Ngaba unamabala amancinci aqinileyo emathanjeni akho? Masifunde ngale meko (i-Osteopoikilosis)?

Ngamanye amaxesha, xa sisiya kwi-X-ray ukuze sifumane enye into, njengengalo okanye umlenze owaphukileyo, ugqirha ngempazamo ubona amachaphaza amancinci amhlophe okanye amabala emathanjeni ethu. Oko kunokuba yinto eyoyikisayo, akunjalo? Usenokucinga, "Yintoni le?" Kodwa, la machaphaza amancinci esiwabona rhoqo awayingozi. Yile ndlela esiza kuthetha ngayo ngemeko ethile yamathambo namhlanje, engeyongozi kwiimeko ezininzi, kodwa kubaluleke kakhulu ukuba sonke siyiqaphele. Oku sikubiza ngokuba yi-'(Osteopoikilosis)'.

Yintoni i-Osteopoikilosis? Ngamafutshane...

Ngamafutshane, `(Osteopoikilosis)` yimeko engaqhelekanga kakhulu neyizuzwe njengelifa. Okwenzekayo koku kukuba umzimba wethu unezicubu zamathambo, kwaye kwezinye iindawo, ingakumbi kwiindawo ezijikeleze amalungu, ziba nkulu kunesiqhelo . Ezi zibonakala njengamabala amancinci, angqukuva, aqinileyo emathanjeni. La mabala aqala ukwakheka xa sisebancinci, oko kukuthi, ngexesha lobuntwana. Kodwa emva kokuba wonke amathambo ethu ekhulile kwaye evuthwe, la mabala ayayeka ukwakheka. Eyona nto ilungileyo kukuba le meko ayichaphazeli amandla amathambo ethu nangayiphi na indlela . Kwaye ayifuni naluphi na unyango olukhethekileyo.

Ixhaphake kangakanani le meko (i-Osteopoikilosis)? Ngubani oyifumanayo?

Esi sisifo esingaqhelekanga ngokwenene. Ngokwezibalo, malunga nomntu omnye kwabangama-50,000 unokuba naso (i-Osteopoikilosis). Sinokuchaphazela nabani na walo naliphi na ixesha, nokuba ungowasiphi na isini. Nangona kunjalo, kuthiwa amadoda anokuba naso kancinci. Nokuba uzelwe unaso esi sifo, oogqirha badla ngokusifumanisa ngengozi phakathi kweminyaka eli-15 nengama-60 ubudala.

Zibonakala phi emzimbeni ezi ndawo (i-Osteopoikilosis)?

I-Osteopoikilosis yimeko echaphazela amathambo ethu kunye nenkqubo yemisipha . La mabala adla ngokubonakala eziphelweni zamathambo amade emilenzeni nasezingalweni zethu, abizwa ngokuba ngamathambo. Ukongeza, le meko inokubonwa nasemathanjeni eenyawo zethu, ezandleni, nakwisinqe.

Kutheni oku (i-Osteopoikilosis) kwenzeka? Yintoni unobangela?

Iingcali zikholelwa ukuba isizathu esiphambili soku kukutshintsha kwezakhi zofuzo zethu. Ngokuchanekileyo, kukholelwa ukuba le "Osteopoikilosis" ibangelwa kukuguquka kwezakhi zofuzo ezibizwa ngokuba yi "LEMD3 gene". Le "LEMD3 gene" ivelisa iproteni enceda kwinkqubo yokwakheka kwamathambo. Ngoko ke, xa kukho isiphene kule gene, le protein ayiveliswa kangangoko kuyimfuneko, ngoko ke izicubu zamathambo ziba nkulu kakhulu kwezinye iindawo.

Ukuba sithetha ngendlela oku kuzuzwa ngayo, ukuba umama okanye utata wakho unale jini itshintshileyo, unethuba elingama-50% lokufumana loo jini kwaye ube ne-Osteopoikilosis.Kwizonyango, esi sifo sibizwa ngokuba yi-"autosomal dominant disease". Kwakhona, ukuba unale meko, unethuba elilinganayo lokudlulisela esi jini sitshintshileyo kubantwana bakho.

Nangona kunjalo, abanye abantu banokuba ne-Osteopoikilosis ngaphandle kwembali yosapho, oko kuthetha ukuba akukho mntu kusapho lwabo okhe waba nesi sifo, kodwa ngenxa yokuguquka kwezakhi zofuzo okuzenzekelayo .

Ngubani osengozini enkulu yokufumana i-Osteopoikilosis?

Le meko, ethi ``Osteopoikilosis,'' ixhaphake kakhulu kubantu abanesinye isifo esizuzwe njengelifa esibizwa ngokuba yi ``Buschke-Ollendorff syndrome.'' ``Buschke-Ollendorff syndrome'' sisifo sezicubu ezidityanisiweyo esichaphazela indlela ulusu lwethu kunye namathambo ethu akhiwa ngayo.

I-Osteopoikilosis inokwenzeka njengenxalenye yemeko ebizwa ngokuba yi-mixed sclerosing bone dysplasia, ebangela izifo zamathambo ezingaphezu kwesinye. Kwimeko enjalo, usenokuba ne-osteopoikilosis kunye nezinye izifo zamathambo, ezifana nezi:

• I-Melorheostosis (ukukhula kwamathambo ngokugqithisileyo)
• `(Osteopathia striata)` okanye `(isifo seVoorhoeve)` (ukuqina nokuqina kwamathambo)

Zeziphi iimpawu ezibonakaliswa ngumntu one-Osteopoikilosis?

Iindaba ezimnandi zezokuba uninzi lwabantu abane-Osteopoikilosis abanazo iimpawu . Ungafumanisa ukuba unesi sifo ngengozi emva kokuba kwenziwe i-X-ray okanye olunye uvavanyo lwemifanekiso lwento ethile, njengethambo elaphukileyo.

Nangona kunjalo, malunga nabantu ababini kwabalishumi banokufumana ukudumba/ukudumba okanye iintlungu zamalungu. Le ntlungu ngamanye amaxesha isenokufana neentlungu ezifunyanwa zizifo ezifana ne-osteoarthritis okanye i-rheumatoid arthritis.

Oogqirha bayixilonga njani le meko (i-Osteopoikilosis)?

Njengoko bekutshiwo ngaphambili, abantu abaninzi bafunda ngale meko kuphela emva kokuba kwenziwe i-X-ray ngesinye isizathu, njengokwaphuka kwethambo. Oku kuthetha ukuba kudla ngokuba yinto eyenzeka ngengozi .

Ukuba ubona into efana nale, ungafuna ukubona ugqirha wamathambo, okwaziwa ngokuba "ngugqirha wamathambo." Angajonga ezinye iimeko ezinokubangela intlungu yakho, okanye acebise ezinye iimvavanyo zomfanekiso, ezifana ne-MRI okanye i-CT scan, ukuze kuthintelwe ezinye iimeko ezinzulu. Bangenza novavanyo lwegazi ukuze babone ukuba unayo na i-genetic mutation ebangela i-osteopoikilosis.

Ziziphi iindlela zonyango lwe-Osteopoikilosis?

Uninzi lwabantu abane-Osteopoikilosis abanazo naziphi na iimpawu, ngoko ke akukho nyango lufunekayo.Nangona kunjalo, ukuba uneentlungu okanye ukudumba kwamalungu, ugqirha wakho unokukunika amayeza okudambisa iintlungu, anjengee-analgesics, okanye amayeza angengo-steroidal anti-inflammatory (NSAIDs).

Ngaba ikho indlela yokuthintela le meko (i-Osteopoikilosis) ukuba ingaveli?

Ukuba ufumene ilifa le-gene etshintshileyo ebangela i-Osteopoikilosis, akukho nto unokuyenza ukuthintela le meko ukuba ingenzeki okanye ukuthintela ukuba i-gene ingadluliselwa kwizizukulwana ezizayo .

Liyintoni ikamva lomntu one-Osteopoikilosis? Ngaba kukho into omele uyoyike?

Le yeyona ngongoma ibalulekileyo. Iingxaki ze-`(Osteopoikilosis)` azixhaphakanga . Amathambo omntu one-`(Osteopoikilosis)` anamandla njengamathambo omntu ongenalo eli ngxaki.

Into ebalulekileyo kukuba i-Osteopoikilosis yimeko engeyongozi/engeyomhlaza. Ayinyusi umngcipheko wokuba nomhlaza wamathambo okanye ezinye iintlobo zomhlaza. Ngoko ke ungoyiki ngokungeyomfuneko.

Ndifanele ndibonane nogqirha nini?

Nokuba uyazi ukuba une-Osteopoikilosis, akusoloko kufuneka uye kugqirha ngaphandle kokuba uneempawu. Nangona kunjalo, licebo elihle ukubona ugqirha ukuba ufumana nayiphi na kwezi zilandelayo:

• Ukuba ufumana iintlungu okanye ukudumba kwamalungu akho .
• Ukuba ufumana iintlungu zamathambo ezingachazekiyo ngaphandle kwesizathu esicacileyo .

Yeyiphi imibuzo ebalulekileyo omele uyibuze ugqirha wakho?

Ukuba ugqirha wakho ukuxelela ukuba une-Osteopoikilosis, kubalulekile ukumamela imibuzo yakho. Umzekelo, ungabuza:

• "Gqirha, ngaba ndinazo ezinye iimeko ezinxulumene nale `(Osteopoikilosis)`?"
• "Ngaba kufuneka ndifumane naluphi na unyango lwale nto?"
• "Zeziphi iingxaki ekufuneka ndizixhalabise ngazo?"
• "Ingaba licebo elihle ukujonga ukuba abanye abantu bosapho lwam nabo banalo olu tshintsho lwezakhi zofuzo?"

Buza imibuzo efana nale ukuze uqonde kakuhle imeko yakho.

Ngoko ke, masishwankathele oko sithethe ngako. (Umyalezo Wokubuyela Ekhaya)

Kulungile, makhe sijonge oko sithethe ngako nge-Osteopoikilosis.

Singoyika xa sibona utshintsho oluthile emathanjeni ethu. Nangona kunjalo, i-Osteopoikilosis yimeko engaqhelekanga, engeyoyomhlaza . Abantu abaninzi bafumanisa ukuba banayo ngengozi. Ibangelwa lutshintsho kwijini elizuzwe ngomnye wabazali babo, nto leyo ebangela ukuba kubekho amabala axineneyo emathanjeni akho, ingakumbi ajikeleze amalungu. La mabala abonakala emhlophe kwi-X-ray. Ukuba unale meko, abantwana bakho banokufumana ilifa lejini elitshintshileyo.

Ukuba ufumana iintlungu okanye ukudumba kwamalungu, bona ugqirha. Iipilisi zokunciphisa iintlungu kunye namayeza okulwa nokuvuvukala anokubonelela ngoncedo. Kodwa khumbula,Uninzi lwabantu abane-`(Osteopoikilosis)` aludingi naluphi na unyango . Ngoko ke, kubalulekile ukuqaphela oku kwaye ungoyiki ngokungeyomfuneko.

I- Osteopoikilosis, isifo samathambo, isifo semfuza, uxinano lwamathambo, iintlungu zamalungu, i-X-ray, i-LEMD3 gene