Lefu la Ellis-van Creveld

Lefu la Ellis-van Creveld ke boloetse bo sa tloaelehang ba liphatsa tsa lefutso bo amang kholo ea masapo.

Ellis-van Creveld e fetisoa ka malapa (a futsitsoeng). E bakoa ke ho holofala liphatseng tsa lefutso tsa 1 ho tse 2 tsa Ellis-van Creveld syndrome (EVC le EVC2). Liphatsa tsa lefutso tsena li behiloe haufi le tse ling ka chromosome e tšoanang.

Bothata ba lefu lena bo fapana ho ea ka batho. Sekhahla se phahameng ka ho fetisisa sa boemo se bonoa har'a baahi ba Old Order Amish ba Lancaster County, Pennsylvania. Ke ntho e sa tloaelehang ho batho ka kakaretso.

Matšoao a ka kenyelletsa:

• Molomo o petsohileng kapa mahalapa
• Epispadias kapa testicle e sa rateheng (cryptorchidism)
• Menoana e meng (polydactyly)
• Mehato e lekanyelitsoeng ea motsamao
• Mathata a lipekere, ho kenyelletsa le lipekere tse haellang kapa tse holofetseng
• Matsoho le maoto a makhuts'oane, haholo sephakeng le leoto le tlase
• Bolelele bo bolelele, lipakeng tsa limithara tse 3,5 ho isa ho tse 5 (1 ho 1.5 m)
• Moriri o fokolang, o sieo kapa o motle
• Ho sa tloaelehang ha meno, joalo ka menoana ea thakhisa, meno a arohaneng haholo
• Meno a teng nakong ea tsoalo (meno a tlhaho)
• Meno a liehang kapa a sieo

Lipontšo tsa boemo bona li kenyelletsa:

• Ho haella ha hormone ea kholo
• Liphoso tsa pelo, joalo ka lesoba pelong (sekoli sa atrial septal), li etsahala hoo e ka bang halofo ea linyeoe tsohle

Liteko li kenyelletsa:

• X-ray sefubeng
• Echocardiogram
• Ho ka etsoa liteko tsa liphatsa tsa lefutso bakeng sa phetoho ea mofuta o mong oa liphatsa tsa lefutso tsa EVC
• X-ray ea masapo
• Ultrasound
• Ho hlahloba urinal

Kalafo e ipapisitse le hore na ke 'mele oa mofuta ofe o amehileng le boima ba bothata. Boemo ka bo bona ha bo phekolehe, empa mathata a mangata a ka phekoloa.

Metse e mengata e na le lihlopha tsa ts'ehetso ea EVC. Botsa mofani oa tlhokomelo ea bophelo kapa sepetlele sa lehae hore na ho na le se teng sebakeng sa heno.

Bana ba bangata ba nang le boemo bona ba shoa ba sa le banyenyane. Hangata, sena se bakoa ke sefuba se senyenyane kapa sekoli sa pelo. Ho tsoala pelehi ho atile.

Sephetho se latela hore na ke karolo efe ea 'mele e amehang le hore na sistimi eo ea' mele e ameha hakae. Joalo ka maemo a mangata a liphatsa tsa lefutso a amang masapo kapa sebopeho sa 'mele, bohlale bo tloaelehile.

Mathata a ka kenyelletsa:

• Bothata ba masapo
• Bothata ba ho hema
• Lefu la pelo ea Congenital (CHD) haholo-holo lefu la septal defect (ASD)
• Lefu la liphio

Bitsa mofani oa hau haeba ngoana oa hau a e-na le matšoao a lefu lena. Haeba u na le nalane ea lelapa ea lefu la EVC mme ngoana oa hau a na le matšoao, etela mofani oa hau.

Tlhabollo ea lefutso e ka thusa malapa ho utloisisa boemo le mokhoa oa ho hlokomela motho eo.

Ho khothaletsoa tlhabollo ea lefutso bakeng sa bao e tla ba batsoali ba sehlopha se kotsing e kholo, kapa ba nang le nalane ea lelapa ea lefu la EVC.

Chondroectodermal dysplasia; EVC

• Polydactyly - letsoho la lesea
• Chromosomes le DNA

Chitty LS, Wilson LC, Ushakov F. Ho lemoha le ho tsamaisa lintho tse sa tloaelehang tsa masapo a lesea. Ka: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, li-eds. Meriana ea Fetal: Saense ea Motheo le Tloaelo ea Kliniki. 3rd ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 34.

Hecht JT, Horton WA. Mathata a mang a futsitsoeng a nts'etsopele ea masapo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 720.