Isifo sePeutz-Jeghers

Isifo i-Peutz-Jeghers (PJS) sisifo esinqabileyo apho ukukhula kukhula kubizwa ngokuba ziipolyps emathunjini. Umntu one-PJS usengozini enkulu yokuhlaselwa ngumhlaza othile.

Ayaziwa ukuba bangaphi abantu abachaphazelekayo yi-PJS. Nangona kunjalo, iZiko leSizwe lezeMpilo liqikelela ukuba lichaphazela malunga no-1 kuma-25,000 ukuya kuma-300,000 abazalwayo.

I-PJS ibangelwa kukutshintsha kohlobo ekuthiwa yi-STK11 (eyayisaziwa njenge-LKB1). Zimbini iindlela zokuba i-PJS ifumane ilifa:

• I-PJS eyaziwayo ifunyanwa njengelifa kwiintsapho njengeyona nto iphambili kwi-autosomal. Oko kuthetha ukuba omnye wabazali bakho unolu hlobo lwe-PJS, unethuba lama-50% lokuzuza njengelifa ufuzo nokuba unesifo.
• I-PJS yokuzenzekelayo ayizuz 'ilifa kumzali. Ukutshintsha kwemfuza kuyenzeka ngokwako. Nje ukuba umntu aphathe utshintsho lwemfuza, abantwana babo banethuba lokufumana ilifa njenge-50%.

Iimpawu zePJS zezi:

• Amabala amdaka okanye aluhlaza-grey emilebeni, kwiintsini, kwimigca yangaphakathi yomlomo nolusu
• Iminwe ecoliweyo okanye iinzwane
• Ukucinezela iintlungu kwindawo esiswini
• Amabala amnyama ajikeleze imilebe yomntwana
• Igazi esitulweni elinokubonwa ngamehlo (ngamanye amaxesha)
• Ukuhlanza

Iipolyps zikhula ikakhulu emathunjini amancinci, kodwa nakwithumbu elikhulu (ikholoni). Uvavanyo lwekholoni olubizwa ngokuba yi-colonoscopy luya kubonisa i-colon polyps. Amathumbu amancinci avavanywa ngeendlela ezimbini. Enye yi-barium x-ray (uthotho oluncinci lwamathumbu). Enye yipapsule endoscopy, apho kuginywa ikhamera encinci emva koko ithathe imifanekiso emininzi njengoko ihamba emathunjini amancinci.

Uviwo olongezelelweyo lunokubonisa:

• Inxalenye yamathumbu isongelwe kuyo (intussusception)
• Izibilini ze-Benign (ezingenomdla) empumlweni, kwi-airways, kwi-ureters, okanye kwi-bladder

Iimvavanyo zaselebhu zinokubandakanya:

• Ukubala okupheleleyo kwegazi (CBC) -kungabonisa i-anemia
• Uvavanyo lwemfuzo
• I-stool guaiac, ukujonga igazi kwisitulo
• Umthamo opheleleyo wokubopha i-iron (TIBC) -unokunxulunyaniswa ne-anemia yentswelo

Utyando lunokufuneka ukuze kususwe iipolyps ezibangela iingxaki zexesha elide. Izincedisi zentsimbi zinceda ukulwa nokulahleka kwegazi.

Abantu abanale meko kufuneka bajongwe ngumboneleli wezempilo kwaye bajongwe rhoqo kutshintsho lwe-polyp yomhlaza.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-PJS:

• Umbutho weSizwe weRare Disorder (NORD) - rarediseases.org/rare-diseases/peutz-jeghers-syndrome
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome

Kunokubakho umngcipheko omkhulu wokuba ezi polyp zibe ngumhlaza. Olunye uphononongo ludibanisa i-PJS kunye nomhlaza wamazinyo esiswini, imiphunga, ibele, isibeleko kunye namaqanda.

Iingxaki zinokubandakanya:

• Ukungena ngaphakathi
• Iipolyps ezikhokelela kumhlaza
• Ii-cysts ze-Ovarian
• Uhlobo lwee-ovari tumors ezibizwa ngokuba ziintambo zesini

Biza ukuqeshwa kunye nomboneleli wakho ukuba wena okanye umntwana wakho uneempawu zale meko. Intlungu ebuhlungu esiswini inokuba ngumqondiso wexesha likaxakeka njenge-intussusception.

Ukucebisa ngemfuza kuyacetyiswa ukuba ucwangcisa ukuba nabantwana kwaye unembali yosapho yale meko.

I-PJS

• Inkqubo yokugaya ukutya

UMcGarrity TJ, uAmos CI, uBaker MJ. Isifo sePeutz-Jeghers. Ku: UAdam MP, uArdinger HH, uPagon RA, et al, ii-eds.Uphononongo lweGene. Seattle, WA: IYunivesithi yaseWashington. www.ncbi.nlm.nih.gov/books/NBK1266. Ukuhlaziywa ngoJulayi 14, 2016. Ifikeleleke ngoNovemba 5, 2019.

UWendel D, uMurray KF. Amathumba wendlela yokugaya ukutya. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 372.