Xeroderma pigmentosum: haddasawa, cututtuka, description da halaye na magani

Yau, wani mutum ta bayyanar taka muhimmiyar rawa. Amma, abin takaici, shi ya faru da cewa wani lokacin jiki ta kasa, da kuma wani abu a cikin jiki fara aiki gaba daya kamar yadda ya kamata. Yana da wannan batun, wanda rinjayar da wani mutum ta bayyanar shi ne xeroderma pigmentosum. Menene wannan cuta da kuma duk da irin wannan muhimmanci game da cutar - wannan shi ne, kuma zai ci gaba da shi.

terminology

Da farko, dole ne mu gane abin da shi ne. Saboda haka, xeroderma pigmentosum - wata cuta daga cikin fata, wanda shi ne hereditary. A wannan yanayin, mutum fata ne hypersensitive zuwa ga hasken rana. A dangane da wannan, yanzu yanayin haƙuri shi ne sau da yawa likita ya kira precancerous. Idan muka yi magana a likita sharuddan, wannan Pathology - shi ne wani autosomal cuta retsesivnoe DNA idan Kwayoyin kansu ba zai iya gyara gibba ko karya a cikin kwayoyin.

Me kuma kana bukatar ka sani game da ganewar asali "xeroderma pigmentosum"? yanayin gado, kamar yadda aka ce a sama, autosomal retsesivny. Duk da haka, masana kimiyya lura cewa zai iya zama autosomal rinjaye, amma kuma jera nasaba da jima'i chromosomes.

Wasu statistics da kuma halaye

Idan muka magana game da raya ƙasashe, xeroderma pigmentosum sami mutum daya da miliyan 1 da mazaunanta. Duk da haka, a kasar Sin adadi ne yafi hakan - 1 haƙuri da dubu 100 mazaunan. The masu bincike kuma nuna cewa wannan nau'i na cutar halin da yafi ga gated al'ummomi, kungiyoyi, da ake kira na ware, kafa ta musamman imani (misali, addini al'ummomi). Har ila yau, wannan matsala ne hereditary da aka wuce daga iyaye zuwa yaro. Likitoci suka ce cewa wannan cuta ne ma sau da yawa yakan faru a cikin yanayin na aure na kusa jini dangi.

A bayyanar da cutar

Mene ne xeroderma pigmentosum? A fata na da wani mutum gabatar na musamman pigmentation. Wannan duk ya faru a sakamakon daukan hotuna zuwa ultraviolet radiation a kan fata na haƙuri. Amma idan wani lafiya aikin takamaiman enzymes cewa hana abin da ya faru na spots data, a cikin wadannan marasa lafiya, ba su da aiki. Duk da laifi - maye gurbi a cikin sunadaran da suke da alhakin nama dawo bayan irin wannan tasiri. Mutated Kwayoyin hankali tara a cikin jiki, wanda results a cikin fata ciwon daji. Bayan ultraviolet radiation, ya kamata a lura, fata na haƙuri ne kuma quite kula radiological kuma (ionizing) radiation.

Game da iri cututtuka

Ina kuma so a lura da cewa akwai daban-daban na xeroderma pigmentosum. A guda bakwai da ya zama ruwan dare, kuma suka sãɓã wa jũna letters: A, B, C, D, E, F, G. Kowace daga cikin bayanai iri sanya wani musamman mutant gene. Musamman kamar yadda wadannan bambance-bambance har yanzu ana karatu da masana kimiyya. Bugu da ƙari ware na takwas irin - pigmentosa kserodermoid Jung. Duk da haka, dole ne in ce cewa a cikin wannan harka ta farko aibi da ba a sani.

symptomatology

Dole ne in ce cewa a cikin haihuwa na xeroderma pigmentosum fata ne ba kamu. Babies aka haife al'ada, babu wani karin bayyananen a kan fata. A farko bayyanar cututtuka fara faruwa a kusa da lokaci na watanni 3 - 3 years old, amma yana yiwuwa da kuma a baya ko kuma daga baya a fara da tsari, dangane da iko na ultraviolet radiation. A farko bayyanar cututtuka, wanda bayyana kansu a cikin yara:

• na ruwa idanu.
• photophobia.
• zai yiwu conjunctivitis.
• cutar na iya bayyana kanta photodermatitis.

A kan yaro ta jiki akwai spots kamar moles ko freckles. A hankali, su yawan qara. Wannan shi ne saboda pigmentation cuta tafiyar matakai. Sauran cututtuka, wanda sai fara bayyana:

1. Telangiectasia, watau fata tasoshin dilate.
2. Yana kuma iya zama hyperkeratosis, idan Kwayoyin raba sosai da sauri, da kuma matakai na desquamation hana. Saboda haka, shi na iya faruwa actinic fata.
3. Ne ta ƙara rashin ruwa da fata.

asibiti hoto

By kayyade fata cututtuka su ne wadanda cututtuka: xeroderma pigmentosum, reticular m melasma, melasma ganiya cewa, a gaskiya, shi ne guda cuta. The asibiti hoto ne zuwa kashi uku main iri:

1. Kumburi. A fallasa fata bayyana spots kamar freckles. A hankali akwai Sikeli, kama lentigo.
2. Giperkeraticheskaya mataki. A fata ne alternately kafa tun fil azal na gungu na freckles, flakes, lentigo irin abubuwa. Duk abin tunatar hoto na kullum radiation dermatitis. Wani lokaci akwai iya zama warty ilimi. Duk wadannan atrophic canje-canje a hankali deplete hryaschik hanci, kunnuwa, halitta orifices iya maras kyau. Har ila yau, a wannan mataki shi ne zai yiwu baldness, asarar gashin idanu. A cornea iya zama hadari, akwai photophobia, kuma lacrimation.
3. A karshe mataki na ciwon daji matsalar da ke kasashen waje. A fata akwai biyu benign da kuma m siffofin maruran.

neurological siffofin

Game da daya a biyar marasa lafiya tare da ganewar asali neurological munanan an kiyaye. Iya zama shafi tunanin mutum retardation, areflexia (babu tunani). Yana da muhimmanci a lura da cewa xeroderma pigmentosum sau da yawa fraught tare da irin cututtuka:

• Reed ta ciwo, lokacin da slowing saukar da ci gaban da kwarangwal, da kwanyar da aka rage, akwai wani bata lokaci ba jiki da hankulansu ci gaba.
• Syndrome De Sanctis-Kakkone lokacin da tafka magudi a tsakiya m tsarin bayyana tare da fata manifestations.

A Sanadin cutar

Me kana bukatar ka sani game da irin wannan matsalar kamar yadda xeroderma pigmentosum? Haddasawa, bayyanar cututtuka da cutar? Idan bayyananen cuta duk bayyanannu, to, shi ne lokacin da za a gano abin da daidai triggers ta bayyanar. Kamar yadda ta bayyana, shi ne na musamman gene maye gurbi, a lokacin da m ne autosomal gene cewa an shige daga iyaye. Har ila yau, a haƙuri Kwayoyin rasa UV-endonuclease enzyme iya zama RNA polymerase rashi. The masu bincike kuma ce cewa dalilin da Pathology iya zama da karuwa a cikin adam yanayi porphyrins musamman na halitta enzymes, wanda adversely shafi fata.

bincikowa da

A munasaba na xeroderma pigmentosum for yau ne quite high. Bayan duk, kuma da mutane na kokarin je ga rãnã, mafi sau da yawa shi ne, ba tsoro na daukan hotuna zuwa UV haskoki. Kuma yana da ba daidai ba. Ko da idan wani mutum da ba ya barazana ga cuta, fata ne mafi kyau ga minimally bijirar da aiki da hasken rana radiation. Ta yaya ne zai yiwu don gane da wannan cuta?

• jarrabawa na fata ta amfani da wani monochromator, musamman kayan aiki, wanda kayyade matakin na ji na ƙwarai daga fata.
• A mataki na gaba - a biopsy. A wannan yanayin, da barbashi an bincika marurai a kan fata na haƙuri.
• Nama samfurori da aka dauka a lokacin biopsy histologically bincika.

magani al'amurran da suka shafi

Idan wani m kamu da "xeroderma pigmentosum" jiyya na haƙuri - wannan yana da muhimmanci ƙwarai. Alal misali, wani mutum zai yi tsananin bi umarnin likita:

• Kana bukatar ka ziyarci wani likitan fata.
• A farkon matakai rayayye amfani antimalarials (msl, "delagil" ko "Rezohin") wanda rage ji na ƙwarai daga fata ga haske.
• Shi ne wajibi a yi bitamin su goyi bayan jiki. A irin wannan yanayi wajibi ne a dauki nicotinic acid (bitamin PP), retinol (bitamin A da shi), kazalika da hadaddun bitamin na kungiyar B.
• Idan fata scaly flakes aka kafa, suka dole ne a sarrafa man shafawa, wadda ake bisa akwai corticosteroids.
• Idan akwai warts a kan fata, dole ka yi amfani da man ƙanshi da cytostatics, babban aiki - su hana kara cell division.
• Lokaci-lokaci, marasa lafiya dole ne sha antihistamines, a cikin wasu kalmomi, antiallergic jamiái, misali, "Tavegil" ko "Suprastin" ko desensitizing jamiái cewa attenuate rashin lafiyan halayen.
• Tare da wani aiki a kan sakamako fata na haƙuri, msl, a lokacin rani, da mãsu haƙuri An wajabta m UV creams ko sprays.
• Idan akwai wata barazana ga samuwar marurai, da mãsu haƙuri dole ne a rajista ba kawai a cikin oncologist, amma kuma lokaci-lokaci binciki wani rukuni na sauran kwararru: likitan fata, wani ophthalmologist da wani neurologist.
• Neoplasms na fata, ko warty, to za a iya cire surgically.