Waliwo omuntu yenna mu maka go alina obubonero buno? Ka twogere ku bulwadde bwa Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Leero tugenda kwogera ku mbeera etali ya bulijjo naye nga nkulu nnyo. Kiyitibwa Banyan-Riley-Ruvalcaba Syndrome, oba ``BRRS'' mu bufunze. Embeera y’obuzaale. Kwe kugamba, kiva ku nkyukakyuka entono mu buzaale mu mubiri gwaffe. Embeera eno eyongera obulabe bw'okufuna ebizimba ebitali bya bulijjo (``ebizimba'') mu bitundu by'omubiri eby'enjawulo. Tofaayo, kino ka tukitegeere mu ngeri ennyangu.

Obulwadde bwa Banyan-Riley-Ruvalcaba (BRRS) kye ki?

Mu ngeri ennyangu, `(BRRS)` mbeera ya buzaale . Kibeera mu kibinja ky’endwadde eziyitibwa `(PTEN hamartoma tumor syndrome (PHTS))`. Oyinza n'okuwulira ku `(Cowden syndrome)`, nga nayo egwa mu kiti kino ekya `(PHTS)`.

Embeera eno eya `(BRRS)` etera okuva ku nkyukakyuka, oba enkyukakyuka , mu ggiini eyitibwa `(PTEN)` mu mubiri gwaffe. Ensengekera eno eya `(PTEN)` efuga okukula kw’obutoffaali bwaffe naddala okukola obutoffaali obufuga okukula kw’ebizimba. Kale, olw’okuba ensengekera eno eya `(PTEN)` mu muntu alina `(BRRS)` tekola bulungi, obutoffaali bwabwe busobola okukula mu ngeri etafugibwa. Kino kyongera obulabe bw’okufuna hamartomas , awamu n’ebizimba ebirala ebya kookolo n’ebitali bya kookolo. Okugatta ku ekyo, n’obulabe bw’okufuna ebika bya kookolo ebiwerako bweyongera.

Okugatta ku ekyo, wayinza okubaawo okweyongera kw’obuzito bw’okuzaalibwa, obunene bw’omutwe obunene okusinga ku bwa bulijjo (macrocephaly), ebitundu by’ekyama eby’abasajja, n’okulwawo okw’enjawulo mu nkula n’amagezi.

Amannya ki amalala agakozesebwa ku `(BRRS)`?

Embeera eno eyitibwa amannya amalala agawerako. Oyinza okuba nga wali owuliddeko erimu ku mannya gano:

• Obulwadde bwa Riley-Smith
• Obulwadde bwa Ruvalcaba-Myhre
• Obulwadde bwa Ruvalcaba-Myhre-Smith
• Obulwadde bwa Bannayan-Zonana

Embeera eno eya `(BRRS)` ya bulijjo etya?

Kizibu okwogera ddala engeri embeera eno gy’etera okubeerawo, kubanga obubonero bwawukana nnyo okusinziira ku muntu. Obumu ku bubonero buno buba bwa magezi nnyo. Kyokka, abanoonyereza abasinga obungi balowooza nti eno mbeera ya bbula nnyo .

Bubonero ki obwa `(BRRS)`?

Obubonero bw’obulwadde bwa Bannayan-Riley-Ruvalcaba bwa njawulo nnyo. Abantu abamu bayinza okuba n’obubonero buno bungi, ate abalala bayinza okuba n’obubonero butono. Ka tulabe obubonero obukulu obuyinza okulabibwa:

• Okubeera n'obuzito bungi ng'ozaalibwa n'obuwanvu .
• Omutwe omunene okusinga ogwa bulijjo (macrocephaly).
• Okulaba amabala (pigmented macules) mu bitundu by’ekyama by’abalenzi.
• Obutabeera na ddoboozi lya binywa (hypotonia). Teebereza, bw’ositula omwana, ebitundu by’omubiri biwulira nga bisumuluddwa katono.
• Okukulaakulanya obukugu mu kwogera ne/oba okukola emirimu gy’omubiriOkulwawo kw’enkulaakulana.
• Kino kiyinza okukosa abantu nga 50% abaliko obulemu ku magezi (BRRS).
• Obuzibu bwa autism spectrum disorder (`(Autism spectrum disorder)`) - Kizuuliddwa nti abaana nga 20% abalina autism balina enkyukakyuka mu gene ya `(PTEN)`.
• Obunafu bw'ebinywa .
• Hamartomas si kookolo, okukula okutali kwa bulijjo okw’obutoffaali n’ebitundu mu byenda.
• Ennyondo ezikyukakyuka ennyo .
• Okukonziba okulinga okw’okusannyalala (`(okukonziba)`).
• Pectus excavatum - Eno mbeera nga wakati w’eggumba ly’ekifuba libbira munda.
• Obulwadde bwa Scoliosis .
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Okuddugala kw'olususu mu bikuta by'omubiri n'ebitundu nga enkokola, ensingo, n'ebirala.
• Ebizimba by’amasavu (lipomas) ebikula wansi w’olususu.
• Ebizimba ebitali bya kookolo ebikolebwa amasavu n’emisuwa (angiolipomas).
• Ebitundu ebiringa obubonero bw’okuzaalibwa (hemangiomas) ebikolebwa okuva mu kukungaanya emisuwa egy’omusaayi egy’enjawulo wansi w’olususu.

Jjukira nti si buli muntu nti alina engeri zino zonna. Abantu abamu bayinza okuba nga balina ntono ku zo.

Biki ebivaako `(BRRS)`?

Waliwo ensonga bbiri enkulu lwaki embeera eno eya ``(BRRS)`` ebaawo:

1. Enkyukakyuka mu ggiini yo eya `(PTEN)`. (Kino kye kisinga okuvaako.)

2. Okusazaamu okunene okw’ebintu eby’obuzaale omuli byonna oba ekitundu ky’obuzaale bwo obwa `(PTEN)`. (Kino kibaawo mu mbeera nga 10%.)

Nga bwe twayogeddeko emabegako, obuzaale bwo obwa PTEN bukola puloteyina efuga okukula kw’ebizimba. Singa obuzaale buno bubula oba obutakola bulungi, obutoffaali bwo butandika okwawukana mu ngeri etafugibwa. Kino kivaamu ebizimba ebiyitibwa hamartomas n’ebizimba ebirala ebya kookolo n’ebitali bya kookolo.

Wabula abakugu n’okutuusa kati tebamanyi bulungi ngeri nkyukakyuka mu buzaale bwa PTEN gye zireeta obubonero obulala obwa BRRS, gamba nga macrocephaly (omutwe omunene), obutabeera bulungi mu binywa n’amagumba, n’okulwawo okukula n’amagezi.

`(BRRS)` eyitawo okuva ku mulembe okudda ku mulala?

Yee, abazadde basobola okuyisa akakwakkulizo `(BRRS)` ku baana baabwe. Kino kiyitibwa `( obusika obufuga obw’omubiri (autosomal dominant inheritance )`. Mu ngeri ennyangu, singa omuzadde omu alina kkopi emu ey’obuzaale obukyusiddwa `(PTEN)`, omwana waabwe alina emikisa 50% okusikira embeera eno.

Oyinza otya okuzuula `(BRRS)`?

Singa omusawo ateebereza nti oyinza okuba nga olina BRRS, kirabika ajja kulagira okukeberebwa obuzaale bw’obuzaale bwa PTEN.Okukebera obuzaale kirungi. Kino kizingiramu enkola eyitibwa ensengeka y’obuzaale (gene sequencing). Kino kitegeeza nti buli kitundu ky’obuzaale kyekebejjebwa okulaba oba waliwo enkyukakyuka oba enkyukakyuka yonna.

Okugezesebwa kuno okwa `(PTEN)` kutuufu nnyo. Singa omusawo wo asanga enkyukakyuka mu buzaale bwa `(PTEN)`, basobola okukakasa n'obukakafu 100% nti olina `(BRRS)`. Wabula abantu 60% bokka abalina obubonero bwa `(BRRS)` be balina enkyukakyuka y’obuzaale ezuulibwa. Kino kitegeeza nti abantu nga 40% abalina obubonero bwa `(BRRS)` bayinza okuba n'ebyava mu kukeberebwa okwa bulijjo. Bwoba oyagala okwekebeza `(PTEN)`, yogerako n'omusawo wo.

`(BRRS)` ekwatibwa etya?

Tewali bujjanjabi bwa njawulo ku ``(BRRS)''. Mu kifo ky’ekyo, obujjanjabi bw’obulwadde bwa Bannayan-Riley-Ruvalcaba buzingiramu okuddukanya obubonero bwo obw’enjawulo n’obubonero bwo .

Abantu abalina BRRS balina okwekebejjebwa buli kiseera okulaba oba balina ebika bya kookolo eby’enjawulo, ka babe nga balina obubonero oba nedda. Abasawo bagamba nti abantu abazuuliddwa nga balina enkyukakyuka mu buzaale bwa PTEN balina okugoberera enkola y’okukebera obulwadde bwa Cowden syndrome. Kuno kw’ogatta okwekebejja kookolo ono:

• Kookolo w’amabeere
• Kookolo wa nnabaana
• Kookolo w’ekibumba
• Kookolo w’ekibumba

Okubuulirira ku buzaale kiyamba nnyo eri abantu abalina BRRS. Ab’omu maka abatalaga bubonero bwa BRRS nabo balina okukeberebwa ekirungo kya PTEN okuzuula oba nabo balina okugoberera ebiragiro ebikwata ku kukebera kookolo .

Enkola y'okwetegereza ku `(BRRS)`

Waliwo ebiragiro ebitongole ebikwata ku kulondoola buli kika kya kookolo, omuli ddi lw’olina okutandika okukeberebwa. Si kookolo yenna nti atandika okukeberebwa mu kiseera kye kimu n’okuzuulibwa - kisinziira ku myaka gy’omuntu ng’azuuliddwa.

Ku bantu abali wansi w’emyaka 18 , abasawo bayinza okukuwa amagezi:

• Okukebera thyroid ultrasound buli mwaka okuva ku myaka 7.
• Okukeberebwa omubiri buli mwaka wamu n'okukeberebwa olususu .
• Okwekenenya enkula y'obusimu .
• Okukebera hemoglobin buli mwaka kwetaagibwa okuzuula hamartomas z’ekyenda nga bukyali.

BRRS esobola okuziyizibwa?

Nedda, BRRS tesobola kuziyizibwa. Embeera y’obuzaale ereetebwa enkyukakyuka mu buzaale. Abantu abalina BRRS basobola okufuna okubudaabudibwa ku buzaale. Kino kiyinza okubayamba okusalawo mu ngeri entuufu ku by’obulamu n’okuzaala abaana.

Kiki kye nsuubira singa mba nnina `(BRRS)`?

Enteebereza y’omuntu alina BRRS ya njawulo nnyo okusinziira ku muntu. Abantu abamu bayinza okuba n’obubonero n’obubonero obutono - abalala bayinza okuba n’obubonero obutono oba obutaba na bubonero bwonna. Waliwo enkola nnyingi ez’okuddukanya abantu abalina BRRS eziyinza okuyamba okutumbula omutindo gw’obulamu bwabwe okutwalira awamu. Eby'okulabirako mulimu okujjanjaba omubiri n'okujjanjaba okwogera .

Nga bwe kyayogeddwako emabegako, abantu abalina ``(BRRS)`` balina okwekebejjebwa buli kiseera okulaba oba balina ebika bya kookolo eby'enjawulo. Buuza omusawo ddi lw’osaanidde okutandika okwekebejja n’emirundi gy’osaanidde okuzifuna.

Obulwadde bwa Bannayan-Riley-Ruvalcaba Syndrome n’obulamu bw’omuntu

Abanoonyereza tebannaba kuzuula bulamu bwa bantu abalina BRRS. Mu butuufu, tewali bujulizi bulaga nti abantu abalina BRRS bawangaala nnyo. Wabula abantu abalina BRRS bali mu bulabe obw’okufuna ebika bya kookolo ebimu ku myaka emito. Olw’ensonga eno, abantu abamu bayinza okubeera n’obulamu obutono olw’obulwadde bwa kookolo.

Ddi lwe nnina okulaba omusawo wange?

Singa ab’omu maka go ag’oku lusegere (okugeza, baganda bo, abazadde, oba abaana) baba ne `(BRRS)`, olina okubuuza omusawo wo ku `(PTEN)` okukebera obuzaale. Okukebera `(PTEN)` kuyinza okuzuula oba olina enkyukakyuka mu buzaale bwa `(PTEN)` era oba olina okwekebejjebwa buli kiseera okulaba kookolo ezimu.

Singa ggwe oba omwana wo ozuuliddwa nti olina obulwadde bwa BRRS, omusawo wo ajja kukolagana naawe okuddukanya obubonero bwo n’okutumbula omutindo gw’obulamu bwo. Era bajja kukubuulira emirundi gy’osaanidde okwekebejjebwa kookolo.

Bibuuzo ki bye nnina okubuuza omusawo wange?

Bw’oba ​​ggwe oba omwagalwa wo olina obulwadde bwa BRRS, bino bye bimu ku bibuuzo by’osobola okubuuza omusawo wo:

• Waliwo enkyukakyuka y’obuzaale eya `(PTEN)` ezuulibwa mu nze oba mu mwana wange?
• Waliwo obubonero n’obubonero obweyoleka?
• Nkole okukeberebwa obuzaale?
• Ab’omu maka gange ag’oku lusegere nabo balina okukeberebwa obuzaale?
• Kino kikwata kitya ku nteekateeka y’amaka?
• Bujjanjabi ki oba engeri z’okuddukanyaamu gy’ogamba?
• Mirundi emeka gye nnina okwekebeza kookolo?

Obubaka Obutwala Awaka

Obulwadde bwa Bannayan-Riley-Ruvalcaba syndrome (BRRS) mbeera ya buzaale etali ya bulijjo ereetebwa enkyukakyuka mu buzaale bwo obwa PTEN. Obubonero buyinza okwawukana ennyo, era buyinza okuva ku butono okutuuka ku buzibu. Tewali bujjanjabi bwa njawulo ku BRRS, naye obujjanjabi obukulu kwe kuddukanya obubonero. Kikulu abantu abalina BRRS okwekebejjebwa buli kiseera ku bika bya kookolo ebimu, omuli kookolo w’amabeere, nnabaana, thyroid, n’ensigo.

Okwogera n‟omubuulirizi oba omukozi w‟ensonga z‟abantu kiyinza okuyamba ennyo mu kukola ku nneewulira ezijja n‟okuzuulibwa nga kino. Osobola n‟okwegatta ku kibiina ekiyamba mu kitundu oba ku yintaneeti okusisinkana abalala abayise mu mbeera ezifaananako bwe zityo. Tofaayo, toli wekka. Bw’ofuna amagezi amatuufu n’obuwagizi bw’abasawo, osobola okuddukanya embeera eno n’obeera n’obulamu obulungi.

` Bannayan-Riley-Ruvalcaba Syndrome, BRRS, PTEN gene, hamartoma, obuzibu mu buzaale, akabi ka kookolo, macrocephaly, okulwawo okukula, obulwadde bw’obuzaale, akabi ka kookolo, okulwawo okukula