Crigler-Najjar syndrome: incazelo, izimbangela, izimpawu kanye nokwelashwa

Izimo zethu zihluke kakhulu ezingavamile ukuzwa ngalesi sifo njengoba Crigler-Najjar syndrome. Kodwa, ngeshwa, lokhu uphethwe Ungabeka ingane one in a million. Kungase kubonakale sengathi lokhu kuyinto isifo ezingavamile kakhulu, kodwa namuhla, engu-ukuguquka kwezakhi zofuzo Kutholwe kaningi impela. Ake sibheke ukuthi lesi sifo futhi yini ukwelashwa kuleli cala.

Umlando yokutholakala

Mangisho ukuthi lesi sifo wathola muva nje, ngo-1952, ekhulwini elidlule leminyaka. Amabili wezingane, Kriegler futhi Nayyar, ukubukela izinsana okokuqala wachaza engavamile izimpawu jaundice. nezifundo kwaholela ukuhlonza zokugula kwesibindi. Ezinganeni kwathiwa kakhulu aphakeme bilirubin ngokungaqondile, okuyinto ke has umphumela enobuthi emzimbeni iyonke. Ngokusho ukuhlolwa laboratory, bilirubin senyuselwa 765 mmol / l, ngenkathi lahlala le mikhawulo kuyo yonke impilo yengane.

Ngemva kwesikhashana nozakwethu wathola izimpawu ezifanayo izingane ezindala, kodwa nge twist. Bilirubin wakhushulwa izikhathi ezingu-15 kusukela kuyinsakavukela nempilo kwehle kokuvamile. imiphumela Toxic emzimbeni wayengekho. Ngenxa yalokho lezi kokuma isifo lethiwa wamanje: Crigler-Najjar syndrome, echazwe okokuqala wenza ezimbili wezingane.

pathography

Crigler-Najjar syndrome isifo esidluliselwa ngofuzo. isifo umtholampilo lubonakaliswa jaundice acacile nokuphazamiseka okukhulu zezinzwa. Jaundice itholwa emahoreni zokuqala ngemva kokuzalwa futhi iqhubeka kukho konke ukuphila. Izilonda zenzeka ngokulinganayo abafana namantombazane ngokufanayo. Njengoba yellowness - siwukubonakaliswa izinkinga esibindini ke kwezinye iziguli umzimba luyanda ngosayizi.

Izimpawu CNS izilonda zenzeka esewusana, ngezinye izikhathi ezinsukwini zokuqala zokuphila. Basuke obonakaliswe imisipha ukungezwani, ukudikiza okungalindelekile kwamehlo, ukuma owayesekhokhoba, kanye amajaqamba. izingane athintekayo bathambekele zisale ngemuva ekuthuthukisweni ngokwengqondo nangokomzimba. Ukhomba izinhlobo ezimbili zalesi sifo. Crigler-Najjar syndrome uhlobo 1 no-2 angase abe nezimpawu ezahlukene.

Izimpawu ze-Uhlobo 1

Ngeshwa, Crigler-Najjar syndrome uhlobo 1 libhekene Yiqiniso ezithuthukayo. Izimpawu athoma ukuvela ngaphakathi amahora embalwa yokuqala yokuphila. Ingane iba yellowness evelele we abamhlophe samehlo isikhumba kuka futhi ihluke evamile jaundice emva kokubeletha. Khona-ke aluphumeleli ezinsukwini ezimbalwa, bese yengezwa izimpawu sokuwa ukunyakaza okungalindelekile lomzimba amehlo. Ngokuhamba kwesikhathi uzophawula retardation engqondo elihlobene ne bilirubin encephalopathy.

Izinkomba of bilirubin khulula nokuhlaziywa bayanda ukuba 324-528 pmol / l, eqinisweni, yilokho ngenhla evamile ezikhathini 15-50. ukudakwa cerebral kulesi simo siholela ekufeni akukholeki ukuthi ngesikhashana nje. Emacaleni angakajayeleki izingane ezinjalo elisekhona abasesikoleni.

Izimpawu ze-Type 2

Izimpawu zokuqala avele ngemva kweminyaka eminingi kwabhalwa e hlobo 1. Lesi sifo kungaba ukuzibonakalisa kuleli eminyakeni yokuqala yokuphila. Kwezinye izingane, jaundice ingekho kuze sobusha, futhi kwezinso zezinzwa awavamile. Izimpawu zifana Thayipha 1, kodwa hhayi esindayo kangaka. Bilirubin encephalopathy, zingaba khona ngemva igciwane odlule noma ukucindezeleka okunzima.

Igazi indices kwamakhemikhali ngomshini 2 lungaphezu ephansi - lizinga bilirubin mayelana 200 micromoles / ilitha. Lesi sibalo kusikisela ukuthi umsebenzi enzyme glucuronyl ngaphansi kuka-20% evamile. I Bile has bilirubin glyuguronid. Sifo "pentobarbital" omuhle.

bilirubin encephalopathy

Kuyini esabekayo syndrome Crigler-Najjar? Izimpawu zesifo avele ubuthi zobuchopho izigaba ezine. Esigabeni sokuqala ingane eziphatha evilaphayo kakhulu futhi ucobekile. Lokhu kubonakala ngendlela oncelayo abampofu, ekhululekile, impendulo abukhali kwamanye imisindo. Cry ingane ngesikhathi okuyisidina efanayo, wayevame vomits futhi kuvule ngisho ukuhlanza, amehlo akhe ezidukayo sengathi wayelahlekelwe okuthile. Ukuphefumula zingakwazi ukondleka.

Isigaba sesibili ingahlala izinsuku eziningana noma izinyanga ezimbalwa. Ingane iba imisipha esasishubile umzimba zithatha isikhundla ezingezona ezemvelo, isibambo clenched unomphela isibhakela, ngemuva kuyinto ucezu olugobile. Cry kusukela okuyisidina iba ebukhali kakhulu, walahlekelwa reflex abancela futhi asabela ngayo imisindo. Vela sokuwa snoring, nokulahlekelwa ukwazi.

Isigaba sesithathu livela isikhathi ngcono zamanga. Zonke izimpawu odlule zinyamalale isikhashana.

Isigaba sesine kwamanzi kungenzeka ngesikhathi izinyanga 5 zokuphila nokubonisa izimpawu ezisobala ka retardation ngokomzimba nangokwengqondo. Kid engabambelele ikhanda, akusho ukulandelela izinto ezinyakazayo, akasabeli izwi lomuntu esimthandayo. Waba Ukudlikizela, paresis, ukukhubazeka. Ngeshwa, ushevu izingqondo uhlobo 1 kuyashesha kakhulu, futhi yashona isakhasa.

Izimbangela zesifo

The main imbangela isifo amanga ezakhini zofuzo. Bona kwaphazamisa kumiswa enzyme ezithile obangela ukukhiqizwa bilirubin. Ngokwengxenye enkulu yalesi sifo zihlushwa labantu Asian planethi. Mutating isakhi sofuzo idluliswe i autosomal ngendlela esikhubazayo. Kulokhu, bobabili abazali ingane kungaba abathwali kuguquka, kodwa ukwenze ukuze ube nempilo enhle. Kungase kube othwala omunye abazali ke ematfuba isifo 50 ku-50%.

Ukubambezeleka isakhi sofuzo kuguquka kuholela yokuthi umzimba akuyona kuyakwazi ukubopha bilirubin ukhululekile glucuronic acid. Lokhu, kuholela yokuthi ukuthi khulula bilirubin ubuthi umzimba, engena ngokusebenzisa kusivimbeli gazi ebuchosheni, lapho izinsana angeke asebenze. Ubuthi kobuchopho bengane sika edalulwa, okuyinto aqoqana bilirubin anobuthi.

ukwelashwa

Kubantwana uxilongwe Crigler-Najjar syndrome, impatho kuhloswe kokukhipha kulo mzimba bilirubin khulula. Kubalulekile futhi ukuvimbela ukuthuthukiswa ukulimala kobuchopho anobuthi.

Ukuze ukwelashwa wasebenzisa izidakamizwa zalo ukuthi ukwandisa umsebenzi uridine diphosphate-glucuronidase enzyme, okuholela izinqubo engelapheki esibindini. Ngenxa yale njongo "Phenobarbital" ngemithamo kuze 5 mg amakhilogramu esisindo ngamunye ngosuku. Kufanele kuqashelwe ukuthi kuba nemiphumela emihle kuphela Crigler-Najjar syndrome uhlobo 2. Lapho omunye uhlobo umzimba ukuba "Phenobarbital" cishe akasabeli.

Kuzo zombili izinhlobo zezifo phototherapy sessions aphethwe, langena yi-plasma, futhi exchange igazi. Zonke izindlela zokwelapha uzilungiselele ukuqinisekisa ukuthi enze bafakelwa isibindi - izingane nge Uhlobo 1 ithuba eyasinda.

ukuhlola

Kuze kube manje, imithi okwaziyo ukunquma izimbangela zezifo ezifana Crigler-Najjar syndrome. Izimpawu kanye zokwelapha bachazwa isikhathi eside, kodwa manje ngosizo ukuhlolwa DNA lingamumatha predefine yofuzo sifo ngisho utero. Emva kokuzalwa kwengane yakho ukuhlola DNA anikeze impendulo eqondile ukuthi zikhona kuyisimo kuguquka sofuzo esithile.

Futhi zama ukwenza uma ethuthukisa jaundice nge "phenobarbital." Umphumela ukuhlaziywa kubonisa uhlobo lwesifo.

Uma usola i Crigler-Najjar syndrome, abazali uya umlando kwenziwe ukuhlolwa DNA ukuqinisekisa uphethwe.

ekuvimbeleni izifo

Izinyathelo kule syndrome ka Crigler-Najjar aqukethe ekuvimbeleni okuvela ukuxakeka.

Lapho syndrome uhlobo mina kubaluleke kakhulu ukuvimbela ukuthuthukiswa bilirubin encephalopathy, ngoba yilokho-ke kuholela ukufa kwanoma isiguli.

Lesi sifo-type II zokuvimbela kunciphisa ukwazisa isiguli izimo kungabangela okubi kakhulu lesi sifo. Lokhu okungukuthi kuyinkimbinkimbi izifo, ukuzikhandla ngokweqile, ukukhulelwa, ukwamukelwa utshwala nezidakamizwa ngaphandle ukulawula ukuya kudokotela. Konke lokhu kungabangela ukwanda bilirubin egazini futhi kuholele ukudakwa ezinzima. Kulesi sihloko, akunakwenzeka ukuchaza zonke izimo, ngoba Crigler-Najjar syndrome (impatho, izimbangela, izimpawu zazo kubhekwe yithi) kungavuka izingane ngamunye.