Dysautonomia e tloaelehileng

Familial dysautonomia (FD) ke lefu le futsitsoeng le amang methapo ea mmele.

FD e fetisoa ka malapa (a futsitsoeng). Motho o tlameha ho rua kopi ea lefutso le sa sebetseng ho motsoali e mong le e mong ho holisa boemo boo.

FD e etsahala hangata ho batho ba litloholo tsa Bajude ba Europe Bochabela (Bajude ba Ashkenazi). E bakoa ke phetoho (phetoho) ho lefutso. Ke ka seoelo sechabeng ka kakaretso.

FD e ama methapo tsamaisong ea methapo e ikemetseng. Metsing ena e laola mesebetsi ea 'mele ea letsatsi le letsatsi e kang khatello ea mali, ho otla ha pelo, ho fufuleloa, ho ntša mala le senya, tšilo ea mali le kutlo.

Matšoao a FD a teng nakong ea tlhaho 'me a ka' na a mpefala ha nako e ntse e tsamaea. Matšoao a fapana, 'me a ka kenyelletsa:

• Ho koenya mathata a masea, ho baka pneumonia ea ho lakatsa kapa kholo e mpe
• Meea e tšoereng phefumoloho, e fellang ka ho akheha
• Ho bipetsoa kapa letshollo
• Ho se khone ho utloa bohloko le ho fetoha ha mocheso (ho ka baka likotsi)
• Mahlo a omileng le ho hloka meokho ha u lla
• Tšebelisano e mpe le ho tsamaea ho sa tsitsang
• Ho oa
• Bolelele bo sa tloaelehang ba leleme le bosootho le ho haella ha likhahla tsa tatso le ho fokotseha ka kutlo ea tatso

Kamora lilemo tse 3, bana ba bangata ba ba le mathata a boipuso. Tsena ke likarolo tsa ho hlatsa tse nang le khatello e phahameng ea mali, ho otla pelo, feberu le ho fufuleloa.

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele ho batla:

• Ho se tsebe kapa ho fokotseha ha maikutlo a tebileng a tendon
• Ho hloka karabelo kamora ho fumana ente ea histamine (hangata bofubelu le ho ruruha ho ka etsahala)
• Ho hloka meokho ka ho lla
• Molumo o tlase oa mesifa, hangata maseeng
• Mokokotlo o matla oa mokokotlo (scoliosis)
• Bana ba banyenyane kamora ho amohela marotholi a itseng a mahlo

Liteko tsa mali lia fumaneha ho lekola phetoho ea lefutso e bakang FD.

FD e ke ke ea phekoloa. Kalafo e etselitsoe ho sebetsana le matšoao mme e ka kenyelletsa:

• Meriana e thusang ho thibela ho oela
• Ho iphepa boemong bo otlolohileng le ho fana ka moralo o hlophisitsoeng ho thibela reflux ea gastroesophageal (asiti ea ka mpeng le lijo tse khutlang hape, tse bitsoang GERD)
• Mehato ea ho thibela khatello e tlase ea mali ha o eme, joalo ka keketseho ea ho noa mokelikeli, letsoai le caffeine, le ho apara li-stockings
• Meriana e laolang ho hlatsa
• Meriana ea ho thibela mahlo a omileng
• Phekolo ea 'mele ea sefuba
• Mehato ea ho itšireletsa khahlanong le kotsi
• Ho fana ka phepo e lekaneng le maro
• Phekolo kapa mokokotlo oa mokokotlo ho sebetsana le mathata a mokokotlo
• Ho phekola nyumonia ea aspiration

Mekhatlo ena e ka fana ka tšehetso le tlhaiso-leseling e batsi:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org
• Tshupiso ea Lehae la NLM Genetics - ghr.nlm.nih.gov/condition/familial-dysautonomia

Tsoelo-pele ea tlhahlobo le kalafo e eketsa sekhahla sa pholoho. Hoo e ka bang halofo ea masea a hlahileng a na le FD a tla phela ho fihlela a le lilemo li 30.

Bitsa mofani oa hau haeba matšoao a fetoha kapa a mpefala. Moeletsi oa lefutso a ka u thusa ho u ruta ka boemo bona le ho u tataisetsa ho ts'ehetsa lihlopha tse sebakeng sa heno.

Tlhahlobo ea liphatsa tsa lefutso ea DNA e nepahetse haholo bakeng sa FD. E ka sebelisoa bakeng sa ho fumana batho ba nang le boemo bona kapa ba nang le lefutso. E ka sebelisoa hape bakeng sa tlhahlobo ea bakhachane.

Batho ba semelo sa Bajude ba Europe Bochabela le malapa a nang le nalane ea FD ba kanna ba lakatsa ho batla tlhabollo ea lefutso haeba ba nahana ho ba le bana.

Lefu la Riley-Day; FD; Lefu la kutlo la kutlo le la autonomic - mofuta oa III (HSAN III); Likoluoa ​​tsa Autonomic - dysautonomia ea lelapa

• Chromosomes le DNA

Katirji B. Mathata a methapo ea kutlo. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, bahlophisi. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 107.

Sarnat HB. Li-neuropathies tse ikemetseng. Ka: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, bahlophisi. Buka ea Nelson ea Pediatrics. 20th, ed. Philadelphia, PA: Elsevier; 2016: khaolo ea 615.

Wapner RJ, Dugoff L. Tlhahlobo ea bakhachane ea mathata a tlhaho. Ka: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, li-eds. Creasy le Resnik's Maternal-Fetal Medicine: Melao-motheo le Tloaelo. La 8th. Philadelphia, PA: Elsevier; 2019: khaolo ea 32.