Izifo Orphan kanye nokwelashwa yayo. izifo okubaliwe intandane

Umfutho ophakeme wegazi, kolwelwesi, isifo sikashukela - kungcono isifo ezivamile ngempela. Bangabangane bethu, abathandekayo, nathi ekupheleni. Kodwa kunezinto eziningi izifo ezingavamile kakhulu. izifo okusha, okuyinto abangazange nato ngembi, itholiwe njalo ngonyaka. Ngakho, izifo kedama - kuyini? Indlela uyiphatha?

izifo Orphan: kuyini?

izifo Orphan kukhona isifo ezingavamile kakhulu. Zibizwa ngokuthi nangokuthi "intandane". Noma kunjalo, lezi pathologies ezingavamile kukhona angaba yizinkulungwane eziyisikhombisa. Ngenhlanhla, ematfuba kutholakala omunye wabo lincane kakhulu. Uma sicabangela sonke isibalo sabantu Zomhlaba, ezingavamile intandane isifo kwenzeka kumuntu oyedwa ezinkulungwaneni ezimbili. Ngokwesibonelo, emazweni ahlukahlukene, izibalo ku pathologies Orphan iyahlukahluka kuye ngokuthi lokube nawo ezingeni lekuphila sabantu, izici zaso zofuzo, nokunye .. Ngokwesibonelo, kudala ashona Europe uchoko ubhubhane ehlobo, kodwa e-India iphesenti iziguli iphakeme kakhulu kunanoma kwamanye amazwe.

Njengoba abantu kukhona okudayiswayo ezingenanzuzo ukutshala e yokugoma nemithi zosesho izifo ezingavamile, Uhulumeni uthi kudaleke le nqubo ezingeni wombuso. Ngaphezu kwalokho, kubantu abaphethwe pathologies oyintandane, udinga ukwesekwa kanye nezinzuzo. Ukulungiswa ku izifo uyintandane, wuhulumeni Russian Apreli 26, 2012, kuhloswe ukuba alawule zonke izingqinamba elihlobene ne bathole usizo lwezokwelapha kanye nezinye bantu.

Umsuka izifo kedama

In izifo eziningi intandane zibangelwa izici zofuzo azalwa naso futhi womuntu. Bona ingatholakala ngokushesha emva kokuzalwa kwengane noma ebuntwaneni. Kodwa iningi isifo sobala kuphela isikhathi, lapho umuntu ekhula.

Phakathi ezingavamile isifo zokugula zingatholakala, osimo ngenxa izinqubo ezithathelwanayo, sokuhlasela kwamasosha omzimba futhi enobuthi emzimbeni. ukwesekwa kuhle ekukhuleni kwezifo intandane - anda ngemisebe zezemvelo abampofu, kanye nezifo wazibonela ebuntwaneni, buthakathaka isimiso sokuzivikela komzimba futhi ufuzo.

ngokuvamile izifo Orphan kunzima ukwelapha, ngakho ageleze kahle ku esigabeni ezingamahlalakhona. Njengoba kokumisa izinqubo sokugembula kwezinye izimo akunakwenzeka, izinga lesiguli zokuphila liwohloka, futhi ekugcineni ekufeni kwenzeka. Umsebenzi oyinhloko zonke izinqubo zokwelapha - ukwandisa isikhathi sokuphila, ukunciphisa ukubonakaliswa izimpawu futhi bathuthukise ikhono lesiguli isinyathelo.

izifo Orphan: oda Ministry of Health we Russian Federation

I-Russian izifo yintandane ukuthi okwenzeka nge imvamisa 10 100 000. I-oda for Orphan Izifo, enyatheliswa uhulumeni waseRussia ngo-2012, wabonisa ngokucacile ukuthi singobani uhlu izifo ezingavamile. Selibalelwa 230 amagama: syndrome nephrotic, ethambile X-chromosome, Angelman syndrome, ikati ukukhala, Lejeune syndrome, Williams syndrome, njll ...

Futhi isinqumo sikahulumeni iqukethe imithetho ukubhaliswa kwabantu abaphethwe izifo intandane, kanye nenqubo for hlinzeka them ukwelashwa.

Uma sikholwa izinqama idatha (Russian Academy of Medical Sciences), eRussia abantu abangaba ngu-300 000 uhlushwa pathologies intandane wayikhulisa. Iziphathimandla Regional ngezithukuthuku isabelomali yasendaweni nokuxhasa izifo intandane imithi yabo.

inqubo Okubalulekile, okuvumela isikhathi ukuhlonza osanda kuzalwa ngenye izifo ezinhlanu ezingavamile ngofuzo, wenziwa zonke izibhedlela ngemva kokuzalwa kwengane yakho mahhala. ibizwa ngokuthi "Ukuhlolwa ezisanda kubelethwa".

24 isifo intandane okusongela sina ukuphila komuntu

Futhi ihlanganiswe uhlu olusemthethweni izifo ezingavamile, okuyinto ngokuvamile iholela ekufeni noma ukukhubazeka iziguli ekuqaleni ensimini ka-Russia.

Umugqa wokuqala kuyinto izifo kedama njengoba hemolytic-uremic syndrome. Hus has imvelo toxicological, kuholela esingamahlalakhona kwezinso olubi nokuphela kwamanzi emzimbeni.

Futhi ohlwini kuhlanganisiwe isifo Marchiafava-Micheli ezihambisana ngokubhujiswa namangqamuzana abomvu egazi, isifo sokulahlekelwa igazi aplastic, elingacacisiwe, ukugula-Prauera Stewart futhi Evans syndrome. Evans syndrome - ekhuthaza of sokuhlasela kwamasosha omzimba anaemia hemolytic futhi into enjalo njengoba thrombocytopenia sokuhlasela kwamasosha omzimba.

Omunye izinto uhlu - iyisifo, "Maple isiraphu": isifo esidluliselwa ngofuzo kuphakamisa ukuminyana umchamo izinto ezithile, okubangela it inuka maple esihlahleni.

Ukuphulwa okunamafutha acid umzimba, homocystinuria, glyutarikatsiduriya, galactosemia - zonke lezi zifo futhi afakwe ohlwini bese kungaholela emiphumeleni engathí sina.

Hemolytic uremic syndrome

Lesi sifo kwase kuqala ezichazwe 1955. Ngokushesha lesi sifo Gasser langena uhlu izifo kedama sika emhlabeni ezingavamile.

Lesi sifo landile izingane kunakubantu abadala. Yena wenza anaemia hemolytic futhi ukwehluleka kwezinso. Kubonakala on isizinda sohudo engenhla zokuphefumula ipheshana ukutheleleka.

Waphawula ubudlelwano phakathi ukuthuthukiswa lesi sifo futhi ukusetshenziswa zokuvimbela inzalo temlomo, izidakamizwa, futhi ukuba khona noma onengculaza systemic lupus erythematosus.

Lesi sifo kungaba zenani elikhulu eziyifa kanye badlula abazali ukuba izingane dominatnomu noma isici esikhubazayo.

Ngazuza hemolytic uremic sifo senziwa ubuthi namagciwane ukuthi kungalimaza amaseli endothelial. Inombolo obuqand amacala (cishe 70%) is senziwa igciwane E. coli O157: H7. Kungenzeka ukuba batheleleke amakati, futhi ngemva kokudla ukudla ubungekona ukwelashwa ukushisa eyanele yamanzi engahluziwe ubisi unpasteurized.

cystic fibrosis - lesi sifo ezivamile eRussia Orff

Kuzo zonke izifo kedama cystic fibrosis eRussia kwenzeka kaningi kunabo. Lesi sifo ubhekwa zenani elikhulu eziyifa kanye kubonakala ingane ngezinsuku zokuqala zokuphila.

Imbangela izinguquko sokugembula emzimbeni - a ngokuguqula izakhi isakhi eholela ekuqongeleleni anda isikhwehlela viscous kwezitho zomzimba ezahlukene. Kukhona izinhlobo eziningana cystic fibrosis: Escherichia yamaphaphu, broncho-yamaphaphu futhi emathunjini.

Lapho kunqotshwa ze- bronchi namaphaphu kanye emhlabeni eminyakeni emibili ingane iqala ukuhlupha ukukhwehlela, ephelezelwa phlegm obukhulu. Kuleso simo, uma inqubo sokugembula ijoyina obenesifo eba ukucinana kwemigudu yokuphefumula yansukuzonke noma i-pneumonia.

ifomu emathunjini ephelezelwa umsebenzi enciphile enzymatic of esiswini, okubangela ukudla undigested emathunjini iqala ukubola. Lokhu kuholela ukudakwa, sezinyawo disorder, ukuphalaza, kanye t. D.

izifo Ukwelashwa intandane ngefomu acute wenziwa esibhedlela. Injongo eyinhloko yawo yokwelapha cystic fibrosis - esiphuthumayo ngesikhathi esifanele isikhwehlela kusukela umzimba ( «N-acetylcysteine"), okwandisa umsebenzi enzymatic of isisu kanye amanyikwe ( "Pancreatin", "zemikhosi").

Okungalapheki candidiasis mucosal

izifo kedama okunjalo njengoba ezingamahlalakhona candidiasis mucosal, ezihambisana kahle leukocyte umsebenzi. Lokhu kuholela yokuthi kwezicubu cutaneous futhi mucosal yomzimba esibambe kalula isikhunta bohlobo lwe-Candida. Lesi sifo kubangelwa zofuzo lomuntu futhi ngofuzo.

Yini izimpawu nobuntu ezingamahlalakhona candidiasis lwamafinyila?

1. Okokuqala, isikhumba, izinzipho kanye mucosal izicubu ehlaselwe ukhunta.
2. Okwesibili, umuntu njalo azizwa ukukhathala ukucobeka. It uhlushwa umfutho ophansi wegazi.
3. Okwesithathu, lapho isifo kuyehla amazinga kashukela futhi Ukudlikizela ukuvela.
4. Okwesine, mhlawumbe ukulahlekelwa izinwele futhi ukubukeka hyperpigmentation kwesikhumba.

Okungalapheki candidiasis mucosal kuphakamisa ukuthuthukiswa ezingamahlalakhona wamaphaphu nesifo, kanye ne-hepatitis. Ezinganeni, lesi sifo kubangela Ukwehla e ukukhula kanye nokuthuthuka.

Sifo kwenzeka ngokusebenzisa ukucwaninga ngofuzo.

Indlela eyinhloko yokwelashwa - useyayamukela ejenti antifungal ( "Nystatin" "clotrimazole" njll ...).

zygomycosis

Uhlu izifo kedama ezingavamile sihlanganisa zygomycosis.

Lesi sifo iqala ukuthuthukisa emva kokutheleleka isikhunta dimorphic. Bangenela emzimbeni by ephefumula noma ngesikhumba esilimele. isikhunta Dimorphic kohlala ezindaweni nge umswakama high - enhlabathini, ezibolile izitshalo. Kwezinye izimo, kuvela izithelo mildewed, ushizi nesinkwa.

Zygomycosis ogulayo cishe akunakwenzeka nge amasosha omzimba ephilile. Kukhona amacala ambalwa kakhulu lapho umuntu enempilo etheleleka isikhunta emva okungena ekujuleni amanxeba kanye ukulunywa yizinambuzane.

Ngokuyinhloko zygomycosis kuthinta abantu buthaka kakhulu omzimba:

• abanesifo sikashukela;
• abaphethwe lactic isikhathi eside;
• ukufakelwa izitho;
• welashelwa glucocorticoid;
• itheleleke nge-AIDS.

Zygomycosis kancane kancane kuholela necrosis kwezicubu futhi imithambo yegazi, lapho kukhona amakhowe. Ngakho-ke, ukwelashwa abanonya ukwelashwa okuphumelelayo kakhulu kuze kube manje kukhona excision kwezicubu futhi ukusetshenziswa amphotericin B ebulilini.

Lynch syndrome

izifo Orphan ukuthi uhlu olusha ne amagama amasha unyaka ngamunye, zihlanganisa Lynch syndrome - umdlavuza colon ukuthi omkhulu sitholwa njengefa. Kulokhu, umdlavuza eba ngenxa ukuguquka kwezakhi zofuzo pathology zezakhi zofuzo eziningana. Yingakho-ke ingeyona isigaba umdlavuza ezivamile.

Lesi sifo, ngeshwa, kuvamile: eYurophu butholakala oyedwa ezinkulungwaneni ezimbili. Beka kokutshelwa ngokukhubazeka kwengane ezimweni lapho kungekho izihlobo abangaphansi kuka-amathathu isiguli (oda lokuqala) abangu unomdlavuza ikholoni eneminyaka engu-eminyakeni engu-50.

Abathwali isakhi sofuzo asabekayo beyizidlova ukuba ningabi nje kuphela zomdlavuza emathunjini, kodwa futhi ukuba umdlavuza colorectal, umdlavuza we endometrium, esibelethweni, isisu, ubuchopho, nokunye. D.

Lesi sifo sitholakale umuntu ngokuvumelana nezimfuno Amsterdam II.

thymoma

Uhlu izifo kedama ezingavamile kuhlanganisa thymoma. Ngaphansi kwaleli gama efihla zonke izinhlobo izimila thymic. Ayevame kungavamile ukuba ingozi, kodwa incazelo enjalo kunemibandela kakhulu. Ngaphandle kokwelashwa, lezi izimila kungaba iyakhula, futhi ngemva ukususwa - ziyabuya.

Ngesikhathi thymoma cishe kwenza ngokwayo wazizwa. Lapho isifinyelele osayizi abathile, izimpawu kokucindezelwa kwezitho eseduze, kukhona ukuvuvukala ngemithambo entanyeni, iphika inhliziyo palpitations. Izingane thymoma kungaba ngokuphawulekayo deform esifubeni.

Ngaphezu lezi zimpawu zingase zenzeke:

• puffiness ebusweni;
• exacerbation izifo zokuphefumula;
• Ubuhlungu imbuthuma endaweni ehlombe, entanyeni phakathi izindwani ehlombe.

Thymoma kutholakala ukuthi uphethwe yini usebenzisa luhlolo radiology, tomography ngekhompyutha.

Le nqubo yokwelapha main - op. Ukususwa yesimila kuyadingeka, kungenjalo luyokhula, nempilo yesiguli buba bubi nakakhulu.

Sarcoma ithambo futhi articular uqwanga nemilenze

Sarcoma (ebulalayo isimila noma) amathambo articular uqwanga - lesi sifo intandane wayikhulisa. Uhlu pathologies ezingavamile kuhlanganisa Sarcoma, ngoba akuyona umdlavuza ejwayelekile.

umdlavuza Classic ezakhiwe amaseli EPITHELIAL, futhi Sarcoma kulokhu akugcini - kungangena ithambo (osteosarcoma), uqwanga (chondrosarcoma), imisipha (miosarkoma), amafutha (liposarcoma), izindonga igazi lymph izitsha. Ezinye izindaba zika-Sarcoma kufana umdlavuza evamile, ngaphandle kokuthi, okhula endaweni ijubane ngesivinini esikhulu.

Izimbangela zangempela lesi sifo ingakamiswa aqine. Ngu ingqondo zici zihlanganisa isimila abacwaningi:

• ukuchayeka carcinogens;
• kwethonya amakhemikhali ayingozi;
• ngemisebe;
• virus ukutheleleka;
• ukulimala.

ekuhlonzweni zesifo cishe kungenakwenzeka. Sarcoma ngokwalo cishe alibonisi, ngaphandle ukuthi ubuhlungu buthuntu isayithi lwesimila. Ukwelashwa ngamakhemikhali nokushiswa ukuhlinzwa, ukwelashwa ngemisebe - izindlela main ukwelapha lesi sifo.

retinoblastoma

izifo Orphan lapho uhlu 230 yakhiwa amagama RF zihlanganisa futhi retinoblastoma. Lesi sifo lihlotshaniswa ukubonakala isimila esibulalayo kuyi-retina. Kuyinto zofuzo: okubangwa ngokuguqula izakhi RB zofuzo.

Retinoblastoma ucala kutfutfukisa esewusana futhi singasalawuleki iminyaka emibili. Lesi sifo kubhekwe njengento nursery, njengoba inombolo obuqand amacala okutholakala ukuthi banesifo sochoko eminyakeni yokuqala emihlanu zokuphila.

Izimpawu oyinhloko sifo zihlanganisa ukuvutha okungesona esingokwemvelo umfundi, ubuhlungu ocular nokulahlekelwa ngokuzumayo umbono. Kodwa ingane ukuhlonza lezi zimpawu cishe kungenakwenzeka.

Ukuze kuhlonzwe edingekayo MRI, imisindo ephansi, CT.

Ngoba impatho isicelo izindlela ngoludala, kodwa ayabiza, ngokuba lokuyofunda amasonto amahlanu ukwelashwa ngemisebe semitholampilo ukuthatha 10 kuya kwezingu-12-euro (ruble ecishe ibe yizinkulungwane 100). Cryotherapy sisetshenziswa kabanzi, kanye photocoagulation. Inzuzo enkulu yalezi izinqubo ngukutsi zikuvumela ukuthi ulondoloze umbono nesineke.

isifo Hodgkin sika

Enye ezivamile izifo kedama - a lymphoma (isifo Hodgkin sika). Izifo kuthinta kuphela izitho equkethe lymphoid. Ngakho-ke, izimpawu nobuntu iningi ke - kungcono evuvukele zamanzi. Ngokuyinhloko izinqubo sokugembula kuthinte samathumbu kanye thoracic. Ngenxa yalokho, isiguli usuke ezwa ubuhlungu esifubeni, iphika ukuhlolwa, ekhathalela ukukhwehlela futhi angafuni kudla. Ezimweni ezimbi kakhulu, lakhulisiwe lymph node bayakwazi acindezele esiswini, ngisho nokususa nezinso.

Fever, ngijuluka futhi ozwa Ukugodola njalo ahambe ukuthuthukiswa isifo Hodgkin sika.

Izizathu ezibanga izinqubo sokugembula kule lymphoid, ososayensi bathola izinto. Kukhona iziphakamiso ukuthi ukuthuthukiswa sifo iqala igciwane Epstein-Barr noma kwamaphutha mzimba.

Ukwelapha isifo Hodgkin sika waziphatha Oncology futhi Haematology. Isiguli asitholayo ultrasound futhi biopsy inqubo, CT noma i-MRI.

Uma ungenalo ukubhekana ekwelapheni izifo, ukufa kwenzeka phakathi neminyaka engu-10. Izindlela eziyinhloko yokwelashwa - useyayamukela anticancer lemithi kanye lokwelatshwa ngemisebe.

Ngakho, kukhona izifo eziningi ezingavamile. Ezinye zazo zitholakala abantu ngokuphelele kuwo wonke amazwe, futhi abanye - kuphela izifunda ethile iplanethi. ukwesekwa Medical zezimali futhi iziguli abaphethwe izifo ezingavamile, kuyingxenye uhlelo social wonke amazwe athuthukile.