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目的:探讨新生儿期发病的鸟氨酸氨甲酰转移酶缺陷病(OTCD)的临床特点。方法:分析我院1例新生儿OTCD的临床特点及转归,并对我国已报道病例文献进行回顾性分析。结果:OTCD病例临床罕见,缺乏家族史,已有报道女性多为迟发性,男性多为新生儿期发病,临床表现与血氨水平、酶缺陷程度有关,多以消化道和神经精神病症为主,发病越早病情越重、预后越差;急性期血氨显著增高,尿有机酸分析示乳清酸明显增高,血氨基酸分析多提示瓜氨酸降低、谷氨酸增高和鸟氨酸增高。结论:对原因不明的急、慢性脑病患者应进行血氨测定,并行血、尿质谱分析明确诊断,有条件者应行OTC基因检测及家系分析,明确突变类型。
Objective: To investigate the clinical features of ornithine carbamyl transferase deficiency (OTCD) in neonatal period. Methods: To analyze the clinical characteristics and prognosis of 1 neonatal OTCD in our hospital and to retrospectively analyze the reported cases in our country. Results: OTCD cases were rare in clinic and had no family history. It has been reported that mostly women are late-onset and mostly men are neonates. The clinical manifestations are related to the level of serum ammonia and the degree of enzyme deficiency. Most of them are gastrointestinal and neuropsychiatric disorders Lord, the onset of the disease the heavier the more the worse the prognosis; acute blood ammonia was significantly increased urinary organic acid analysis showed significantly increased orotate acid, serum amino acid analysis more tips citrulline, glutamate increased and ornithine increased . Conclusion: Blood ammonia should be measured in patients with acute and chronic encephalopathy of unknown etiology, and blood and urine mass spectrometry should be used to confirm the diagnosis. If there is a condition, OTC gene test and pedigree analysis should be conducted to identify the type of mutation.