Achondroplasia

Achondroplasia ndi vuto la kukula kwa mafupa lomwe limayambitsa mtundu wofala kwambiri.

Achondroplasia ndi amodzi mwamatenda omwe amatchedwa chondrodystrophies, kapena osteochondrodysplasias.

Achondroplasia atha kukhala wobadwa nayo ngati mkhalidwe waukulu wa autosomal, zomwe zikutanthauza kuti ngati mwana atenga jini losalongosoka kuchokera kwa kholo limodzi, mwanayo amakhala ndi vuto. Ngati kholo limodzi lili ndi achondroplasia, khanda limakhala ndi mwayi wokhala ndi matendawa 50%. Ngati makolo onse ali ndi vutoli, mwayi wokhudzidwa wa khanda ukuwonjezeka mpaka 75%.

Komabe, nthawi zambiri zimawoneka ngati kusintha kwadzidzidzi. Izi zikutanthauza kuti makolo awiri opanda achondroplasia atha kubereka mwana yemwe ali ndi vutoli.

Maonekedwe wamba a achondroplastic dwarfism amatha kuwoneka pobadwa. Zizindikiro zimaphatikizapo:

• Maonekedwe osazolowereka okhala ndi malo opitilira pakati pa zala zazitali ndi mphete
• Agwada miyendo
• Kuchepetsa kuchepa kwa minofu
• Kusiyana kwakukulu pamutu ndi thupi
• Wotchuka pamphumi (frontal bossing)
• Kufupikitsa manja ndi miyendo (makamaka mkono wakumtunda ndi ntchafu)
• Msinkhu wochepa (makamaka pansi pa msinkhu wautali wa munthu wazaka zofanana ndi kugonana)
• Kuchepetsa kwa msana (spinal stenosis)
• Mapangidwe amtsempha otchedwa kyphosis ndi lordosis

Pakati pa mimba, ultrasound yobereka ikhoza kuwonetsa amniotic madzimadzi ozungulira mwana wosabadwa.

Kuyesa khanda atabadwa kumawonetsa kukula kwakumaso kutsogolo ndi kumbuyo. Pakhoza kukhala zizindikilo za hydrocephalus ("madzi paubongo").

X-ray ya mafupa ataliatali amatha kuwulula achondroplasia wakhanda.

Palibe mankhwala enieni a achondroplasia. Zovuta zina zokhudzana ndi msana, kuphatikizapo kupindika kwa msana ndi kupsinjika kwa msana, ziyenera kuthandizidwa zikamabweretsa mavuto.

Anthu omwe ali ndi achondroplasia nthawi zambiri samatha kufika 1.5 mita (1.5 mita) kutalika. Luntha lili pamtundu woyenera. Makanda omwe amalandira jini yachilendo kuchokera kwa makolo onse samakhala patadutsa miyezi ingapo.

Mavuto azaumoyo omwe angakhalepo ndi awa:

• Kupuma kwamavuto kuchokera panjira yaying'ono yakumtunda komanso kupsinjika kwa malo amubongo omwe amawongolera kupuma
• Mavuto am'mapapo kuchokera ku nthiti yaying'ono

Ngati pali mbiri yabanja ya achondroplasia ndipo mukukonzekera kukhala ndi ana, mungapeze chothandiza kulankhula ndi omwe amakuthandizani.

Upangiri wa chibadwa ungakhale wothandiza kwa oyembekezera kukhala makolo pamene mmodzi kapena onse ali ndi achondroplasia. Komabe, chifukwa achondroplasia nthawi zambiri imayamba mwadzidzidzi, kupewa sikotheka nthawi zonse.

Hoover-Fong JE, Horton WA, Hecht JT. Zovuta zophatikiza ma transmembrane receptors. Mu: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 716.

Krakow D. FGFR3 zovuta: thanatophoric dysplasia, achondroplasia, ndi hypochondroplasia. Mu: Copel JA, D'Alton ME, Feltovich H, et al, olemba. Kujambula Kwam'mimba: Kuzindikira Kwa Mwana Mayi ndi Kusamalira. Wachiwiri ed. Philadelphia, PA: Elsevier; 2018: chap 50.