Ciwon Ellis-van Creveld

Ciwon Ellis-van Creveld cuta ce mai rikitarwa ta kwayoyin halitta wacce ke shafar ci gaban ƙashi.

Ellis-van Creveld ya mutu ne ta hanyar dangi (wanda aka gada). Lahani ne a cikin 1 na 2 kwayoyin cutar ciwo na Ellis-van Creveld (EVC kuma EVC2). Wadannan kwayoyin halittar suna kusa da juna akan chromosome daya.

Tsananin cutar ya banbanta daga mutum zuwa mutum. Ana ganin mafi girman yanayin yanayin tsakanin thean Amincewa na Old Order of Lancaster County, Pennsylvania. Ba kasafai ake samun sa'a ba a cikin jama'a.

Kwayar cutar na iya haɗawa da:

• Lipagaggen leɓe ko ɗanɗano
• Epispadias ko ƙwayar cuta (cryptorchidism)
• Fingersarin yatsu (polydactyly)
• Iyakantaccen motsi
• Matsalar ƙusa, gami da ɓata ƙusoshin ƙusa
• Gajeren hannaye da kafafu, musamman dantse da kuma kasan kafa
• Heightan gajere, tsakanin tsayi ƙafa 3.5 zuwa 5 (mita 1 zuwa 1.5) tsayi
• Rsean lokaci, ba ya nan, ko gashi mai kyau
• Matsanancin hakori, kamar su haƙoran haƙori, haƙoran da aka baje ko'ina
• Hakora da ke haihuwa (hakoran haihuwa)
• Jinkirtawa ko rasa hakora

Alamomin wannan halin sun hada da:

• Rashin haɓakar hormone
• Launin zuciya, kamar huji a cikin zuciya (atrial septal flapt), yana faruwa a kusan rabin dukkan al'amuran

Gwajin sun hada da:

• Kirjin x-ray
• Echocardiogram
• Za'a iya yin gwajin kwayar halitta don maye gurbi a daya daga cikin kwayoyin EVC guda biyu
• Kwarangwal x-ray
• Duban dan tayi
• Fitsari

Jiyya ya dogara da wane tsarin jiki ne abin ya shafa da kuma tsananin matsalar. Yanayin da kansa bashi da magani, amma yawancin rikitarwa ana iya magance su.

Yawancin al'ummomi suna da ƙungiyoyin tallafi na EVC. Tambayi mai ba da jinya ko asibitin gida idan akwai guda a yankinku.

Yawancin jarirai masu wannan yanayin suna mutuwa tun suna ƙuruciya. Mafi yawanci wannan yana faruwa ne saboda ƙaramin kirji ko raunin zuciya. Haihuwar jarirai abu ne gama gari.

Sakamakon ya dogara da wane tsarin jiki yake da shi kuma har zuwa menene tsarin jikin yake. Kamar yawancin yanayin kwayar halitta wadanda suka shafi kasusuwa ko tsarin halittar jiki, hankali na al'ada ne.

Matsaloli na iya haɗawa da:

• Kasusuwa mara kyau
• Matsalar numfashi
• Cutar cututtukan zuciya (CHD) musamman cututtukan atrial (ASD)
• Ciwon koda

Kirawo mai ba ku sabis idan yaranku na da alamun wannan ciwo. Idan kana da tarihin iyali na cutar ta EVC kuma ɗanka yana da wata alama, ziyarci mai baka.

Shawarwarin kwayoyin halitta na iya taimaka wa iyalai su fahimci yanayin da yadda za su kula da mutumin.

Ana ba da shawarar yin shawarwari game da kwayar halitta don iyaye masu zuwa daga ƙungiyar haɗari mai haɗari, ko waɗanda ke da tarihin iyali na cutar ta EVC.

Chondroectodermal dysplasia; EVC

• Polydactyly - hannun jariri
• Chromosomes da DNA

Chitty LS, Wilson LC, Ushakov F. Ganewar asali da kuma kula da rashin daidaito na mahaifa. A cikin: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Maganin Fetal: Kimiyyar Asali da Aiki. 3rd ed. Philadelphia, PA: Elsevier; 2020: babi na 34.

Hecht JT, Horton WA. Sauran cututtukan gado na ci gaban ƙashi. 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: chap 720.