Russell-kālā maʻi pale: mea, lalau mai, symptoms, lapaʻau

Hoikehonua, lapaau i ike i kekahi wahi lihi iki o ka maʻi. mea nani maikai kekahi o ia mau mea, ma luna o nā kumu a me nā nohoʻana o nā pūʻulu o nā kānakaʻepekema hana ma ka makehewa. Part loaa maʻi, oiai kekahi poe i hoʻomaopop 'ana i. Kekahi mau maʻi mea congenital Russell-kala, maʻi pale.

Hiʻona o ka maʻi

Aia i Pelekane'ē aʻe: aʻu kala-Russell dwarfism, SSR.

Russell A. a me ka H. K. kala, - pediatricians, ka poe i ua këia i ka prenatal developmental hoʻopaneʻe 'ia ana.

Russell-kala, maʻi pale mea he congenital maʻi. Kona papa kuhikuhiE hiʻona o ke kali hou aku i loko o physical kūpono 'ana i hāpai keiki, i loko o' ana, infringed i ke kahua o ka iwi i ke keiki ka. I ka wā e hiki mai, aole paha e hope ma mua o ka panina fontanelle.

Kumu o ka hooilina i nō ike ole ia, ma ka hapanui manawa he mea i kekahi kahua.

Ka maʻi i loko o ia lŘlŘ kekahi kanaka no 30 000. Na ke keka o ka ulu i ka maʻi ua i loli.

Nā kumu o ka maʻi pale o Russell-kala,

I ka papa kuhikuhiE kumu o ka maʻi i loa aʻe 'ana ma ka pae ana o aaiaoe?. A me ka palapala o ka hoʻoili mea,ʻaʻole no ke periodical a systemic.

Loa pinepine e ae mai ka chromosome 7 (10% o ka hoopii), 11, 15, 17, 18. He mau chromosomes a me nā kuleana no ka ulu ana o kanaka. Ma ka hapanui o na hihia i kēia mea ku pono i ka mea ana i kekahi keiki e komo oukou i elua kope o ka chromosome mai o ka makuahine. Keia kanawai ua kapaia ka maternal uniparental disomy.

Mawaho symptoms o ka maʻi

Ma ka hanau ana o ke keiki me ka maʻi pale o Russell-kala, i keʻano uuku kaumaha, IeAUPIIe, IAa IO i oi aku mamua o 2500 g., Eia nae hāpai keiki ua kuhi piha-manawa. Lōʻihi me kahi o 45 knm, me makahiki, ua 'aʻole i hoʻonā a me ka ulu retardation mālama i loko o nā mākua (nā wāhine mai i ku iki oi aku ma mua o 150 knm i loko o nā kānaka ma mua o 150 knm) i ka pilikia. Naʻe, ke kaumaha nei oo e ku i ka elemakule, i kekahi hihia i oi aku ma mua o maʻamau.

Undergoing loli a me urogenital'ōnaehana, no kekahi laʻana, he mea cryptorchidism (he kāna hana i loko o i ka hoʻi i ole aia i loko o ko lākou mau wahi), hypospadias (urethra wehe atypical no keia wahi), hypoplasia o ka penis a me ka scrotum (underdevelopment).

Externally, Russell-kala maʻi pale ua pū akula nō hoʻi. He kāheaʻia ma ke kino asymmetry. Ka mea, e loli ai ka maka a me ka kumu, a me ka lōʻihi o nā wāwae a me nā mea kaua.

Ua loli ai Russell-kala, maʻi pale (lapaau o ka maʻi hiki ke loaʻa i loko o ka 'atikala), a ma luna o ka maka. Part o ka puniu wale no, i ka lolo, nui ae la ka e like me ka mua hapa o ka ia, a me ka mea ulu mea maopopo disproportionate. Helehelena shape kohu i kekahi triangle ma i ka convex lae, a me ka nui like 'ole o ka mandible , a me ka waha ua me ka nui loa hoemiia. Keia ua kapa psevdogidrotsefaliya. Lehelehe pilipaa a me nā kihi iki kuu iho (i ka hopena o ka "carp waha"). Ka lani Ua kiʻekiʻe, ma kekahi hihia ia paha e ka mauae. Pepeiao nei iluna ma ka hapanui hihia.

Mawaena o ka mea e hele pū ana mawaho symptoms i:

• 'aʻe' ana i ke kahua o subcutaneous momona;
• pilikia umauma;
• lordosis i loko o ka lumbar māhele (ka convexity o ka spine mua);
• curvature o ka lima iki.

Nā maʻi o na nā loko

Ma waho aʻeo ia mawaho me na haunaele, ua pinepine mālama nō, a me ka na pilikia o ke kino. Russell-kālā maʻi pale (symptoms pili me kaʻole helehelena, e like me ka ho'ākāka 'luna) pili i nā puʻupaʻa aie i kā lākou ole ho okumu (horseshoe kinona, ? Anoe? Aiey o kaʻaʻa puʻuwai pelvis, acidosis tubules).

No nā mea maʻi, nānā 'ole o ko lākou ke keka ano o ka wanaʻao puberty. I ka 30% o ka hihia helu kuhi puke i ka makahiki o ka ma kahi o 6 makahiki. Keia ua pololei e pili ana i ka mea i loaʻa o ke gonadotropin ovarian stimulation ( 'īnea i hormones dala nunui hoonuiia).

Akā, manao ua maopopo, hoopaa mai la.

Russell-kala, maʻi pale:ʻike,

I ka maʻi ua diagnosed i kakahiaka kamaliʻi. Oia ka hoʻoholo ua i ma ka pediatrician, e kiai ana i ka maʻi keiki. Eia naʻe, ma ka hou ana i ka mau loina i lawe mai, a me kela keʻena hoʻokolohua ho'āʻo a me nā ho'āʻo ma:

1. Hoomaopopo ana i ka nui o ke koko kōpaʻa. Loa pinepine na keiki i ke diagnosed me "Russell-kala maʻi pale", i haʻahaʻa koko monakō koko pae.
2. Hoao no ka chromosomal abnormalities. Ma ka hapanui o hoopii, i kēia mau pilikia i loaʻa.
3. Hoʻoholo 'ana i dala o ka ulu hōmona. Ma keia maʻi he mea he deficiency.
4. Keia hookolokolo ana o ka ho okumu ana o ka iwi. Kēia Ua koi 'ia ma ka mea e loa hoʻopau i nā kumu, a ma kekahi manawa e haawi aku i ka wahahee maikaʻi result.

Hiʻona o ka lapaʻau

I ka papa kuhikuhiE rula o ka iapaau ana: 'eleuʻike. Inā 'oe e ole e ia i ka manawa, i kou kauka e hele auwana, a hana hydrocephalus lapaʻau, akā, ka mea,' aʻole i loaʻa i ka maʻi i loko o kēia mau keiki.

Ma ka hapanui o hoopii, e like me nā mea maʻi ia e loaa ulu hōmona i loko o ka kekahi kumu, a ua ulu ke kauka.

Eia hou, ka pinepine hoʻohana a me nā ano:

• physical Inc, i AIM e hoʻoikaika 'na nāʻiʻo;
• ka hoʻonaʻauao kūikawā.

Ma ka papa o ka lapaau i ka mea ia manawa lawe i kekahi mau hoʻomalu.

• kauka-geneticist i mea hiki ke huai ae i ka maʻi ma kona loa hoʻomaka;
• Dietitian paha gastroenterologist, i ka papa kuhikuhiE hana mea e kūkulu i kekahi kūikawāʻai i AIM e mahuahua ulu;
• endocrinologist, ka mea e koho i ulu hōmona;
• psychologist.

E hoʻoholo i ka hopenaʻoi loa o ka iapaau ana ke e, e hoomahuahua i ka ulu ana. Ka wā pono papahana noaia i loko o ka makahiki mua o ka lapaʻau ke hoʻokō i nā hualoaʻa ma ka 8 knm.