Orphan zvirwere uye ayo kurapwa. Enumeration nherera zvirwere

BP, gastritis, chirwere cheshuga - zviri zvikuru zvakajairika chirwere. Ishamwari dzedu, vadiwa, isu, pakupedzisira. Asi pane vakawanda kushoma chaizvo zvirwere. New zvirwere, izvo vanhu havana kusangana kare, dzakaonekwa ose gore. Saka, nherera zvirwere - chii? Kugadzirisa here?

Orphan zvirwere: chii?

Orphan zvirwere hadziwanzowaniki chaizvo chirwere. Vari anonziwo "nherera". Asi, izvi zvisingawanzoitiki pathologies pane vanenge zviuru zvinomwe. Sezvineiwo, mukana kuwana mumwe wavo ari iduku kwazvo. Kana tikafunga rose Vagari Nyika, isingawanzowanikwi nherera chirwere kunoitika muna mumwe munhu kubva zviuru zviviri. Munyika dzakasiyana, nhamba iri Orphan pathologies dzinosiyana-siyana zvichienderana mararamire chavagari, ayo kuvabereki maitiro, uye zvichingodaro .. Somuenzaniso, kare akanyura mugomba Europe maperembudzi denda muzhizha, asi kuIndia ari chikamu varwere kwakakwirira zvikuru kupfuura mune dzimwe nyika.

Sezvo vanhu vari kutengeswa hazvikubatsiriyi vanopedzisira yokudzivirira uye mishonga nokuda kunotsvaka zvisingawanzoitiki zvirwere, Hurumende inoti zvinosimudzira muitiro uyu nehurumende pamwero. Uyezve, vanhu vachitambura kubva nherera pathologies, vanoda rubatsiro uye zvakanakira. Resolution pamusoro Nherera zvirwere, nevamwe hurumende yeRussia April 26, 2012, rinotarisirwa waidzora zvose nyaya chokuita dzichipa wezvokurapa uye nezvimwe kubatsira vanhu vakadaro.

Kwakatangira nherera zvirwere

In zvirwere nherera zvinokonzerwa vachiberekwa uye dzevanhu genetics. Vanogona kuwanikwa pakarepo pashure pokuberekwa kwomwana kana muuduku. Asi ruzhinji chirwere kuva pachena chete nguva, apo mumwe munhu anokura.

Pakati zvisingawanzoitiki zvokurwara chirwere chinogona kuwanikwa, ane chitarisiko nokuda noutachiona, autoimmune uye chepfu pezvakaitwa mumuviri. rutsigiro zvakanaka kukura nherera zvirwere - wakawedzera nemwaranzi uye murombo ezvinhu zvemhoteredzo, uyewo zvirwere noruzivo pauduku, kuderera masoja emuviri uye nhodzera.

Orphan zvirwere zviri nyore kurapa, saka ivo dzaanoda kupinda chirwere pachikuva. Sezvo kurambidza pathological pezvakaitwa mune zvimwe zviitiko zvisingaiti, unhu murwere roupenyu kuipa, uye pakupedzisira rufu kunoitika. The chikuru basa rose kurapwa - kuwedzera upenyu anotarisirwa, kuderedza nokuratidzwa zviratidzo uye kuvandudza murwere anogona kuita.

Nherera zvirwere: sezvakarayirwa Ministry of Health of Russian Federation

The Russian zvirwere nherera ndechokuti kunoitika ane kakawanda 10 100 000. The kuti Orphan Diseases, rakabudiswa hurumende yeRussia muna 2012, akazivisa zvakajeka pasi isingawanzowanikwi zvirwere. Ivo kuverenga 230 mazita: nephrotic urwere, kusimba X-chromosome, Angelman urwere, katsi kuchema, Lejeune urwere, Williams urwere, etc ...

Chirevo hurumende ine mitemo kunyoresa vanhu vanotambura nherera nezvirwere, uye zvinofanira achivapa kurapwa.

Kana tinotenda mashoko makondohwe (Russian Academy of Medical Sciences), mu Russia vanhu vanenge 300 000 vanotambura nherera pathologies. Zviremera Regional tichiregeredza yomunharaunda bhajeti iri mari nherera zvirwere zvavo kurapwa.

Hunokosha nzira, iyo anobvumira nguva kuziva achangoberekwa imwe shanu zvisingawanzoitiki enhaka zvirwere, rinoitwa muzvipatara zvose pashure pakaberekwa mwana pachena. rinonzi "neonatal kuongorora".

24 nherera chirwere chakakomba kutyisidzira upenyu hwevanhu

Also vakanyora pamutemo pakarongwa zvisingawanzoitiki zvirwere, izvo kazhinji kutungamirira mangwanani rufu kana kuremara wevarwere pamusoro munharaunda Russia.

The mutsetse wokutanga iri nherera zvirwere sezvo hemolytic-uremic syndrome. Hus ane toxicological hunhu, zvinotungamirira renal insufficiency uye kupera mvura mumuviri.

Uyewo ari pamazita yaisanganisira Marchiafava-Micheli chirwere chokuita nokuparadzwa masero matsvuku eropa, aplastic kupererwa neropa, kutaurwa, kurwara-Prauera Stewart uye Evans syndrome. Evans chirwere - remubatanidzwa wenyika autoimmune hemolytic kupererwa neropa uye kutanga akadai autoimmune thrombocytopenia.

Mumwe zvinhu zviri pamazita - ihosha, "mumeporo manyuchi": nemagene chirwere chinokurwadzai kuzara iri weti nedzimwe zvinhu, zvichiita Rinofembedza akafanana mumeporo muti.

Kutyorwa nuna iine acid muviri, homocystinuria, glyutarikatsiduriya, galactosemia - zvirwere zvose izvi iri kuiswawo pakati pemazita uye kukonzera ngozi.

Hemolytic uremic chirwere

chirwere ichi yakatanga kurondedzerwa muna 1955. Nokukurumidza chirwere Gasser akapinda mazita kwezvirwere nherera munyika isingawanzowanikwi.

The chirwere zvikuru nevakawanda vana kupfuura nedzevakuru. Iye chinokurwadzai hemolytic kupererwa neropa uye renal kukundikana. Kunenge pamusoro pakanyorwa manyoka uye yokumusoro kufema turakiti hweHIV.

Ndokuona ukama pakati kukura chirwere uye kushandisa nomumukanwa nhumbu, zvinodhaka, uye kuvapo kana murwere AIDS pamwe chinonzi systemic lupus erythematosus.

The chirwere unogona kuva nhaka uye vakapfuura vachibva vabereki vana nokuda dominatnomu kana recessive unhu.

Vakatodzidza hemolytic uremic chirwere iri kukonzerwa muchetura uye utachiona zvinogona kukuvadza masero endothelial. Hunoshamisa Nhamba nyaya (anenge 70%) iri kukonzerwa chirwere E. coli O157: H7. Zvinokwanisika kuti utachiona katsi, uye pashure pokudya nyama achigere zvakakwana kupisa kurapwa mvura yakatsvuka uye unpasteurized mukaka.

Cystic fibrosis - vakawanda chirwere muRussia Orff

Of nherera zvirwere zvose cystic fibrosis mu Russia kunoitika kakawanda. chirwere ichi anonzi kuva nhaka uye kunoratidzwa muna mwana kubva pamazuva oupenyu okutanga.

Chikonzero Kumwe kuchinja kunotanga pamuviri - munhu mutation a Gene inotungamirira vawedzere kuunganidza viscous madzihwa siyana dzomuviri. Pane zvakawanda siyana cystic fibrosis: pulmonary Escherichia coli, broncho-pulmonary uye intestinal.

Kukurirwa pamusoro principales nemapapu pamwe kunhivi makore maviri mwana anotanga anopisa vangakosora, achiperekedzwa gobvu phlegm. Pakadaro, kana pathological mutoo anobatana noutachiona hwapedyo idzokororo bronchitis kana nemabayo.

Intestinal chimiro pamwe kwakaderedza enzymatic nezvebasa mudumbu, kukonzera undigested zvokudya muura inotanga kuora. Izvi zvinotungamirira kudhaka, chetsoka nyonganyonga, kurutsa uye t. D.

zvirwere Treatment nherera dziri rikwanise muchimiro rinoitwa muchipatara. Chinangwa chikuru chemusha yokurapa mu cystic fibrosis - vachinyatsoziva kubvisa zviri madzihwa kubva muviri ( «N-acetylcysteine"), kuwedzera enzymatic basa mudumbu uye rwatata ( "Pancreatin", "wokupembera").

Chisingaperi mucosal candidiasis

Zvakadai zvirwere nherera sezvo chirwere mucosal candidiasis, chokuita havachanyatsogoni leukocyte chaitika. Izvi zvinotungamirira pakuti cutaneous uye mucosal nyama dzomuviri kuva nokuda notumwe ari genus Candida yemagora. The chirwere kunokonzerwa genetics dzevanhu uye nhaka.

Ndezvipi zviratidzo zviri hunhu chisingaperi mucous candidiasis?

1. Chekutanga, ganda, nzara uye mucosal rinenge kunetsekana chakuvhe.
2. Chechipiri, munhu nguva dzose anonzwa kuneta uye lethargy. It achinetseka BP.
3. Chechitatu, kana hosha ipfupi ropa shuga yomuropa nokugwinha kuoneka.
4. Chechina, zvichida vhudzi kurasikirwa uye chitarisiko hyperpigmentation ganda.

Chirwere mucosal candidiasis chinokurwadzai kukura chisingaperi zvemapapu chirwere, uye kuzvimba chiropa. In vana, hosha rinoita slowdown ari kukura.

Chirwere kunoitika kuburikidza magene tsvakurudzo.

Nzira huru kurapa - ari kugamuchira antifungal yomuchipatara ( "Nystatin" "clotrimazole" nezvimwewo ...).

zygomycosis

The pamazita zvirwere isingawanzowanikwi nherera anosanganisirawo zygomycosis.

chirwere ichi anotanga kuva pashure chirwere dimorphic notumwe. Vanopinda muviri inhalation kana kuburikidza kuputswa ganda. Dimorphic notumwe vanogara nzvimbo dzakakwirira mwando - muvhu, miti kuora. Mune zvimwe zviitiko, ivo aonekwa mildewed zvibereko, chizi uye chingwa.

Zygomycosis sick kwakaoma zvisingaiti ane kutapata utano. Kune vashoma kwazvo zviitiko apo munhu utano munhu utachiwana pashure rakapinza maronda uye zvipembenene ikaruma pamwe notumwe.

Kumboda zygomycosis inobata vanhu vane simba kwazvo zvirwere:

• chirwere cheshuga;
• chirwere kwenguva refu acidosis;
• nokuisazve nhengo;
• uchisangana glucocorticoid kurapwa;
• noutachiona AIDS.

Zygomycosis zvishoma nezvishoma inotungamirira necrosis kuti munyama nemidziyo ropa, kuti vari howa. Naizvozvo, mabatiro ndiye hasha uye inonyatsobudirira kwomuchipatara zvevakomana ndivo excision kuti zvinyama uye kushandisa amphotericin B pamatunhu mishonga.

Lynch urwere

Orphan zvirwere kuti wema yoku- nemazita matsva nerimwe gore, vanosanganisira Lynch chirwere - kenza muura kuti nhaka. Panyaya iyi, kenza kukura somugumisiro nemagene kunotouraya uye zvokurwara majini akawanda. Ndokusaka haagari muchikwata che kwakajairika kenza.

chirwere ichi, zvinosuruvarisa hakuzivani: mu Europe inowanikwa mumwe munhu kubva zviuru zviviri. Isai chirwere chakadaro zviitiko apo pasina hama zvisingasviki matatu murwere (rokutanga kuitira) vakanga kenza muura aine makore 50.

The vatakuri mutant Gene vari vafanorongerwa kwete chete kune intestinal nekenza, asiwo colorectal kenza, kenza yacho endometrium, ovary, dumbu, pfungwa, uye zvichingodaro. D.

The chirwere kunokwanisa kuonekwa maererano nzira Amsterdam II.

thymoma

A pamazita zvirwere isingawanzowanikwi nherera zvinosanganisira thymoma. Pasi zita iri anovanza marudzi ose thymic anomera. Kazhinji benign, asi tsanangudzo akadaro ndokunge chaizvo. Pasina kurapwa, mapundu aya anogona metastasize, uye pashure kubviswa - recur.

Panguva thymoma kushanda kunoita pachayo akanzwa. Kana zvasvika imwe saizi, zviratidzo compression ose pedyo nadzo, pane mumatenhere pamutsipa mutsinga, uye kupfupika mweya uye mwoyo palpitations. Vana thymoma anogona yekudyidzana deform chipfuva.

Kuwedzera zviratidzo izvi zvingaitika:

• puffiness chiso;
• exacerbation kuti zvirwere zvokufema;
• Marwadzo zvichiratidza kuti fudzi nzvimbo, mutsipa uye pakati pamafudzi mashizha.

Thymoma chirwere kushandisa radiological kuongororwa, computed tomography.

The chikuru treatment - kushanda. Kubviswa bundu zvakakodzera, zvikasadaro uchamera, uye utano murwere kudzikira.

Sarcoma remafupa uye articular shwashwa Mbabvu

Sarcoma (akaipa bundu kana) pfupa uye articular shwashwa - ichi nherera chirwere. A pamazita zvisingawanzoitiki pathologies rinosanganisira sarcoma, sezvo asiri chaiwo kenza.

Classic kenza inoumbwa ne epithelial masero, uye sarcoma panyaya iyi hakungoitwi - kunogona kukanganisa mapfupa (osteosarcoma), shwashwa (chondrosarcoma), tsandanyama (miosarkoma), mafuta (liposarcoma), masvingo ropa uye node midziyo. Mamwe sarcoma zvakafanana zvatinosiita kenza, asi kuti ari kukura nokukurumidza kumhanya.

The zvinokonzera chaiye chirwere ichi haisati dzatangwa. By afunge zvinhu zvinosanganisira mota vaongorori:

• kugarotamba carcinogens;
• simba anokuvadza makemikari;
• nemwaranzi;
• utachiwana hweHIV;
• zvinokuvadza.

Early chirwere chirwere kwakaoma zvisingaiti. Sarcoma pachayo anenge haaratidzi, kunze kuti titadze kurwadziwa bundu nzvimbo. Mishonga, vavhiyiwa, nemwaranzi kurapa - huru nzira pakurapa chirwere.

retinoblastoma

Orphan zvirwere umo zvinyore 230 unotora RF mazita anosanganisira uye retinoblastoma. chirwere ichi Rinobatanidzwa ne nezve akaipa nebundu pamusoro the retina. Hazvina majini: yakakonzerwa mutation of Rb Gene.

Retinoblastoma kachitanga mucheche uye kuchiwedzera makore maviri. The chirwere chinogona kukurukurwa sezvinoitwa chevana, kubvira zvikuru nhamba zviitiko chirwere ari makore mashanu okutanga oupenyu.

The chikuru Zviratidzo chirwere zvinosanganisira tyisa sokupenya mboni, ocular marwadzo uye pakarepo kurasikirwa zvaakaratidzwa. Asi mwana kuziva zviratidzo izvi zvinenge zvisingaiti.

Nokuti nechirwere waida MRI, Ultrasound, CT.

Nokuti kurapwa rakaiswa kuchinja nzira, asi unodhura nokuti-vhiki shanu kosi nemwaranzi mishonga iri makiriniki kutora 10 kusvika 12 zviuru euros (anenge zviuru 100 rubles). rinoshandiswa Cryotherapy nevakawanda, uyewo photocoagulation. The chikuru kushandisa nzira idzi kuti vanobvumira kuti aponese chiratidzo murwere.

Hodgkin chirwere

Chimwe zvakafanana nherera zvirwere - a rwekenza yelymphoma (chirwere Hodgkin raMwari). Chirwere inobata chete nhengo ane lymphoid tishu. Naizvozvo, kupfuura zvinoita chiratidzo chacho - zviri kuzvimba node nodes. Zvikurukuru pathological pezvakaitwa zvinokanganisa abdominal uye thoracal in. Somugumisiro, murwere anonzwa kurwadziwa muchipfuva, kupfupika kufema nemiedzo, ainetseka pamusoro chikosoro uye kurasikirwa kudya. In Muzviitiko zvakaipisisa, kuwedzere node nodes vanokwanisa vomanikidza mudumbu, uye kunyange dzinofamba neitsvo.

Fever, vangadikitira, uye kunzwa munhu kakawanda chills pamwe kukura Hodgkin chirwere.

Zvikonzero kuti pave nekukurukurirana pathological pezvakaitwa ari lymphoid zvinyama, masayendisiti akawana. Pane mazano kuti kukura chirwere atanga Epstein-Barr utachiona kana zvirwere kwokusakwana.

Pakurapa Hodgkin nehosha iri mubasa oncology uye hematology. Murwere kaviri Ultrasound uye biopsy muitiro, CT kana MRI.

Kana musingadi kubata pamwe kurapwa kwezvirwere, rufu kunoitika mukati mumakore 10. The chikuru nzira kurapwa - ari kugamuchira anticancer zvinodhaka uye nemwaranzi kurapa.

Saka, pane chisingawanzoitika zvirwere zvakawanda. Vamwe vavo vari inowanikwa vanhu zvachose nyika dzose, uye vamwe - bedzi zvakananga kumatunhu panyika. Medical nemari varwere vanotambura zvisingawanzoitiki zvirwere, chikamu evanhu purogiramu dzose dzakabudirira.