Syndrome Bloom esithi: Oonobangela, Iimpawu and Treatment

Bloom syndrome - isifo esinqabileyo awazalwa enaso, apho iiseli yabantu ukubonisa ukungazinzi lofuzo. Oku njengelifa ngendlela sofuzo autosomal.

Ukophulwa abasanda sifo yaye Zichazwe ngumyalelo imvelaphi wesikhumba American Devid Blum ngo-1954. Egameni le-nzulu yaye igama sifo. Ntonye - bekhubazekile teleangiektaticheskaya erythema.

Bloom engqondweni kakhulu ngokuqhelekileyo kuchaphazela abantu yobuzwe yamaYuda (1 out of 100). Esi sifo kuba bobabini abasetyhini kunye namadoda, kodwa iimpawu zokugqibela ucaca ngakumbi. Le nto amabhinqa ngesi sifo zidla kuchazwe kakuhle.

Umntwana lowo ogulayo syndrome Bloom, bobabini abazali abathwali ziye esafukamileyo afika kwenye allele zofuzo BLM. Kuthathwa ukuba ezahlukeneyo iimpawu kuxhomekeke kuhlobo uguquko ekhoyo ezilawula imfuza yesigulana. Nangona kunjalo, oku alikafiki aqinisekisiweyo.

picture clinical

Izigulane syndrome Bloom apha Ukuzalwa akathetheleleki (malunga nama-1900-2000 g). Kwixesha elizayo, ukuba nazo zikhula kade kwaye kakubi ukuzuza ubunzima. Mbile ilibele, kwaye nokuba Ezingxingweni, kokuba ayilunganga. Ngabantu, ukungachumi kuqhelekile, nabafazi - ngokungaqhelekanga ukuya exesheni ekuqaleni. Ngaphandle koku, uphuhliso yengqondo yabo ihambelana nemigangatho ubudala.

Kwiiveki zokuqala wobomi izigulane phezu izidlele, iindlebe, impumlo kunye umva kwezandla kukho bubbles, erythema kunye noqweqwe. apho kaninzi lwakukhula uvakalelo ukukhanya UV. Nkqu izigulane ezimfutshane iziphumo phantsi kwelanga kungakhokelela ekwakhiweni womnatha semithambo kunye umonakalo eluswini ezahlukahlukeneyo ubungnqongqo. Emva ukufunyanwa ulusu zokhanyo ukuze ube amabala ezimnyama kakhulu okanye eqaqambileyo, iindawo kunye yoma.

Izigulane kufuneka ukuncipha sifo yaye ngoko esoloko ijongana kunye nezifo ezosulelayo, nayo leyo ziphinde zenzeke.

Bloom syndrome unxulunyaniswa kunye asymmetry ke ezintanyeni ithambo ethangeni kunye nesifo sentliziyo naso.

ukubonakala

Imbonakalo iziguli okungaqhelekanga. Bathi yokakayi kunokuba emxinwa, isilevu encinane kunye nempumlo abadumileyo ( "ubuso intaka"). Oku kubonakala kakhulu xa ukhangela i Ifoto Bloom syndrome.

Izigulane ngokuqhelekileyo yokukhula, yiba ngelizwi eliphezulu. Kwezinye izigulane, kukho unyawo sengozini ezingaqhelekanga kwamazinyo. Izigulane badla ezikhala nangokurhala, ukudumba komlomo, ukuhluba kubo. Kwezinye iimeko, kukho kukuthi waphula inkqubo keratinization ulusu kunye yayo ukuvaleka (kufana "washington").

ekuxilongweni

Uxilongo "Bloom Syndrome" ubeka ugqirha, esekelwe kumfanekiso bezonyango belo data kunye elabhoratri iziphumo zonyango yesigulana.

On zoviwo eziyimfuneko ukuvavanya ubume kwamajoni omzimba. Xa ucalulo izigulane Bloom engqondweni into ukuncitshiswa ngokuqaphelekayo kwimali immunoglobulin ne T-lymphocyte. Ukongeza, kucetyiswa ukuba ukuvavanya ukwanana udade chromatid.

Xa uphethwe Kubalulekile ukuba siphambanise ne Bloom syndrome lupus zomzimba syndrome Nile-Dingwall syndrome Rotmunda-Thomson kunye porphyria cutaneous.

Oncology

okukwazi Low kwaye kukho inani elikhulu izakhi ezahlukeneyo ezikhokelela yokuba isigulane kunyusa amathuba somhlaza. Ahlukunyezwe okufanayo ngexesha kunokuba ngaphakathi izibilini negazi, nkovu, ithambo kwithishyu.

Eyona ezimbi zixhaphakileyo kwenzeka kwezi zigulane, zezi:

• leukemia myeloid;
• lymphoma;
• leukemia lymphocytic;
• yamathumba amabi, le kuvuleke iminxunya, ulwimi kunye namathumbu;
• umhlaza wemiphunga;
• carcinoma zamabele.

Kakhulu okuba ukuba unesifo medulloblastoma kunye nomhlaza kwezintso.

unyango

Isigulana ukuhlupheka Bloom syndrome, unyango iya kuba nomqondiso. Ukunciphisa ubungqongqo neziphumo ezibi aokusetyenziswa ngoncedo kweziyobisi kunye neenkqubo zonyango. ekukhetheni senziwa igqirha kuzo ngokusekelwe koko mpawu lokuphazamisa isigulane. Ngokomzekelo, xa Oncology kusenokufuneka ichemotherapy, therapy radiation okanye uqhaqho, xa izifo amazinyo -. Iinkqubo lwamazinyo, njalo njalo D. ukuzinyanga ngokupheleleyo ngezifo ayikho okwangoku kunokwenzeka.

Enoba kwakuyintoni na, izigulane kufuneka asebenzise rhoqo iindlela ngokuthembekileyo ukukhusela ulusu kwimitha yelanga, ukusetyenziswa mzimba nezimbiwa (kufuneka babe yinxalenye vitamin E), carotenoids (ezinje ngohlobo kwezithako ukutya, kunye nokutya) kunye namayeza, umsebenzi yokulungisa amajoni omzimba. Kwezinye iimeko, ukuze aqhube unyango hormone.

Izigulane ezisanda syndrome Bloom ubomi kufuneka lubonwe ngu wesikhumba kunye somdlavuza wazi ekuqaleni imiqondiso yesikhumba zomhlaza. Ukuba kukho naluphi na utshintsho basole kufuneka kweli xesha lifutshane kangangoko ukubona ugqirha.

Izigulane, phezu umzimba apho eninzi abamenzelayo, kubalulekile ukuba emthunzini kwaye kuthintele kwelanga ngqo, anxibe iingubo kangangoko kunokwenzeka ngokufihla umzimba.

Outlook

I-ALS kwizigulane kunye Bloom engqondweni kuxhomekeke kuhlobo iimeko zophendlo lwezifo lokuhamba nabo. Kaninzi, izigulane kufa ngenxa yeenkqubo zosulele oncological okanye inyumoniya.

Kufuneka kuqatshelwe ukuba izigulane abo unyango kwangumqondiso kwaye phantsi kweliso gqirha, abe iminyaka enkulu ubomi kuthelekiswa nabo izigulane musa.

ukuvimbela

syndrome Prevention Bloom xa abantwana baya kuba ekuphepheni umtshato kunye nezizalwane. Ngayo phakathi kweentlanga, xa isithethe apho imitshato enxulumene ngokusondeleyo, esi sifo yasasazeka rhoqo.

Ukongeza, esi sibini ngaphambi kokuba akheke Kucetyiswa ukuba bangenele uviwo ngugqirha ngokucokisekileyo.