Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age
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DOI：
10.1002/jimd.12390
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发表时间：
2021-04-22
影响因子：
4.2
通讯作者：
Kure, Shigeo
中科院分区：
文献类型：
--
作者：
Arai-Ichinoi, Natsuko;Kikuchi, Atsuo;Kure, Shigeo
Citrin缺乏症在从新生儿期到成年期的不同症状期发展。部分婴儿患者通过新生儿筛查或因瓜氨酸缺乏引起的新生儿肝内胆汁淤积症症状确诊，部分患者在儿童期可能因瓜氨酸缺乏引起的发育不良和血脂异常而发生肝病或血脂异常，部分成人在发生成人发作的2型瓜氨酸血症（CTLN 2）伴高氨血症或脑病后确诊。在严重表型CTLN 2的发展之前需要诊断，但通常难以获得，因为新生儿大规模筛查无法检测到所有Citrin缺乏症患者，并且未确诊的患者在儿童时期通常表现出健康。只有少数报告描述了儿童患者。为了探讨未确诊的儿童柠檬酸缺乏症的临床特征，我们研究了20例在出生后一年内被诊断的儿童柠檬酸缺乏症患者。在这些患者中，45%的人在儿童时期经历过低血糖发作。低血糖发作期间的乙酰乙酸水平低于预期。诊断时生长失败（45%）。根据患者的病史，确定了富含脂肪和蛋白质的食物偏好（80%），低出生体重（70%）和长期黄疸或婴儿肝病（40%）。为了诊断儿童期的柠檬酸缺乏症，我们应该询问所有患有严重低血糖或生长障碍的儿童的食物偏好和婴儿肝病史，如果患者有特征性食物偏好或婴儿肝病史，则考虑进行柠檬酸缺乏症的基因检测。
Citrin deficiency develops in different symptomatic periods from the neonatal period to adulthood. Some infantile patients are diagnosed by newborn mass screening or symptoms of neonatal intrahepatic cholestasis caused by citrin deficiency, some patients in childhood may develop hepatopathy or dyslipidemia as failure to thrive and dyslipidemia caused by citrin deficiency, and some adults are diagnosed after developing adult-onset type 2 citrullinemia (CTLN2) with hyperammonemia or encephalopathy. A diagnosis is needed before the development of severe phenotypic CTLN2 but is often difficult to obtain because newborn mass screening cannot detect all patients with citrin deficiency, and undiagnosed patients often appear healthy in childhood. There are only a few reports that have described patients in childhood. To explore the clinical features of undiagnosed patients with citrin deficiency in childhood, we studied 20 patients who were diagnosed after the first year of life. Of these patients, 45% experienced hypoglycemic attacks in childhood. The acetoacetic acid level during hypoglycemic attacks was lower than expected. Growth failure at diagnosis (45%) was also noted. From the patients' history, fat- and protein-rich food preferences (80%), a low birth weight (70%), and prolonged jaundice or infantile hepatopathy (40%) were identified. To diagnose citrin deficiency in childhood, we should ask about food preferences and a history of infantile hepatopathy for all children with severe hypoglycemia or growth failure and consider the genetic test for citrin deficiency if the patient has characteristic food preferences or a history of infantile hepatopathy.