Chisoni Gaucher: zimayambitsa ndi mankhwala

Chisoni Gaucher - matenda a khalidwe chibadwa, ozikidwa pa chosowa enzyme ndi nawo ndondomeko za kagayidwe kachakudya pa mlingo ma. Ndi chitukuko cha matenda pali mapangidwe woipa selo pathological mu zimakhala ndi ziwalo.

A mwachidule mbiri

Chisoni Gaucher - ndichiyani? Matendawa anali woyamba kuzindikiridwa kumbuyo mu 1882, pamene French dokotala Philippe Gaucher Charles anafotokoza zizindikiro wodwalayo ndi ndulu zikuluzikulu.

Mu 1924, madokotala anatha lithe ndi mafuta chinthu ndi nkhani za maselo nthenda, potero kupanga lingaliro la akuluakulu wothandizila causative matendawa.

Mu 1965, akatswiri a American mabungwe National a Health asonyeza kuti mapangidwe maselo zamagulu ndi chifukwa chakuchepa chawo thupi la glucocerebrosidase enzyme. Zotsatira matenda bwino linapereka maziko kukhala mankhwala yekha njira M'MALO michere. Njira zatsopanozi mankhwala si zingatheke kuthetsa matenda kwathunthu, koma anapereka mwayi kuchepetsa kwambiri maonekedwe ake.

Chisoni Gaucher Chaanthu. Ndi chiyani icho?

maphunziro Sociological amasonyeza kuti anthu 100 000 anthu chifukwa cha zosakwana 1% ya anthu ndi chibadwa pathological kuti chimachititsa matenda. Zingapo anati kuchuluka pafupipafupi kwa Ayuda - ochokera kuchigawo cha kum'mawa kwa Ulaya. Choncho amaganiza kuti Gaucher ayankhe amachita cholowa matenda ankaimira mtundu. Ndipotu, mawonetseredwe pathological wa kufala ali pafupipafupi mofanana amapatsira mwana wake womwewo ndi matenda ena amene anakhudzidwa lysosomes selo.

mitundu

Akatswiri kudziwa mitundu ingapo ya matenda:

1. Popanda neuropathy - mtundu ambiri matenda, chimene anthu ambiri asymptomatic. Ngati kufooka amphamvu thupi kumaonekeranso inapita patsogolo kukula kwa minofu nthenda. Pa nthawi yomweyo, maselo salimbikitsa sizikukhudzana ndi wamanjenje dongosolo ndi ubongo.
2. Ndi mawonetseredwe pachimake neuropathic - ndi mtundu yosowa kwambiri za matendawa. Yodziwika ndi pakutchulidwa wa pathologies ubongo mu zaka zoyambirira za moyo. Kafukufuku amasonyeza kuti popanda matenda mokwanira yake ndi chitukuko cha koyenera imfa mankhwala kumachitika pamaso zaka ziwiri.
3. Ndi neuropathy aakulu - matenda anafotokoza pang'onopang'ono maonekedwe pathologic, ndi kukhalapo zizindikiro neurologic khalidwe zolimbitsa. Mu masiteji ina ya kukula kwa maselo salimbikitsa amatsogolera ndi kuwonjezeka mu ziwalo mkati, kupuma dongosolo kugonjetsedwa kukhala maganizo. Kodi akuluakulu matenda aakulu amachita Gaucher chiyani? Sociology zikusonyeza kuti ambiri odwala adzapulumuke mukadzakula.

diagnostics

Funsani zosowa pathological kuchita zovuta chamoyo kafukufuku. Makamaka, matenda zolondola kumafuna ulendo katswiriyu, ndi dokotala, katswiri chibadwa. Panopa ntchito njira aluso, zotsatira za okhoza lozani chitukuko cha matenda:

1. Magazi - zolondola kwambiri matenda njira wakupatsa mwayi kudziwa kuchuluka kwa glucocerebrosidase enzyme ongokhala leukocyte tosaoneka ndi fibroblast.
2. DNA kusanthula - limasonyeza masinthidwe selo chibadwa. Matendawa n'zotheka mwa njira imeneyi mpaka 90% pa siteji ya chitukuko cha mwana wosabadwayo m'mimba.
3. Mafupa Kupenda - umalimbana akudzizindikiritsa khalidwe la matenda a kusintha pathological mu dongosolo minofu. Kugwiritsa ntchito njira yodziwira limachititsa kuti atsimikizire matenda, koma simungathe kudziwa malo selo - onyamula majini mutated.

Zizindikiro ndi zizindikiro za matenda

Monga tanena kale, mu magawo oyambirira Gaucher ayankhe asymptomatic. Pankhaniyi, kupanda glucocerebrosidase enzyme sikumangotikhudza ndi ziwalo ndipo amagwira wamanjenje dongosolo.

Mu matenda patsogolo siteji ndi pachimake, mwapang'onopang'ono khalidwe. Pa nthawi imeneyi, wodwala akumva malaise, zina amadwala ululu m'mimba, kuyambira kukula kwa maselo pathological amakhudza makamaka chiwindi ndi ndulu. Matupi amenewa ali kuchuluka M'BUKU ndi pakalibe matenda enieni ndi mankhwala nthawi zambiri pansi akugwera minofu.

Ichi ndi chiwonetsero cha zimene Gaucher. Mu Chaanthu, mawu kulibe, ngakhale Uilla Smita khalidwe ku kanema "Focus" anatero zosiyana.

Mawonetseredwe zizindikiro za matenda paubwana zambiri kumayambitsa chitukuko cha matenda a mafupa. mafupa mwana anayamba pang'onopang'ono, pali kuchedwa mu kukula ndi mapangidwe mafupa a.

Chisoni Gaucher: zamaganizo

Vuto lina lalikulu anakumana ndi anthu pa matenda majini - chikhalidwe cha malaise ambiri. Zimenezi, zimayambitsa zochuluka za mavuto a m'maganizo. Anthu amene amadwala matenda a mtundu pachimake, amatopa ngakhale pambuyo zina usiku wonse.

Ana, Gaucher ayankhe amachititsa kupanda mphamvu ndi ndende. Pachifukwa ichi, n'zovuta kulankhula ndi anzawo, kusewera ndi anzanga, masewera olimbitsa thupi, kuganizira ntchito pophunzira nawo moyo pagulu.

Kukhala ndi kuwonongeka mu maganizo a wodwala akhoza kusintha maonekedwe. Mwana kunyoza chifukwa kukula osakwanira, chidzalo, underdevelopment minofu. Anthu pansi kuwonekera kwa matenda mu mawonekedwe pachimake, kawirikawiri amadwala umboni deta kunja anakhumba chithunzi cha nokha. Thandizo kuthetsa mavuto pamwamba amatha uphungu maganizo.

zotsatira zotheka

Ngati Popanda kuchitapo kanthu, zotsatira za matenda chimakhala:

• profuse magazi mu ziwalo m'mimba;
• kuwonongeka chiwindi minofu ndi ndulu;
• laryngeal spasms, mpaka kutha wathunthu kupuma;
• chitukuko cha kulephera kupuma, kawirikawiri chibayo;
• njira zowononga m'kupita kwa fractures fupa;
• mafupa matenda.

chithandizo

Si kale mankhwala kumafuna yekha kuchotsa zizindikiro zazikulu za matenda. Popeza 90 ntchentche za m'ma wotsiriza monga njira zikuluzikulu za mankhwala anayamba ntchito m'malo fermentoterapii, imene imakhudza oyamba mu thupi la glucocerebrosidase kusinthidwa selo. Amapanga makope enzyme ntchito ya mbali ya chibadwidwe magazi chimadzaza kapangidwe ndi akusowa ake mu thupi. Majekeseni ndi nkhani za mankhwala akhoza kuthetsa zizindikiro zoipa matenda, ndi zina kuletsa mapangidwe maselo nthenda ambiri.

Magawowa chikhalidwe anthu ambiri odwala Kwalamulidwa analgesics. Ndi kupitirira kwa matenda adasonkhananso kuchotsa mbali ya chiwindi kapena ndulu. Nthawi zina, vuto la nalola mafupa kumuika.

pomaliza

Chisoni Gaucher - ndichiyani? Monga mmene taonera, kudwala ndi contravention mokwanira zizindikiro CHOSADZIWIKA. Chithandizo bwino akudzizindikiritsa kudwala mu magawo oyambirira, chiyambi oyambirira M'MALO chithandizo mwachindunji akusonyeza. Kuyankha belated kuti vuto kumabweretsa chitukuko cha mavuto aakulu, ndi chifukwa cha kusowa kwa mankhwalawa kawirikawiri amapha.