Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
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DOI：
10.3390/life12111721
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发表时间：
2022-10-27
期刊：
影响因子：
--
通讯作者：
Gissen P
中科院分区：
文献类型：
--
作者：
Seker Yilmaz B;Baruteau J;Arslan N;Aydin HI;Barth M;Bozaci AE;Brassier A;Canda E;Cano A;Chronopoulou E;Connolly GM;Damaj L;Dawson C;Dobbelaere D;Douillard C;Eminoglu FT;Erdol S;Ersoy M;Fang S;Feillet F;Gokcay G;Goksoy E;Gorce M;Inci A;Kadioglu B;Kardas F;Kasapkara CS;Kilic Yildirim G;Kor D;Kose M;Marelli C;Mundy H;O'Sullivan S;Ozturk Hismi B;Ramachandran R;Roubertie A;Sanlilar M;Schiff M;Sreekantam S;Stepien KM;Uzun Unal O;Yildiz Y;Zubarioglu T;Gissen P
X连锁鸟氨酸转氨甲酰酶缺乏症（OTCD）是最常见的尿素循环缺陷。疾病的严重程度从无症状的携带者状态到严重的新生儿表现高血氨性脑病。我们审计了OTCD的诊断和管理，使用了一个在线的12个问题的调查，该调查被发送到土耳其，法国和英国的75个代谢中心。39家中心做出了回应，共报告了495例患者。共报告了208例法国患者，包括71例（34%）男性、86例（41%）有症状和51例（25%）无症状女性。85例土耳其患者包括32例（38%）男性、39例（46%）有症状和14例（16%）无症状女性。在202名英国患者中，66名（33%）为男性，83名（41%）为无症状，53名（26%）为有症状的女性。在法国、土耳其和英国，分别有19%、12%和7%的患者表现为泌尿系发病表型。呕吐、精神状态改变和脑病是这三个国家最常见的初始症状。法国有69%的人和土耳其有79%的人接受蛋白质限制，而英国有42%的人接受蛋白质限制饮食。在土耳其、法国和英国，分别有76%、47%和33%的患者接受了氨清除剂治疗。我们的审计结果强调了三个国家在表现形式和管理做法方面的异同。
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD, using an online 12-question-survey that was sent to 75 metabolic centres in Turkey, France and the UK. Thirty-nine centres responded and 495 patients were reported in total. A total of 208 French patients were reported, including 71 (34%) males, 86 (41%) symptomatic and 51 (25%) asymptomatic females. Eighty-five Turkish patients included 32 (38%) males, 39 (46%) symptomatic and 14 (16%) asymptomatic females. Out of the 202 UK patients, 66 (33%) were male, 83 (41%) asymptomatic and 53 (26%) symptomatic females. A total of 19%, 12% and 7% of the patients presented with a neonatal-onset phenotype in France, Turkey and the UK, respectively. Vomiting, altered mental status and encephalopathy were the most common initial symptoms in all three countries. While 69% in France and 79% in Turkey were receiving protein restriction, 42% were on a protein-restricted diet in the UK. A total of 76%, 47% and 33% of patients were treated with ammonia scavengers in Turkey, France and the UK, respectively. The findings of our audit emphasize the differences and similarities in manifestations and management practices in three countries.
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影响因子：
3.7
作者：
Brassier A;Gobin S;Arnoux JB;Valayannopoulos V;Habarou F;Kossorotoff M;Servais A;Barbier V;Dubois S;Touati G;Barouki R;Lesage F;Dupic L;Bonnefont JP;Ottolenghi C;De Lonlay P
通讯作者：
De Lonlay P
影响因子：
3.7
作者：
Lu D;Han F;Qiu W;Zhang H;Ye J;Liang L;Wang Y;Ji W;Zhan X;Gu X;Han L
通讯作者：
Han L
影响因子：
3.7
作者：
Laemmle A;Gallagher RC;Keogh A;Stricker T;Gautschi M;Nuoffer JM;Baumgartner MR;Häberle J
通讯作者：
Häberle J
影响因子：
3.8
作者：
Batshaw, Mark L.;Tuchman, Mendel;Summar, Marshall;Seminara, Jennifer
通讯作者：
Seminara, Jennifer
影响因子：
5.1
作者：
Gallagher, Renata C.;Lam, Christina;Wong, Derek;Cederbaum, Stephen;Sokol, Ronald J.
通讯作者：
Sokol, Ronald J.