Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
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208例非经典尿素周期疾病患者的横断面观察性研究。
DOI：
10.1007/s10545-013-9624-0
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发表时间：
2014-01
影响因子：
4.2
通讯作者：
Haeberle, Johannes
中科院分区：
文献类型：
--
作者：
Rueegger, Corinne M.;Lindner, Martin;Ballhausen, Diana;Baumgartner, Matthias R.;Beblo, Skadi;Das, Anibh;Gautschi, Matthias;Glahn, Esther M.;Gruenert, Sarah C.;Hennermann, Julia;Hochuli, Michel;Huemer, Martina;Karall, Daniela;Koelker, Stefan;Lachmann, Robin H.;Lotz-Havla, Amelie;Moeslinger, Dorothea;Nuoffer, Jean-Marc;Plecko, Barbara;Rutsch, Frank;Santer, Rene;Spiekerkoetter, Ute;Staufner, Christian;Stricker, Tamar;Wijburg, Frits A.;Williams, Monique;Burgard, Peter;Haeberle, Johannes
尿素循环障碍（UCDs）是一种遗传性氨解毒疾病，通常被认为主要与儿科医生有关。基于越来越多的病例研究，很明显，相当数量的UCD患者以非经典的方式受到疾病的影响：在新生儿期之外出现，病程较轻，表现出不寻常的临床特征，或无症状的患者只有UCD的生化体征。这些患者存活到青春期和成年期，使得这组疾病在临床上与成人医生和儿科医生相关。为了准备国际研讨会，我们收集了20个欧洲代谢中心参与者治疗的所有非经典ucd患者的数据。收集了208例患者的队列信息，其中50%的患者年龄≥16岁。最大的亚组（121例）有x -连锁鸟氨酸转氨基甲酰基酶缺乏症（OTCD），其中83例为女性，其中29%无症状。在指数患者中，从首次出现症状到诊断的平均延迟时间为1.6年。36%的患者存在认知障碍，包括女性OTCD患者（31%），41名患者在新生儿筛查阳性后发现症状前（12%）。总之，非典型临床表现的UCD患者需要成人医生的关注和护理，并且神经系统并发症的风险很高。为了改善UCDs的结果，卫生专业人员提高对高氨血症和UCDs的重要性的认识，并最终避免正确诊断患者的长期延误，是至关重要的。
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.
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影响因子：
9.9
作者：
HONEYCUTT, D;CALLAHAN, K;EVANS, B
通讯作者：
EVANS, B
影响因子：
1.6
作者：
Maestri, NE;Lord, C;Brusilow, SW
通讯作者：
Brusilow, SW
影响因子：
4.2
作者：
Nassogne, M;Héron, B;Saudubray, J
通讯作者：
Saudubray, J
影响因子：
158.5
作者：
MSALL, M;BATSHAW, ML;MELLITS, ED
通讯作者：
MELLITS, ED
影响因子：
3.7
作者：
Häberle J;Boddaert N;Burlina A;Chakrapani A;Dixon M;Huemer M;Karall D;Martinelli D;Crespo PS;Santer R;Servais A;Valayannopoulos V;Lindner M;Rubio V;Dionisi-Vici C
通讯作者：
Dionisi-Vici C