Lefu la Fragile X

Fragile X syndrome ke boemo ba liphatsa tsa lefutso bo amang liphetoho karolong ea X chromosome. Ke mofuta o atileng haholo oa bokooa ba kelello ho bashanyana.

Fragile X syndrome e bakoa ke phetoho ea lefutso le bitsoang FMR1. Karolo e nyenyane ea liphatsa tsa lefutso e phetoa makhetlo a 'maloa sebakeng se le seng sa X chromosome. Ha u pheta-pheta, boemo bo tla etsahala haholoanyane.

The FMR1 liphatsa tsa lefutso li etsa protheine e hlokahalang hore boko ba hao bo sebetse hantle. Phoso liphatseng tsa lefutso e etsa hore 'mele oa hau o hlahise protheine e nyane haholo, kapa ho se be ho hang.

Bashemane le banana ba ka ameha ka bobeli, empa hobane bashemane ba na le chromosome e le 'ngoe feela ea X, katoloso e le' ngoe e fokolang ea X e kanna ea ba ama hampe haholo. U ka ba le lefu la X le fokolang esita le haeba batsoali ba hao ba se na lona.

Nalane ea lelapa ea lefu la X le fokolang, mathata a kholo, kapa kholofalo ea kelello e kanna ea se be teng.

Mathata a boitšoaro a amanang le lefu la X le fokolang a kenyelletsa:

• Bothata ba Autism
• Ho lieha ho khasa, ho tsamaea kapa ho sotha
• Ho otlanya letsoho kapa ho loma ka letsoho
• Boitšoaro bo sa tsitsang kapa bo potlakileng
• Bokooa ba kelello
• Ho lieha ho bua le puo
• Tloaelo ea ho qoba ho shebana le motho

Lipontšo tsa 'mele li ka kenyelletsa:

• Maoto a bataletseng
• Manonyeletso a tenyetsehang le molumo o tlase oa mesifa
• Boholo ba mmele
• Phatla kapa litsebe tse kholo tse nang le mohlahare o hlahelletseng
• Sefahleho se selelele
• Letlalo le bonolo

A mang a mathata ana a teng ha a hlaha, ha a mang a ka 'na a se ke a hlaha ho fihlela kamora bocha.

Litho tsa lelapa tse nang le makhetlo a fokolang ho FMR1 liphatsa tsa lefutso li kanna tsa se be le bokooa ba kelello. Basali ba ka ba le nako ea ho ilela khoeli pele ho nako kapa ba ba le bothata ba ho ima. Banna le basali ba ka ba le mathata ka ho thothomela le tšebelisano-mmoho.

Ho na le matšoao a fokolang haholo a kantle ho lefu la X ho masea. Lintho tse ling tseo mofani oa tlhokomelo ea bophelo a ka li batlang li kenyelletsa:

• Sekhahla se seholo sa hlooho ho masea
• Bokooa ba kelello
• Mabele a maholo ka mora ho kena bohlankaneng kapa boroetsaneng
• Liphapang tse poteletseng litšobotsing tsa sefahleho

Ho basali, lihlong tse fetelletseng e kanna ea ba sesupo feela sa lefu lena.

Ho etsa liteko tsa liphatsa tsa lefutso ho ka fumana lefu lena.

Ha ho na kalafo e khethehileng ea lefu la X le fokolang. Sebakeng seo, koetliso le thuto li ntlafalitsoe ho thusa bana ba anngoeng ke tšebetso hore ba sebetse maemong a holimo ka ho fetisisa. Liteko tsa bongaka li ntse li tsoela pele (www.clinicaltrials.gov/) le ho sheba litlhare tse 'maloa tsa kalafo ea lefu la X le fokolang.

Motheo oa National Fragile X: fragilex.org/

Hore na motho o sebetsa hantle hakae ho latela boholo ba bokooa ba kelello.

Mathata a fapana ho latela mofuta oa matšoao. Li ka kenyelletsa:

• Ho tšoaetsoa khafetsa litsebeng ho bana
• Bothata ba ho oela

Fragile X syndrome e ka ba sesosa sa autism kapa mathata a amanang le eona, leha e se bana bohle ba nang le lefu la X le fokolang ba nang le maemo ana.

Keletso ea lefutso e ka ba molemo haeba u na le nalane ea lelapa lena ea lefu lena mme u rera ho ima.

Matšoao a Martin-Bell; Letšoao la Marker X

Hunter JE, Berry-Kravis E, Hipp H, Todd PK. FMR1 mathata. Litlhahlobo. 2012: 4. PMID: 20301558 e fetotsoe.ncbi.nlm.nih.gov/20301558/. E ntlafalitsoe ka la 21 November, 2019.

Kumar V, Abbas AK, Aster JC. Mafu a liphatsa tsa lefutso le a bana. Ka: Kumar V, Abbas AK, Aster JC, bahlophisi. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: khaolo ea 7.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.