Lefu la Peutz-Jeghers

Peutz-Jeghers syndrome (PJS) ke lefu le sa tloaelehang leo ho lona ho nang le limela tse bitsoang li-polyps ka maleng. Motho ea nang le PJS o kotsing e kholo ea ho tšoaroa ke mofetše o itseng.

Ha ho tsejoe hore na ke batho ba bakae ba anngoeng ke PJS. Leha ho le joalo, Mekhatlo ea Naha ea Bophelo e hakanya hore e ama motho a le mong ho ba 25 000 ho isa ho 300,000 ba hlahileng.

PJS e bakoa ke phetoho ea liphatsa tsa lefutso e bitsoang STK11 (eo pele e neng e tsejoa e le LKB1). Ho na le mekhoa e 'meli eo PJS e ka futsitsoeng ka eona:

• PJS e tloaelehileng e futsitsoe ka malapa e le tšobotsi e ka sehloohong ea li-autosomal. Seo se bolela hore haeba e mong oa batsoali ba hau a na le mofuta ona oa PJS, o na le monyetla oa 50% oa ho rua lefutso le ho ba le lefu lena.
• Ho itlela feela PJS ha e futsitsoe ho motsoali. Phetoho ea lefutso e etsahala ka bo eona. Hang ha motho a jere phetoho ea liphatsa tsa lefutso, bana ba bona ba na le monyetla oa 50% oa ho e rua.

Matšoao a PJS ke:

• Matheba a bosootho kapa boputswa bo boputswa molomong, mareneneng, lera la kahare la molomo le letlalo
• Menoana kapa menoana e koetsoeng
• Ho opeloa ke bohloko ka mpeng
• Mafito a lefifi melomong ea ngoana le ho e potoloha
• Mali ka setuloaneng a ka bonoang ka mahlo (ka linako tse ling)
• Ho hlatsa

Li-polyps li hlaha haholo-holo mala a manyane, empa le mala a maholo (colon). Tlhahlobo ea kolone e bitsoang colonoscopy e tla bontša li-polyps tsa colon. Mala a manyenyane a hlahlojoa ka litsela tse peli. E 'ngoe ke x-ray ea barium (letoto le lenyenyane la mala). E 'ngoe ke capsule endoscopy, eo ho eona kh'amera e nyane e koenngoang ebe e nka litšoantšo tse ngata ha e ntse e tsamaea ka maleng a manyane.

Litlhahlobo tse ling li ka bonts'a:

• Karolo ea mala e menehile ka boeona (intussusception)
• Likokoana-hloko tsa Benign (noncancerous) ka nko, lifofane, li-ureters kapa senya

Liteko tsa laboratori li ka kenyelletsa:

• Palo e felletseng ea mali (CBC) - e ka senola phokolo ea mali
• Ho etsa liteko tsa lefutso
• Stool guaiac, ho batla mali ka setuloana
• Kakaretso ea matla a tlamang tšepe (TIBC) - e kanna ea hokahanngoa le khaello ea mali ea khaello ea tšepe

Ho ka 'na ha hlokahala hore ho buuoe ho tlosa li-polyps tse bakang mathata a nako e telele. Lisebelisoa tsa tšepe li thusa ho loants'a tahlehelo ea mali.

Batho ba nang le boemo bona ba lokela ho beoa leihlo ke mofani oa tlhokomelo ea bophelo 'me a hlahlojoe khafetsa bakeng sa liphetoho tse nang le mofetše oa polyp.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka PJS:

• Mokhatlo oa Naha oa Mathata a Rare (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• Tlhatlhobo ea Lehae ea NIH / NLM Genetics - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Ho ka ba le kotsi e kholo ea hore li-polyps tsena li fetohe mofetše. Liphuputso tse ling li amahanya PJS le mofetše oa 'metso, matšoafo, sefuba, popelo le mae a bomme.

Mathata a ka kenyelletsa:

• Ho hloka kelello
• Li-polyps tse lebisang ho mofets'e
• Li-cysts tsa mahe a bomme
• Mofuta oa lihlahala tsa mae a bomme tse bitsoang lihlahala tsa thapo ea thobalano

Bitsa kopano le mofani oa hau haeba uena kapa ngoana oa hau le na le matšoao a boemo bona. Bohloko bo bohloko ba mpeng e kanna ea ba sesupo sa boemo ba tšohanyetso bo kang ho kenella maikutlong.

Keletso ea lefutso ea khothaletsoa haeba o rera ho ba le bana le ho ba le nalane ea lelapa ea boemo bona.

PJS

• Lisebelisoa tsa tsamaiso ea lijo

McGarrity TJ, Amosi CI, Baker MJ. Lefu la Peutz-Jeghers. Ka: Adam MP, Ardinger HH, Pagon RA, et al, eds.Litlhahlobo. Seattle, WA: Univesithi ea Washington. www.ncbi.nlm.nih.gov/books/NBK1266. E ntlafalitsoe ka Phupu 14, 2016. E fihlile ka la 5 Pulungoana, 2019.

Wendel D, Murray KF. Lihlahala tsa tšilo ea lijo. 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 372.