Xeroderma pigmentosum: oonobangela, iimpawu, inkcazo kunye neempawu zonyango

Namhlanje, imbonakalo yomntu idlala indima ebalulekileyo. Kodwa ke, ngelishwa, yenzeka ukuba ngamanye amaxesha umzimba akaphumeleli, yaye into umzimba uqala ukusebenza ngokupheleleyo njengoko kufuneka. Yiyo lo mba, nto leyo echaphazela inkangeleko yomntu xeroderma pigmentosum. Yintoni na le sifo yaye bonke ebalulekileyo malunga nesifo - oku yaye ziya kuqhubeka ngayo.

lwesigama

Ekuqaleni, kufuneka siqonde ukuba yintoni na. Ngoko ke, xeroderma pigmentosum - sisifo eluswini, leyo ilifa. Kulo mzekelo, isikhumba yabantu hypersensitive elangeni. Ngokuphathelele oku, imeko yangoku isigulana idla ugqirha ekuthiwa precancerous. Ukuba sithethe ngokwalo zonyango, le emoyeni - yinto autosomal retsesivnoe isifo DNA xa iiseli bona abakwazi ukulungisa izikhewu okanye amakhefu iimolekyuli.

Yintoni enye kufuneka ukwazi uxilongo "xeroderma pigmentosum"? mode abalilifa kuye, njengoko kutshiwo ngasentla, retsesivny autosomal. Noko ke, izazinzulu qaphela ukuba abe autosomal lubalaseleyo, kodwa ngokuyinxenye ezinxulumene zofuzo ngesondo.

Ezinye izibalo kunye neempawu

Ukuba sithetha kumazwe, xeroderma pigmentosum wafumana omnye umntu abemi abazizigidi 1 nganye. Nangona kunjalo, e China i-nani kakhulu aphezulu - 1 isigulane abemi 100 amawaka nganye. Abaphandi baphawula ukuba olu hlobo sifo sizibonakalisa ikakhulu uluntu oluphila luzivalelele, amaqela, ebizwa ngokuba yi-Ozahlulayo, ezenziwa iinkolelo ezizodwa (umzekelo, uluntu zonqulo). Kwakhona, le ngxaki ilifa kwaye udlule umzali emntwaneni. Oogqirha bathi oku sifo futhi ivame kwenzeka kwimeko kwimitshato izalamane zegazi.

Inkangeleko sifo

Yintoni xeroderma pigmentosum? Eluswini umntu asondeze nombala okhethekileyo. Oku konke kwenzeka ngenxa yokuvela kwemitha yelanga eluswini umguli. Kodwa ukuba umsebenzi ethile iienzymes okunempilo ethintela kukuvela data amabala, kwezi zigulane, kungenjalo esebenzayo. Zonke nandzu - yemfuza e ziiproteni zinoxanduva sokubuyisela inyama emva futhe. iiseli Mutated ngokuthe yande emzimbeni, nto leyo ebangela umhlaza esikhumbeni. Ngaphandle ultraviolet radiation, kufanele kuqatshelwe, isikhumba isigulana kwakhona kakhulu ingqalelo radiology kunye (ionizing) abuya.

Malunga iintlobo zezifo

Nam ndingathanda ukuqaphela ukuba kukho iintlobo ezahlukileyo xeroderma pigmentosum. Zizonke ezisixhenxe ekwanti, yaye zahluke oonobumba: A, B, C, D, E, F, G. nganye yeentlobo data onikwe isakhi ethile njengesi. Ngokukodwa njengoko ezi yantlukwano nangoku efundwayo zizazinzulu. Ngaphezu ukwaba uhlobo wesibhozo - pigmentosa kserodermoid Jung. Noko ke, ndimele ndithi ukuba kule meko siphene lokuqala kwaye ayaziwa.

symptomatology

Ndimele ndithi ukuba ukuzalwa yesikhumba xeroderma pigmentosum akukho sifo. Iintsana zizalwa eqhelekileyo, akukho ezibonisa zongezelelweyo apha esikhumbeni. Iimpawu luqala ukuba kwenzeka emhlabeni ngexesha leenyanga ezi-3 - kwiminyaka emi-3 ubudala, kodwa kusenokwenzeka kwaye ngaphambili okanye emva ukuqala inkqubo, kuxhomekeka amandla ngenxa yelanga. Iimpawu zokuqala, nto leyo azibonakalisa abantwana:

• amehlo alilayo;
• photophobia;
• conjunctivitis kunokwenzeka;
• esi sifo kunokuzibonakalisa photodermatitis.

Emzimbeni somntwana kukho amabala ezifana abamenzelayo okanye amabala. Ngokuthe ngcembe, inani labo liyanda. Oku kungenxa iinkqubo ukuphazamiseka nombala. Ezinye iimpawu, nto leyo ke kuqala ukuvela:

1. Telangiectasia, okt impahla yesikhumba zithambe.
2. Kwakhona kuba hyperkeratosis, xa iiseli mabayahlule ngokukhawuleza kakhulu, kwaye iinkqubo desquamation elinganeno. Ngenxa yoko, kunokwenzeka ulusu actinic.
3. Ukwanda kome ulusu.

picture clinical

Solusu genetic izifo ezo zifo: xeroderma pigmentosum, melasma reticular ende, Peak melasma ukuba, enyanisweni, esi sifo. Lo mfanekiso kwezonyango yohlulwe ngokwendidi ezintathu eziphambili:

1. Arhabaxa. On yomzimba kuvela amabala ezifana amabala. Ngokuthe ngcembe kukho esikalini, ezifana lentigo.
2. sigaba Giperkeraticheskaya. Kwi esikhumba khosi kwakheka nemisele uluhlu amabala, kukubola, uhlobo lentigo iziqalelo. Yonke ukhumbuza umfanekiso dermatitis radiation ezigulo ezondeleyo. Maxa wambi kusenokubakho imfundo amade. Zonke ezi nguqu atrophic ngcembe deplete impumlo hryaschik, iindlebe, orifices zendalo ukuze zikhubazekile. Kwakhona ngeli nqanaba yimpandla kunokwenzeka, ilahleko ngeenkophe. Le inwebu ube lisibekele, kukho photophobia, kunye lacrimation.
3. Kwinqanaba lokugqibela ingxaki somhlaza lo uya kude. Kwi isikhumba kukho zombini nangezilonda ebubonisayo nesibuhlungu.

features lwezempilo

Malunga omnye izigulane ezintlanu kunye lokufunyaniswa ukungaqheleki luvo zikhona. Ngamana kuba ukukhubazeka engqondweni, areflexia (akukho ukukhanya). Kukwabalulekile ukuqaphela ukuba xeroderma pigmentosum badla izaliswe izifo ezifana:

• UReed engqondweni, xa sehlise phantsi ukukhula amathambo, yaba lukakayi lifinyele, kukho ukulibaziseka yophuhliso ngokwasemzimbeni nangokwasengqondweni.
• Syndrome De Sanctis-Kakkone xa nezitenxo kwinkqubo luvo walibonakalisa kunye ekubonakalisweni ngesikhumba.

Izinto ezibangela izifo

Into ekufuneka uyazi ngengxaki efana xeroderma pigmentosum? Ebangela, iimpawu zesi sifo? Ukuba zokubonisa isifo onke acacile; ngoko ke ixesha ukufumana ukuba yintoni kanye ichukumisa inkangeleko yayo. Njengoko libonakele, kuba isakhi ukuguquka okhethekileyo, xa ngumtyholwa yinto gene autosomal nje ocande kubazali. Kwakhona kwizisele isigulane ningaswele UV-endonuclease enzyme inokuba RNA polymerase intswelo. Abaphandi kwakhona bathi unobangela ngezifo inokuba ukwanda okusingqongileyo yabantu porphyrins enzayim ezikhethekileyo yendalo, nto leyo echaphazela kakubi esikhumbeni.

ekuxilongweni

Ukubaluleka xeroderma pigmentosum kuba namhlanje kakhulu eliphezulu. Ngapha koko, abantu abaninzi bazama ukuya ilanga kaninzi, akukho ukoyika sesichengeni UV eyingozi. Kwaye yinto engalunganga. Nokuba indoda ayikho asongele esi sifo, isikhumba kungcono ukuveza kancinane yemisebe esebenzayo elanga. Kwenzeka njani ukuba ukufumanisa kwesi sifo?

• Ukuhlolisisa kwesikhumba usebenzisa monochromator, isixhobo okhethekileyo, nto leyo ebonisa izinga nobuntununtunu nesikhumba.
• Inyathelo elilandelayo - a biopsy. Kulo mzekelo, amasuntswana ziphandwa yamathumba eluswini lomguli.
• Iisampulu zeethishu athathwa ngexesha histologically biopsy uphando.

imiba unyango

Ukuba isigulana une unyango "xeroderma pigmentosum" ze isigulane - oku kubaluleke kakhulu. Ngokomzekelo, umntu kufuneka ulandele ngqo imiyalelo kagqirha:

• Kufuneka utyelele wesikhumba.
• Kumanqanaba okuqala ngokubonakalayo antimalarials (umz, "delagil" okanye "Rezohin") apho ukunciphisa uvakalelo ulusu nokukhanya.
• Kunyanzelekile ukuba vitamin ukuxhasa umzimba. Kwimeko enjalo kuyimfuneko ukuba nicotinic acid (vitamin PP), retinol (vitamin A oku), kwakunye iivithamini entsonkothileyo group B.
• Ukuba ishq ulusu enamaxolo esiyiyo, kufuneka siqwalaselwe namafutha aqholiweyo, ezo corticosteroids khona ezisekelwe.
• Ukuba kukho iintsumpa kakhulu eluswini, kufuneka ufake isicelo neoli kunye cytostatics, umsebenzi ophambili - ukuthintela hlula cell ngakumbi.
• Maxa wambi, izigulane kufuneka asele antihistamines, ngamanye amazwi, arhente antiallergic, umzekelo, "Tavegil" okanye "Suprastin" okanye desensitizing nezenzi ukuphuphumala negazi lakho.
• Engaba nefuthe esebenzayo eluswini umguli, umz, ehlotyeni, isigulane emiselweyo izithambiso UV okubakhusela okanye mixube.
• Ukuba kukho isoyikiso ukuyilwa yamathumba, isigulane kufuneka abhaliswe nje kuphela somdlavuza, kodwa ngamaxesha athile kuhlola iqela nezinye iingcali: wesikhumba, zamehlo kunye luvo.
• Neoplasms esikhumba, nkqu amade, ukuba yasuswa intsumpa.