Achondroplasia

Achondroplasia cuta ce ta ci gaban ƙashi wanda ke haifar da nau'in dwarfism da aka fi sani.

Achondroplasia ɗayan rukuni ne na rikice-rikice da ake kira chondrodystrophies, ko osteochondrodysplasias.

Ana iya gadon Achondroplasia a matsayin babbar dabi'a ta autosomal, wanda ke nufin cewa idan yaro ya sami lalatacciyar kwayar halitta daga ɗayan iyayen, yaron zai kamu da cutar. Idan mahaifi daya yana da cutar achondroplasia, jariri yana da damar kashi 50% na gadon cuta. Idan iyaye biyu suna da yanayin, damar kamuwa da jarirai ya karu zuwa 75%.

Koyaya, mafi yawan lokuta suna bayyana kamar maye gurbi. Wannan yana nufin cewa iyaye biyu ba tare da achondroplasia na iya haifar jariri da yanayin.

Za'a iya ganin bayyanar yanayin dwarfism achondroplastic lokacin haihuwa. Kwayar cutar na iya haɗawa da:

• Bayyanar hannu mara kyau tare da sarari mai ɗorewa tsakanin yatsun hannu masu tsayi da tsayi
• Owedafafu masu lankwasa
• Rage sautin tsoka
• Bambancin girman girman kai-zuwa-jiki
• Fitaccen goshi (shugaban gaba)
• Eneduntataccen hannu da ƙafafu (musamman hannu da cinya na sama)
• Shortanƙancin gajere (mai mahimmanci ƙasa da matsakaicin tsayi na mutumin da shekarunsa suka girma da kuma jima'i)
• Rowididdigar layin kashin baya (stenosis spinal)
• Abun juyayi na kashin baya wanda ake kira kyphosis da lordosis

A lokacin daukar ciki, duban dan tayi zai iya nuna yawan ruwan ciki da ke kewaye da jaririn da ba a haifa ba.

Binciken jariri bayan haihuwa ya nuna girman girman kai gaba da baya. Za a iya samun alamun hydrocephalus ("ruwa a kwakwalwa").

X-haskoki na dogayen ƙasusuwa na iya bayyana achondroplasia a cikin jariri.

Babu takamaiman magani don achondroplasia. Abubuwan rashin daidaito masu alaƙa, gami da ƙin jijiyoyin baya da matsi na lakar, ya kamata a kula da su lokacin da suka haifar da matsala.

Mutanen da ke da cutar achondroplasia ba safai suke kai ƙafa 5 (mita 1.5) ba. Hankali yana cikin kewayon al'ada. Yaran da ke karɓar kwayar halittar mahaifa daga iyayen biyu galibi ba sa rayuwa sama da monthsan watanni.

Matsalolin kiwon lafiya waɗanda zasu iya haɓaka sun haɗa da:

• Matsalar numfashi daga ƙaramar hanyar iska ta sama da kuma matsin lamba a yankin ƙwaƙwalwar da ke sarrafa numfashi
• Matsalar huhu daga karamin haƙarƙari

Idan akwai tarihin iyali na achondroplasia kuma kuna shirin samun yara, kuna iya samun taimako don magana da mai ba ku kiwon lafiya.

Bayar da shawara game da kwayar halitta na iya zama taimako ga iyaye masu zuwa yayin da ɗayan ko duka biyun suka kamu da cutar. Koyaya, saboda achondroplasia galibi yana bunkasa ne kai tsaye, yin rigakafin ba koyaushe bane.

Hoover-Fong JE, Horton WA, Hecht JT. Rikicin da ke tattare da masu karɓa na jini. A cikin: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 716.

Rashin lafiyar Krakow D. FGFR3: fiye da dysplasia, achondroplasia, da hypochondroplasia. A cikin: Copel JA, D'Alton ME, Feltovich H, et al, eds. Hoto na Jiyya: Ganewar asali da kulawa. 2nd ed. Philadelphia, PA: Elsevier; 2018: babi na 50.