Achondroplasia

Achondroplasia hosha yekukura kwemapfupa inokonzeresa mhando yakajairika yeudiki.

Achondroplasia nderimwe reboka rematambudziko anonzi chondrodystrophies, kana osteochondrodysplasias.

Achondroplasia inogona kupihwa nhaka seyakazvimiririra hunhu, izvo zvinoreva kuti kana mwana akawana iro rakakanganisika geni kubva kune mumwe mubereki, mwana anozove nedambudziko. Kana mumwe mubereki aine achondroplasia, mucheche ane 50% mukana wekugara nhaka chirwere. Kana vaviri vabereki vaine mamiriro, mikana yemucheche yekukanganiswa inowedzera kusvika pa75%.

Nekudaro, kazhinji kesi dzinoonekwa sekuchinja kungoitika. Izvi zvinoreva kuti vabereki vaviri vasina achondroplasia vanogona kubereka mwana ane chirwere.

Izvo zvakajairika kutaridzika kweachondroplastic dwarfism kunogona kuonekwa pakuzvarwa. Zviratidzo zvinogona kusanganisira:

• Kuonekwa kusingaite kwemaoko nenzvimbo inoramba iripo pakati peminwe mirefu nemhete
• Akakotamisa makumbo
• Kupera kwemhasuru toni
• Isingaenzaniswi yakakura musoro-kune-muviri saizi mutsauko
• Yakakurumbira huma (yekumberi mabhosi)
• Akapfupisa maoko nemakumbo (kunyanya ruoko rwepamusoro nechidya)
• Pfupi chimiro (yakanyanya pazasi pevhareji kureba kwemunhu wezera rakaenzana uye bonde)
• Kuderedza kwepamuviri (spinal stenosis)
• Spine curvature inonzi kyphosis uye lordosis

Munguva yepamuviri, prenatal ultrasound inogona kuratidza yakawandisa amniotic fluid yakatenderedza mwana asati azvarwa.

Kuongororwa kwemucheche mushure mekuzvarwa kunoratidza kuwedzera mberi kumberi-kumashure-kukura kwemusoro. Panogona kuve nezviratidzo zvehydrocephalus ("mvura pauropi").

X-ray yemapfupa marefu anogona kuratidza achondroplasia mumucheche.

Iko hakuna chaiyo kurapwa kweachondroplasia. Kushamwaridzana kwakabatana, kunosanganisira musana stenosis uye kudzvanya kwetambo, zvinofanirwa kurapwa kana zvichikonzera matambudziko.

Vanhu vane achondroplasia havawanzo kusvika pamamita mashanu nehafu pakureba. Ungwaru huri munzvimbo yakajairika. Vacheche vanogamuchira iyo isina kujairika geni kubva kuvabereki vaviri havawanzo kurarama kupfuura mwedzi mishoma.

Zvinetso zvehutano zvinogona kukura zvinosanganisira:

• Kufuridzira matambudziko kubva padiki yekumusoro nzira yemhepo uye kubva pakamanikidzwa kwenzvimbo yeuropi inodzora kufema
• Lung matambudziko kubva kudiki ribcage

Kana paine nhoroondo yemhuri yeachondroplasia uye iwe uchironga kuita vana, unogona kuona zvichibatsira kutaura kune wako wekuchengetedza hutano.

Genetic counselling inogona kubatsira kune vangangove vabereki kana mumwe kana vese vane achondroplasia. Nekudaro, nekuti achondroplasia inowanzo kukura nekukurumidza, kudzivirira hakuwanzo kuitika.

Hoover-Fong JE, Horton WA, Hecht JT. Kukanganiswa kunosanganisira transmembrane receptors. Mune: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 716.

Krakow D. FGFR3 kusagadzikana: thanatophoric dysplasia, achondroplasia, uye hypochondroplasia. Mune: Copel JA, D'Alton ME, Feltovich H, et al, eds. Kufungidzira Kufungidzira: Fetal Kuongorora uye Kuchengeta. 2nd ed. Philadelphia, PA: Elsevier; 2018: chitsiko 50.