Sengoli: Marcus Baldwin
Letsatsi La Creation: 18 Phuptjane 2021
Ntlafatsa Letsatsi: 8 November 2024
Anonim
Lefu la Waardenburg - Moriana
Lefu la Waardenburg - Moriana

Waardenburg syndrome ke sehlopha sa maemo a fetisitsoeng ke malapa. Boloetse bona bo kenyeletsa ho se utloe le letlalo le sootho, moriri le 'mala.

Lefu la Waardenburg hangata le futsitsoe e le tšobotsi e ka sehloohong ea li-autosomal. Sena se bolela hore ke motsoali a le mong feela ea lokelang ho fetisa lefutso le fosahetseng hore ngoana a amehe.

Ho na le mefuta e mene e meholo ea lefu la Waardenburg. Tse tloaelehileng haholo ke mofuta oa I le mofuta oa II.

Mofuta oa III (lefu la Klein-Waardenburg) le mofuta oa IV (Waardenburg-Shah syndrome) li fumaneha ka seoelo.

Mefuta e mengata ea lefu lena e bakoa ke liphoso tsa liphatsa tsa lefutso tse fapaneng. Batho ba bangata ba nang le lefu lena ba na le motsoali ea nang le lefu lena, empa matšoao a motsoali a ka fapana haholo le a ngoana.

Matšoao a ka kenyelletsa:

  • Molomo o hlakileng (o sa tloaelehang)
  • Ho sokela
  • Bokooa (bo tloaelehileng haholo lefung la mofuta oa II)
  • Mahlo a maputsoa a maputsoa haholo kapa mebala ea mahlo e sa lumellaneng (heterochromia)
  • Letlalo la 'mala o sootho, moriri le mahlo (albinism e sa fellang)
  • Ho ba thata ho otlolla manonyeletso ka botlalo
  • Ho ka etsahala ho fokotseha ho fokolang hoa ts'ebetso ea kelello
  • Mahlo a behiloeng ka bophara (ka mofuta oa I)
  • Moriri o mosoeu kapa ho soeufala ha moriri kapele

Mefuta e sa tloaelehang ea lefu lena e ka baka mathata ka matsoho kapa mala.


Liteko li ka kenyelletsa:

  • Sebopeho sa audio
  • Nako ea ho tsamaisa boea
  • Colops biopsy
  • Ho etsa liteko tsa lefutso

Ha ho na kalafo e khethehileng. Matšoao a tla phekoloa ha ho hlokahala. Lijo tse khethehileng le meriana ho boloka mala a tsamaea li laeloa ho batho ba nang le tšoaetso. Ho utloa ho lokela ho hlahlojoa haufi-ufi.

Hang ha mathata a kutlo a se a lokisitsoe, batho ba bangata ba nang le lefu lena ba lokela ho phela bophelo bo tloaelehileng. Ba nang le mefuta e mengata ea lefu lena ba ka ba le mathata a mang.

Mathata a ka kenyelletsa:

  • Ho sokela ho matla hoo ho ka hlokang hore karolo e 'ngoe ea mala a maholo e tlosoe
  • Ho lahleheloa ke kutlo
  • Mathata a ho itšepa, kapa mathata a mang a amanang le chebahalo
  • Ho fokotseha ha ts'ebetso ea kelello (ho khoneha, ho sa tloaelehang)

Keletso ea lefutso e ka ba molemo haeba u na le nalane ea lelapa ea lefu la Waardenburg mme u rera ho ba le bana. Bitsa mofani oa tlhokomelo ea bophelo bakeng sa teko ea kutlo haeba uena kapa ngoana oa hau a sa utloe litsebeng kapa a sa utloe hantle litsebeng.


Lefu la Klein-Waardenburg; Lefu la Waardenburg-Shah

  • Borokho bo pharaletseng ba nko
  • Kutloelo ya kutlo

Cipriano SD, Zone JJ. Lefu la methapo ea kutlo. Ka: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Matšoao a Dermatological a Mafu a Sisteme. La 5th. Philadelphia, PA: Elsevier; 2017: khaolo ea 40.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Liphoso tsa metabolism ea amino acid. 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 103.

Milunsky JM. Mofuta oa pele oa lefu la Waardenburg. Litlhahlobo. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. E ntlafalitsoe ka la 4 Mots'eanong, 2017. E fihlile ka la 31 Phupu, 2019.


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