I-Peutz-Jeghers syndrome

I-Peutz-Jeghers syndrome (i-PJS) yisifo esingajwayelekile lapho kukhula khona okubizwa ngama-polyps emathunjini. Umuntu one-PJS unengozi enkulu yokuba nomdlavuza othile.

Akukaziwa ukuthi bangaki abantu abathinteka yi-PJS. Kodwa-ke, iNational Institutes of Health ilinganisela ukuthi kuthinta cishe umuntu oyedwa kwabangu-25,000 kuya kwabangu-300,000 abazalwayo.

I-PJS idalwa ukuguquka kwezakhi zofuzo ezibizwa nge-STK11 (ngaphambili eyayaziwa njenge-LKB1). Kunezindlela ezimbili i-PJS engazuzwa ngayo njengefa:

• I-PJS ejwayelekile izuzwe njengefa ngemindeni njengesici esivelele se-autosomal. Lokho kusho ukuthi uma omunye wabazali bakho enalolu hlobo lwe-PJS, unethuba elingama-50% lokuzuza njengefa isakhi nokuba nesifo.
• I-PJS ezenzakalelayo ayizuzwa njengefa kumzali. Ukuguqulwa kwezakhi zofuzo kwenzeka ngokwakho. Uma umuntu ephethe ushintsho lofuzo, izingane zakhe zinethuba elingama-50% lokuzuza njengefa.

Izimpawu ze-PJS yilezi:

• Amabala ansundu noma aluhlaza okwesibhakabhaka ezindebeni, ezinsinini, ulwelwesi lwangaphakathi lomlomo, nesikhumba
• Iminwe ehlutshiwe noma izinzwane
• Ubuhlungu obuminyene endaweni yesisu
• Amabala amnyama ngaphakathi nangasemlonyeni wezindebe zengane
• Igazi esitokisini elingabonakala ngeso lenyama (kwesinye isikhathi)
• Ukuhlanza

Ama-polyps akhula ikakhulukazi emathunjini amancane, kepha nasemathunjini amakhulu (colon). Ukuhlolwa kwekholoni okuthiwa i-colonoscopy kuzobonisa ama-colon polyps. Amathumbu amancane ahlolwe ngezindlela ezimbili. Enye yi-barium x-ray (uchungechunge lwamathumbu amancane). Enye i-capsule endoscopy, lapho kugwinywa ikhamera encane bese ithatha izithombe eziningi njengoba ihamba emathunjini amancane.

Ukuhlolwa okungeziwe kungakhombisa:

• Ingxenye yamathumbu isongwe yodwa (intussusception)
• Izicubu ze-Benign (ezingenalo umdlavuza) emakhaleni, ezindleleni zomoya, e-ureters noma esinyeni

Ukuhlolwa kwelabhoratri kungafaka:

• Ukubalwa kwegazi okuphelele (CBC) - kungaveza ukuntuleka kwegazi
• Ukuhlolwa kofuzo
• I-stool guaiac, ukubheka igazi esitokisini
• Umthamo ophelele wokubopha i-iron (TIBC) - ungaxhunyaniswa ne-anemia yokushoda kwe-iron

Ukuhlinzwa kungadingeka ukuze kususwe ama-polyps adala izinkinga zesikhathi eside. Izithasiselo ze-Iron zisiza ekulweni nokulahleka kwegazi.

Abantu abanalesi simo kufanele babhekwe ngumhlinzeki wezokunakekelwa kwempilo futhi bahlolwe njalo ukuthola ushintsho lwe-polyp yomdlavuza.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-PJS:

• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Kungaba nengozi enkulu yokuthi la ma-polyps abe nomdlavuza. Ezinye izifundo zixhumanisa i-PJS nomdlavuza womgudu wamathumbu, amaphaphu, isifuba, isibeletho nama-ovari.

Izinkinga zingafaka:

• Ukungena ngaphakathi
• Ama-polyps aholela kumdlavuza
• Ama-cysts ama-ovari
• Uhlobo lwezicubu ze-ovarian ezibizwa ngezicubu zezintambo zocansi

Shayela i-aphoyintimenti nomhlinzeki wakho uma wena noma ingane yakho unezimpawu zalesi simo. Ubuhlungu obukhulu besisu bungaba yisimo sesimo esiphuthumayo njenge-intussusception.

Ukwelulekwa ngofuzo kuyanconywa uma uhlela ukuba nezingane futhi ube nomlando womndeni walesi simo.

PJS

• Izitho zohlelo lokugaya ukudla

UMcGarrity TJ, u-Amos CI, uBaker MJ. I-Peutz-Jeghers syndrome. Ku: Adam MP, Ardinger HH, Pagon RA, et al, ama-eds.Ukubuyekezwa kweGeneReviews. Seattle, WA: Inyuvesi yaseWashington. www.ncbi.nlm.nih.gov/books/NBK1266. Kubuyekezwe ngoJulayi 14, 2016. Kufinyelelwe ngoNovemba 5, 2019.

UWendel D, uMurray KF. Izimila zomgudu wokugaya ukudla. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 372.