiki, ua 'epekema e Makuakane me kēia mau nīnūnē.

He aha mea he aaiaoe maʻi? Mea Maluna

Aaiaoe? Like me ka 'epekema, hoomaka ae la kona hele ana i loko o 1900 a me ka mahele. Aaiaoe maʻi i ka poe mea i pili i abnormalities ma ka aaiaoe 'ole o ke kanaka. Deviations kānāwai i loko o kekahi'ōewe a he mau.

Hereditary maʻi:

1. Autosomal Hoʻohaku.
2. Autosomal recessive.
3. Sex-ua hoʻopili.
4. Chromosomal maʻi.

Ka pahiki o ka maʻi he keiki ka me autosomal Hoʻohaku haiahū kūmau - 50%. Ka wā i autosomal recessive - 25%. Maʻi, ke keka-ua hoʻopili, nō ka poʻe i hāpai i ka pōʻino, ua make X chromosome.

Nasledstvennnye maʻi

Eia kekahi laʻana o ka maʻi, e like me ka vysheozvuchennoy Mea Maluna. No laila, i ka Hoʻohaku-recessive maʻi ioiinyony:

• Marfan maʻi pale.
• Papa'āweʻaweʻa kemika lōlō.
• Thalassemia.
• Albright ka maʻi.
• . Otosclerosis.

recessive:

• Phenylketonuria.
• Ichthyosis.
• Other.

Sex-ua hoʻopili mai:

• Hemophilia.
• Muscular Dystrophy.
• Farben maʻi.

Nō hoʻi ma ka hālāwai hoʻolohe manaʻo chromosomal hereditary kanaka maʻi. Papa Inoa o ka chromosomal abnormalities kēia:

• Shereshevskogo-Turner maʻi pale.
• Klinefelter maʻi pale.
• Popoki ka uwēʻana maʻi pale.
• Down ka maʻi pale.

Ma polygenic maʻi ioiinyony:

• Dislocation o ke ki kala (congenital).
• Heart mā.
• Schizophrenia.
• Mauae lehelehe a me ka kīleo.

Ka loa, he pono ole aaiaoe abnormality - syndactyly. Ie kuʻi nukeliu o ka manamanalima. Syndactyly - he 'aʻe' ana o ka loa e noho malie hoi, a kamaʻilio maʻoki kino. Naʻe, i kēia haiahū kūmau ua pu ma nā oi loa syndromes.

He aha maʻi e noho pilikia loa

Mawaena o ka poe maʻi i heluʻia ke hoomaopopo i ka noho pilikia loa kanaka hereditary maʻi. Papa inoa ia ninoieo o nāʻano o nā anomalies, kahi chromosomal trisomy ia lŘlŘ paha polysomes,ʻo ia hoʻi, ka wā kahi o ka paʻa o chromosomes ua malama i ke alo o ke 3, 4, 5 a oi. Chromosome 1 ua loaʻa a me kahi 2. pau kēia mau deviations mea ku pono i ka 'aʻe' ana i ke kelepona hele mahele.

Ka noho pilikia loa ana o kanaka hereditary kāna hana:

• Edwards 'maʻi pale.
• Spinal muscular amyotrophy.
• Patau maʻi pale.
• Canavan maʻi.
• Hemophilia.
• Nā maʻi.

No ka mea, no kēia mau 'aʻe', ola ka makahiki a elua i ke keiki. Ma kekahi mau hihia, na deviations i ole ai nui, a me ka keiki ke ola mai ka 7, 8 a he 14 makahiki.

Down ka maʻi pale

Down maʻi pale ua ili mai iā ia, ina makua hoʻokahi a 'elua i nā moku halihali mokulele o ka hemahema chromosome. More manaʻoi, ka maʻi pale ua pili me ka trisomy 21 chromosomes (m. E. 21 chromosome 3 kahi o 2). Children me Down maʻi pale i ka squint, ka crease i loko o ka'ā'ī, ka'āno'ē kinona o ka pepeiao, naau pilikia a me ka noʻonoʻo 'retardation. Akā, no ka mea ola o ke keiki pilikia chromosomal abnormality hiki ole ke paa.

Ano, i ka 'ikepili helu hōʻike ana mai 1 700-800 keiki i hanau i keia maʻi pale. Women ka poe i makemake e i ke kamaiki ma hope o 35 hou paha, e hanau ana i keia pēpē. Pahiki hanohano 1 i 375. Akā, i ka wahine, i ka hanau ana o ke keiki reshivshayasya 45 i ka pahiki o 1 a hiki i 30.

Akrokraniodisfalangiya

ʻAno o ka anomaly hooilina - autosomal Hoʻohaku. Kumu maʻi pale - he 'aʻe' ana o chromosome 10. I ka 'epekema, ua kapaia keia maʻi akrokraniodisfalangiya ina simpler, ka Apert maʻi pale. Wehewehe aku ma nā hiʻona o ka 'ole o ke kino, e like me:

• brahikefaliya ( 'aʻe' ana o ka laula a me ka lōʻihi o ka puniu wale no);
• coronary kuʻi nukeliu o ka puniu wale no sutures, malaila malama hypertension (kiʻekiʻe ke koko, i loko o ka puniu wale no);
• syndactyly;
• koʻikoʻi lae;
• noʻonoʻo retardation pinepine e ku e ia i ke kāʻei kua o ka iwipoo e compresses i ka lolo, a aole e haawi ala i ka nā aʻalolo keena.

Kēia manawa, na keiki a me Apert maʻi pale,ʻoki kino ua hoakaka e hoʻonui i ka puniu wale no, e hoʻihoʻi ke koko. A noʻonoʻo underdevelopment pono stimulants.

Inā he 'ohana i ke keiki me kaʻike, no ka maʻi pale, i ka pahiki i ka mau keiki e e hānau ai me ka ia deflection, kiʻekiʻe loa.

Maʻi pale hauʻoli dolls a me Canavan maʻi - van Bogart - Bertrand

E noonoo oe i ka lāliʻi a me kēia mau maʻi. E kuhikuhi i Angelman maʻi pale hiki e henehene kou i loko o ka 3-7 makahiki. Keiki i cramps, ilihune digestion, pilikia me ka ōhumu o ka neʻe 'ana. Ka hapa nui o ia squint a me ka pilikia a me na nāʻiʻo o ka maka, i ka ke kumu ma luna o ka maka pinepine maliu oluolu mai la. Ana o ke keiki ua nui koiia mai. No ka mea, kauka mea ike i ka hele i ka wa a ke keiki hoao ana. Makua i loko o ka hapanui o na hihia ka mea, e i ike he aha ana lā, a hiki hou no laila, me ka mea ia ua pili. A iki hope, nō hoʻi ka mea i ka mea hiki ole ke olelo, e ho'āʻo i kekahi mea i maliu mumble.

Ke kumu i ke keiki hoike mai ai ia maʻi pale - keia mea he pilikia i loko o ka 15 chromosome. Ua kō ka maʻi o loa pohihihi - 1 hihia no 15 tausani hanau ..

Other maʻi - Canavan maʻi - wehewehe aku ma ka mea ana i ke keiki i ka nawaliwali Muscle leo, ka mea, ua pilikia moni 'ia ai. I ka maʻi ua kena ae la ia e lesions o ka Central ko mākou hopohopo nenoaiu. Ke kumu - o ka lilo ana o ka hookahi'ōewe i loko o ka chromosome 17. Nolaila, e luku lolo nā aʻalolo keena me ka holumua ai māmā.

Symptoms o ka maʻi hiki ke ike ia ma ka 3-mahina makahiki. ua hoikeia Canavan maʻi like penei:

1. Muscular hypotonia.
2. Macrocephaly.
3. Ke kāʻili 'ana ma ka mahina o ka makahiki.
4. Ke keiki mea i hiki ke hoopaa i kona poo pono.
5. Ma hope o 3 mahina, a mahuahua nui tendon reflexes.
6. He nui na keiki e makapō i 2 makahiki.

E like me 'oe ke ike, nui loa ka nohona kanaka hereditary kāna hana. List hōʻike mai iā ia wale nō me lakou i mea hoike, he mamao loa mai ka piha.

It E e kaulana ia ina nā makua i ka 'aʻe' ana i kekahi, a me ka ia'ōewe, i ka manawa o ka loaa i ka maʻi keiki i nui, akā, inā anomalies ma kekahi nā'ōewe, ua hiki ole e makau. Ua ua ike ia ma ka 60% o ka hoopii, chromosomal abnormalities ma ka fetus alakai i ka miscarriage. Akā, 40% o kēia mau keiki i hanau ai, a kaua no ko lakou mau ola.