Esi sifo isibuko eliyimfihlakalo

Inkoliso yabantu, sithetha intliziyo, wabeka isandla kwicala lasekhohlo esifubeni. Noko ke, ngo-1643, ugqirha Italian Marco Severino wachaza ityala lokuqala embalini kwentliziyo ekunene, yaye emva kokuba echazwe eminye iminyaka engama-50 ngexesha lokuqala transposition ngokupheleleyo enyama yangaphakathi, eyaziwa ngokuba isifo njengesipili. Kulo sifo, indawo izibilini ngumfanekiso kwisipili oluqhelekileyo. Ngoko ke, intliziyo ukuba ekunene, kwakhona ijongene incam ekunene, lilungelo kunye nesisu, kodwa esinyini inyongo kunye wesibindi, phezu koko, ukuya ekhohlo. Emathunjini, igazi kunye nkovu nempahla, imithambo-luvo nawo akhe umfanekiso esipilini. Kokuba irwece esipilini syndrome yaye zibonakala macala nokukhanya: ilungelo 2 isithinzi, nangasekhohlo - 3.

Kakade ke, babe nomdla kule anomaly yokwakheka, abantu baqala ukujonga izizathu zayo. KumaXesha Aphakathi isifo isipili zibangelwa amehlo ngokulinganayo umtyholi kunye nezipho uthixo. Ku kuphela kakhulu kamva, izazinzulu ziye zafumanisa ingcaciso yale meko twisisaka , yaye ngomsonto kunye zamabanga ciliary zeDyskinesia kunye syndrome Kartagener. Ngokubanzi, isipili syndrome - isifo zemfuza determenirovannoe ezinxulumene nomsebenzi ciliary epithelium kakuhle ngenxa yesiphako morphology naso. Kule leengxaki kwenzeka zofuzo ezilawula imfuza 12 eyahlukeneyo encoder i Yindibanisela iiprothini eziyimfuneko ukwakha kunye nomsebenzi ciliary ngokuchanekileyo. Ngenxa yoko, izigulane onokugula disorder kungaPhefumli njengoko ekubhobhozeni kunzima yencindi ukusuka iphecana yokuphefumla, kwaye namadoda (ngamaxesha ambalwa abafazi) Kwakhona ubudlolo rhoqo.

Ngexesha uphuhliso osandul le umbungu intshukumo isiliya sichaza axis malunga apho abasemagunyeni tab, nangenxa, ekugqibeleni, besaphula imisebenzi isiliya zenzeka tranpozitsii. Njengawo onke ukungaqheleki yemfuza, isifo iphawulwa esipilini autosomal indlela sofuzo belifa, kodwa ngenxa yokuba rhoqo yayo liphantsi kakhulu; kuphela phakathi 1 ngo-10,000 ukuya-1 ngo-60,000.

Ngamanye amaxesha, kwiimeko ezinzima, kukho transposition engaphelelanga ngamalungu yangaphakathi: ukuba zenziwe, kodwa intliziyo ndashiyeka. Ngowe-95% amatyala, le morphology izigulane ubunzima iziphene ezahlukeneyo intliziyo naso. Ezinye iimeko, isipili syndrome, kukho ubungqina bokuba phantse akukho ngokwezenzululwazi nafuthe impilo, umgangatho kunye nobude bobomi. Kunokwenzeka ngandlel 'ithile kuphela ukusuka kwinto yokuba abantu ngokubanzi abazi yale ifitsha ethile, kodwa ngenxa yokuba xa kuthe kwakho iingxaki zempilo oogqirha kukho ebonakalayo kwi neengxaki zokuqala kwamehlo kunye uxilongo izifo.

Noko ke, kumphakamo wangoku zophuhliso amayeza iye ukuba amagqirha, ukuhlola kuphela transposition amalungu ebantwini, kodwa ukwenza uhlalutyo yemfuza ukuchonga zofuzo ezilawula imfuza target. Kodwa ngxaki inkulu enokuthi nazo abantu unesifo "isifo esibuko" - na abohlukeneyo. Ngenxa nokunqaba esi sifo, bafumane donor enokubakho kunzima, yaye ngokufuthi akubonakali kunokwenzeka.

Kubalulekile ukuphawula ukuba i-inversus sokuSebenza ifumaneka kuphela ebantwini kodwa phakathi abameli zehlabathi zezilwanyana, ezifana iinkumba. Ngoko ke, noqebeyi, njengoko umthetho, abe isinki, aphothwe ukuya ekunene, kodwa kumaza-1 ukuya 10000 - 1 ukuya 100000 ngabantu abaye isinki, aphothwe ukuya ekhohlo.

Ukongeza, isifo isipili yeyona i komhlaba kakhulu kuphuhliso kwiinkolelo. Nangona kumaXesha Aphakathi kudala bawela zisabonakala, abantu abaninzi basakholelwa ukuba sokuSebenza izigulane inversus ilifa amagunya kwemvelo, nenzululwazi esemthethweni, yena, uyaqhubeka ukufunda ngenzondelelo izinto ezibangela kuguquka ezithile ezifana zofuzo.