Ciwon Apert

Ciwon Apert cuta ce ta kwayar halitta wacce ɗakunan da ke tsakanin ƙasusuwan kwanyar suka kusanci yadda aka saba. Wannan yana shafar surar kai da fuska. Yaran da ke fama da ciwon Apert galibi suna da nakasar hannu da ƙafa.

Ciwon Apert zai iya yaduwa ta hanyar dangi (wanda aka gada) a matsayin babban tasirin autosomal. Wannan yana nufin cewa mahaifi ɗaya ne ke buƙatar ƙaddamar da lalatacciyar hanyar haihuwa don yaro ya sami yanayin.

Wasu lokuta na iya faruwa ba tare da sanannen tarihin iyali ba.

Ciwon Apert yana haifar da ɗayan canje-canje biyu zuwa FGFR2 kwayar halitta Wannan nakasar haihuwa ta haifar da wasu daga cikin dinkakkun kasusuwa na kokon kai don rufewa da wuri. Ana kiran wannan yanayin craniosynostosis.

Kwayar cutar sun hada da:

• Kullewar sutura da wuri tsakanin ƙasusuwan kwanyar, wanda aka lura dashi ta hanyar hawa tare da dinki (craniosynostosis)
• Cututtukan kunne akai-akai
• Fusion ko tsananin yanar gizo na yatsu na 2, 3, da na 4, galibi ana kiransu "mitten hands"
• Rashin ji
• Manya ko ƙarshen rufe wuri mai laushi a kwanyar jariri
• Zai yuwu, jinkirin haɓaka ilimi (ya bambanta daga mutum zuwa mutum)
• Fitattun idanu ko idanuwa
• Mai tsananin rashin ci gaba na tsakiya
• Kwarangwal (gaɓo) na rashin lafiya
• Gajeren gajere
• Shafan yanar gizo ko yatsun yatsun kafa

Sauran cututtukan cuta da yawa na iya haifar da kamannin fuska da kai, amma ba sa haɗa hannu da ƙafa mai tsanani na ciwon Apert. Wadannan irin wadannan matsalolin sun hada da:

• Ciwon Kafinta (kleeblattschadel, nakasar kwanyar cloverleaf)
• Crouzon cuta (craniofacial dysostosis)
• Ciwon Pfeiffer
• Saethre-Chotzen ciwo

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki. Hannu, kafa, da kwanyar x-ray za'a yi. Ya kamata a yi gwajin ji a koyaushe.

Gwajin kwayoyin halitta na iya tabbatar da gano cutar Apert.

Jiyya ya ƙunshi tiyata don gyara ƙarancin ciwan ƙashi na kwanyar, da kuma haɗakar yatsu da yatsun kafa. Yaran da ke da wannan cuta ya kamata a bincika su ta musamman ƙungiyar tiyata ta craniofacial a cibiyar kula da lafiyar yara.

Yakamata a nemi masanin ji idan akwai matsalolin rashin ji.

Cungiyar Craniofacial na yara: ccakids.org

Kira mai ba ku sabis idan kuna da tarihin iyali na cutar Apert ko kuma kun lura cewa ƙwanƙwan kanku ba ya ci gaba koyaushe.

Bayar da shawara game da kwayar halitta na iya taimaka idan kuna da tarihin iyali na wannan matsalar kuma kuna shirin yin ciki. Mai ba da sabis ɗinku na iya gwada jaririnku game da wannan cuta a lokacin ɗaukar ciki.

Acrocephalosytactyly

• Aiki tare

Goldstein JA, Losee JE. Yin aikin filastik na yara. A cikin: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli da Davis 'Atlas na Ciwon Lafiyar Jiki na Yara. 7th ed. Philadelphia, PA: Elsevier; 2018: babi na 23.

Kinsman SL, Johnston MV. Abubuwa masu haɗari na tsarin kulawa na tsakiya. 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 609.

Mauck BM, Jobe MT. Abubuwa na al'ada na hannu. A cikin: Azar FM, Beaty JH, Canale ST, eds. Bellungiyar Orthopedics ta Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: babi na 79.

Robin NH, Falk MJ, Haldeman-Englert CR. FGFR da ke tattare da cututtukan craniosynostosis. GeneReviews. 2011: 11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. An sabunta Yuni 7, 2011. An shiga Yuli 31, 2019.