Peutz-Jeghers chirwere

Peutz-Jeghers syndrome (PJS) chirwere chisingawanzoitika mune zvinokura zvinonzi ma polyps mumatumbo. Munhu ane PJS ane njodzi huru yekubatwa nemamwe magomarara.

Hazvizivikanwe kuti vangani vanhu vanobatwa nePJS. Nekudaro, iyo National Institutes of Health inofungidzira kuti inokanganisa anenge mumwe muvane 25,000 kusvika mazana matatu ekuberekwa.

PJS inokonzerwa nekuchinja kwemajini anonzi STK11 (yaimbozivikanwa seLKB1). Pane nzira mbiri dzinogona kugarwa nhaka PJS:

• Yemhuri PJS inogarwa nhaka kuburikidza nemhuri seyakazvimirira hunhu hunhu. Izvi zvinoreva kuti kana mumwe wevabereki vako aine rudzi urwu rwePJS, une 50% mukana wekugara nhaka geni uye uine chirwere.
• Ponts PJS haina kugarwa nhaka kubva kumubereki. Iyo geni mutation inoitika yega. Kana mumwe munhu akatakura shanduko yemajini, vana vavo vane mukana we50% wekugara nhaka.

Zviratidzo zvePJS ndezvi:

• Brownish kana bhuruu-grey mavara pamiromo, matadza, mukati memukati memuromo, uye ganda
• Yakagerwa zvigunwe kana zvigunwe
• Kupwanya marwadzo munzvimbo yedumbu
• Kusviba kusviba pamusoro uye kutenderedza miromo yemwana
• Ropa mune zvigaro iro rinoonekwa neziso rakashama (dzimwe nguva)
• Kusvipa

Iyo polyps inokura kunyanya mumatumbu madiki, asi zvakare mune huru ura (colon). Bvunzo yekoloni inonzi colonoscopy inoratidza colon polyps. Iyo dumbu ura inoongororwa munzira mbiri. Imwe ndeye barium x-ray (diki ura dzakateedzana). Imwe ndeye capsule endoscopy, mukati mayo kamera diki inomedzwa uye inotora mifananidzo yakawanda painofamba nemuura ura.

Kuwedzera bvunzo kunogona kuratidza:

• Chikamu chemuura chakapetwa choga (intussusception)
• Benign (noncancerous) mamota mumhino, mweya, ureters, kana bladder

Rabhoritari bvunzo dzinogona kusanganisira:

• Yakazara kuverenga ropa (CBC) - inogona kuratidza kushomeka kweropa
• Kuongorora genetic
• Stool guaiac, kutsvaga ropa muzvigaro
• Yese iron-inosunga kugona (TIBC) - inogona kuve yakabatana ne-iron-kushomeka kweanemia

Kuvhiya kunogona kudikanwa kubvisa polyps iyo inokonzeresa-kwenguva refu matambudziko. Iron inowedzera inobatsira kurwisa kurasikirwa kweropa.

Vanhu vane chirwere ichi vanofanirwa kuongororwa nemutarisiri wezvehutano uye kuongororwa nguva nenguva kuitira cancer cancer polyp shanduko.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve PJS:

• National Sangano reRare Dambudziko (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Panogona kuve nenjodzi huru yekuti idzi polyps dzive cancer. Zvimwe zvidzidzo zvinobatanidza PJS nemakenza egwara remudumbu, mapapu, zamu, chibereko, uye mazai.

Zvinetso zvinogona kusanganisira:

• Kupokana
• Polyps dzinotungamira kukenza
• Ovarian cysts
• Mhando yemamota eovarian anonzi bonde tambo mamota

Dana kuti usangane nemupi wako kana iwe kana mwana wako aine zviratidzo zveichi chiitiko. Kutambudzika kwakanyanya kwepamuviri kunogona kunge kuri chiratidzo cheimwe mamiriro ekukurumidzira senge kufungidzira.

Genetic counselling inokurudzirwa kana uri kuronga kuva nevana uye uine nhoroondo yemhuri yeichi chiitiko.

PJS

• Digestive system nhengo

McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers chirwere. Mune: Adam MP, Ardinger HH, Pagon RA, et al, eds.GeneReviews. Seattle, WA: Yunivhesiti yeWashington. www.bhan.nlm.nih.gov/books/NBK1266. Yakagadziridzwa Chikunguru 14, 2016. Yakasvika munaNovember 5, 2019.

Wendel D, Murray KF. Tumota dzenzira yekugaya. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 372.