Birmingham Women's and Children's Hospital, Birmingham B4 6NH, UK.
Great Ormond Street Hospital for children, NHS Foundation Trust, London WC1N 3JH, UK.
Nutrients. 2020 Oct 29;12(11):3313. doi: 10.3390/nu12113313.
Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients.
A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, dietary management and clinical outcome.
data were collected on 32 patients from 21 families. 50% were females (16/32). Median age at diagnosis was 4 y (5 days-35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICCD), eight later in childhood (FTTDCD) and 12 by family screening based on index cases from five families. No patient had adult-onset type II citrullinemia. The patient age at the time of data collection was a median of 11 y (1-44 y). 91% (29/32) of patients had normal physical and neurological development, 47% (15/32) experienced recurrent unexplained abdominal pain and 9% (3/32) episodes of hypoglycaemia. Siblings had different phenotypes (5 families had > 1 affected patient). Most patients preferred high protein foods, limiting sugar-containing foods. Only 41% (13/32) were prescribed a low CHO, high protein, high fat diet (restriction varied) and two used medium chain triglyceride (MCT) supplements. No patient was prescribed drug therapy. Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <-1 z-scores.
patients presented with various phenotypes, symptoms and suboptimal growth. Symptoms and biochemical markers improved with age, but height remained low in some. More research is necessary to assess the effectiveness of dietary approaches in improving clinical outcomes and symptoms in citrin deficiency.
关于 citrin 缺乏症的最佳饮食治疗方法知之甚少。我们的目的是描述英国 citrin 缺乏症患者的治疗方法。
进行了一项纵向回顾性研究。从病历中收集了发病时的体征和症状、饮食管理和临床结果的数据。
从 21 个家庭的 32 名患者中收集了数据。其中 50%（16/32）为女性。诊断时的中位年龄为 4 岁（5 天至 35 岁），其中 12 例在新生儿期诊断为新生儿肝内胆汁淤积症（NICCD），8 例在儿童期后期（FTTDCD），12 例通过来自五个家庭的指数病例进行家族筛查诊断。没有患者患有成年型 II 型瓜氨酸血症。数据收集时的患者年龄中位数为 11 岁（1-44 岁）。91%（29/32）的患者有正常的体格和神经发育，47%（15/32）有反复发作的不明原因腹痛，9%（3/32）有低血糖发作。兄弟姐妹有不同的表型（5 个家庭有>1 个受影响的患者）。大多数患者喜欢高蛋白食物，限制含糖食物。只有 41%（13/32）被开了低碳水化合物、高蛋白、高脂肪饮食（限制不同），2 人使用中链甘油三酯（MCT）补充剂。没有患者接受药物治疗。25%（8/32）的患者体重不足，41%（13/32）的患者身高<-1 z 分数。
患者表现出各种不同的表型、症状和生长不良。随着年龄的增长，症状和生化标志物有所改善，但一些患者的身高仍然较低。需要进一步研究以评估饮食方法在改善 citrin 缺乏症患者的临床结局和症状方面的有效性。
