Ake sifunde ngamathumba amancane akheka emathunjini? - I-Juvenile Polyposis Syndrome (JPS)

Noma ubani angasaba kakhulu uma ebona igazi esitulweni sakhe, ikakhulukazi enganeni encane. Noma ukhathazekile ngezinto ezifana nobuhlungu besisu obuqhubekayo, ukuqunjelwa, nokuzizwa ukhathele? Lokhu kungaba ngezinye izikhathi izimpawu zesimo sofuzo esizokhuluma ngaso esibizwa ngokuthi i-Juvenile Polyposis Syndrome (JPS). Ungesabi yize igama lizwakala liyinkimbinkimbi kancane. Nakuba lesi kungeyona inkinga evamile kakhulu, kubalulekile ukuqaphela. Ake sixoxe ngayo ngendlela elula ongayiqonda.

Kalula nje, iyini i-Juvenile Polyposis Syndrome (JPS)?

Kalula nje, i-JPS yisimo sofuzo esibangela ukwakheka kwama- polyp amancane ezindongeni zesimiso sethu sokugaya ukudla (indlela yokugaya ukudla (GI) . Lawa afana nembewu encane elenga esiqwini esincane.

Lawa ma-polyp angakhula noma kuphi ohlelweni lokugaya ukudla, kodwa avame ukutholakala ku:

• Ikholoni
• I-Rectum

Ngaphezu kwalokho, ngezinye izikhathi zingakhula esiswini nasemathunjini amancane. Umuntu one-JPS angase abe nama-polyp amaningana, ngezinye izikhathi angaphezu kwekhulu.

Uma sithi "izingane," ingabe lokhu kusho ukuthi lesi yisifo esithinta izingane ezincane kuphela?

Lona umbuzo abantu abaningi abawucabangayo. Uma sizwa igama elithi "intsha," sicabanga ngabantwana abancane kanye nabantu abadala abasebasha. Kodwa-ke, leli gama alisetshenziswa lapha ukubhekisela eminyakeni yesiguli. Igama linikezwa ngokusekelwe endleleni la ma-polyp abukeka ngayo ngaphansi kwe-microscope (uhlobo lwamaseli awo).

Kodwa-ke, into ebaluleke kakhulu ukuthi izimpawu ze-JPS zivame ukuqala ukuvela ngaphambi kweminyaka engama-20 , okungukuthi, ngesikhathi sobuntwana noma sobusha. Ngakho-ke, umuntu angacabanga ukuthi leli gama liyafaneleka ngandlela thile.

Ingabe zikhona izinhlobo eziyinhloko ze-JPS?

Yebo, i-JPS ingahlukaniswa ngezinhlobo ezintathu eziyinhloko. Uhlobo ngalunye luhlukile kancane kolunye. Ake sibone ukuthi ziyini.

Ingabe lesi sifo sizuzwe njengefa?

Yebo, i-JPS iyisifo esizuzwa njengefa. Sidluliselwa ngendlela elawulwa yi-autosomal . Manje ungase uzibuze ukuthi kusho ukuthini lokhu kulawulwa yi-autosomal.

Cishe ama-75% eziguli ze-JPS ziyithola njengefa kubazali bazo ngale ndlela. Kodwa cishe kuma -25% ezimo, ibangelwa ukuguquka kwezakhi zofuzo okusha okungekho muntu emndenini owake waba nakho ngaphambili. Lokhu kusho ukuthi othile angakuthuthukisa ngisho noma kungekho muntu emndenini onakho.

Ziyini izimpawu ze-JPS?

Isici esiyinhloko se-JPS ama-polyp esikhulume ngawo ngaphambilini. Lawa akhula ngaphakathi emzimbeni, ngakho asikwazi ukuwabona ngaphandle. Kodwa-ke, akuvamile kakhulu, amanye ama-polyp angabonakala ngaphandle kwe-rectum.

Esikhathini esiningi, izimpawu ziyavela lapho ama-polyp ekhula ngobukhulu noma ngenani. Yila ma-polyp okufanele sikhathazeke ngawo.

Ezinye izici abanye abantwana abangaba nazo lapho bezalwa

Cishe iziguli ze-JPS ezingama-15% zingase zibe nezinye izinkinga zomzimba ezikhona lapho zizalwa ngaphezu kwama-polyp. Lokhu kufaka phakathi:

• Ulwanga oluqhekekile
• Ukuba neminwe eyengeziwe ezandleni nasezinyaweni (nge-Polydactyly)
• Ukukhubazeka kokukhula kobuchopho, inhliziyo, izitho zangasese, noma uhlelo lomchamo
• Ukusonta kwamathumbu (i-Malrotation)
• Izinguquko emithanjeni yegazi esikhumbeni (i-Telangiectasia)

Ingabe kukhona ukuxhumana phakathi kwe-JPS nengozi yomdlavuza?

Lokhu kubaluleke kakhulu futhi kuyinto okudingeka siyinake. Ama-polyp abangelwa yi-JPS ekuqaleni akhula njengamathumba angewona umdlavuza (angewona umdlavuza) . Lokho kusho ukuthi awawona umdlavuza.

Kodwa-ke, abantu abane-JPS basengozini enkulu yokuthola umdlavuza wesistimu yokugaya ukudla kunabanye. Lesi yisici esiyingozi kakhulu salesi sifo. Ingozi ingaba phezulu ku-30% - 50%.

Umdlavuza onengozi ephezulu:

• Umdlavuza we-Colorectal
• Umdlavuza wesisu
• Umdlavuza we-pancreatic
• Umdlavuza wamathumbu amancane

Kungani i-JPS yenzeka? Iyini isizathu sesayensi?

I-JPS ibangelwa ukuguquka kwesinye sezakhi zofuzo ezimbili emzimbeni wethu, i-BMPR1A kanye ne-SMAD4 .

Cabanga ngalezi zakhi zofuzo ezimbili “njengabaphathi” ababili abalawula umsebenzi wamaseli ethu. Umsebenzi wabo oyinhloko ukutshela amaseli ukuthi, “Kulungile, hlukana manje” nokuthi “Kulungile, yeka ukwahlukana manje.” Lena yindlela alawula ngayo ukukhula kwamaseli.

Okwenzekayo ku-JPS ukuthi uma lezi zakhi zofuzo ziguquguquka, lowo "mphathi" akasebenzi kahle. Khona-ke amaseli ayaphuma ekulawuleni. Ahlukana ngokushesha kakhulu, anqwabelane phezu komunye nomunye, bese enza lawo ma-polyp esiwashilo.

I-JPS itholakala kanjani?

Uma unezimpawu ze-JPS, udokotela wakho uzoqala akuhlole bese ebuza ngezimpawu zakho nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo. Ukuze utholakale une-JPS, kumele okungenani ube nenye yalezi ezilandelayo:

Yiziphi izivivinyo ezenziwayo ngalokhu?

Udokotela uzoncoma ukuhlolwa okuningana ukuqinisekisa ukuxilongwa:

• I-Colonoscopy noma i-Endoscopy: Lokhu kuhilela ukufaka ithubhu elincane neliguquguqukayo elinekhamera kanye nokukhanya okudlula endunu ukuhlola ingaphakathi lamathumbu amakhulu. Lokhu kungasiza ekunqumeni ukuthi kukhona ama-polyp, ukuthi akuphi, nokuthi angaki. Ukuze kuhlolwe isisu, ithubhu lifakwa ngomlomo (Upper GI Endoscopy).

• Ukuhlolwa kwegazi ngofuzo: Kuthathwa isampula yegazi bese kuhlolwa izinguquko zofuzo ezibangela i-JPS.

Yiziphi izindlela zokwelapha i-JPS?

Imigomo eyinhloko yokwelashwa kwe-JPS ukususa ama-polyp, ukulawula izimpawu, nokunciphisa ingozi yomdlavuza. Udokotela wakho uzonquma ukwelashwa okungcono kakhulu kuwe ngokusekelwe eminyakeni yakho, impilo, inani lama-polyp, kanye nendawo akuyo.

Kunezindlela eziningana zokwelapha:

• Ukususa ama-polyp ngesikhathi se-colonoscopy: Uma kukhona ama-polyp ambalwa kuphela, anganqunywa futhi asuswe kusetshenziswa amathuluzi akhethekile adluliswa ngepayipi.
• Ukususwa kwama-polyp ngokuhlinzwa: Uma ama-polyp amakhulu kakhulu noma esendaweni engenakukwazi ukususwa ngesikhathi se-colonoscopy, kungase kudingeke ukuhlinzwa.
• Ukususwa kwengxenye yekholoni noma yesisu ngokuhlinzwa: Uma kunenqwaba yama-polyp endaweni eyodwa, odokotela bangase banqume ukususa yonke leyo ngxenye yekholoni.

Uyiphatha kanjani impilo yakho ngemva kokuthola ukuthi unesifo?

Akukho ukwelashwa kwe-JPS. Ngakho-ke, uma sekutholakale ukuthi unesifo, into ebaluleke kakhulu ukufunda ukuphila naso nokuphatha lesi sifo. Indlela engcono kakhulu yokwenza lokhu ukuhlolwa njalo kwezokwelapha.

Kufanele ngihlolwe kangaki?

• Ukuhlolwa kokuqala kufanele kwenziwe lapho izimpawu ziqala ukubonakala noma ngaphambi kokuba umuntu abe neminyaka engu-15 .
• Uma kungekho zinkinga ngesikhathi sokuhlolwa kokuqala (akukho ma-polyp), kwanele ukuhlolwa njalo eminyakeni emi-3 .
• Uma uke waba nama-polyp amaningi futhi wasuswa noma wahlinzwa, kufanele uhlolwe njalo ngonyaka . Uma kungekho ma-polyp atholakala futhi, ungashintsha uye ekuhlolweni njalo eminyakeni emi-3, njengoba kuceliwe udokotela wakho.

Ngemva kokwelashwa, udinga ukunikeza umzimba wakho isikhathi sokululama. Ngokuvamile kuthatha cishe amasonto amabili ukuthi izimpawu ziphele bese uqala ukuzizwa ungcono.

Noma nini lapho udinga ukubona udokotela.

Uma unezimpawu ze-JPS, ikakhulukazi igazi esitulweni sakho , ungakushayi indiva. Bonana nodokotela ngokushesha okukhulu. Futhi, uma kukhona emndenini wakho onomlando we-polyps noma i-JPS, qiniseka ukuthi utshela udokotela wakho. Ngenxa yokuthi lesi yisifo esidluliselwa ngofuzo, lolo lwazi lubaluleke kakhulu ekuxilongweni kwesifo.