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Strategy for prevention of development of CTLN2 in patients with citrin deficiency

柑橘缺乏症患者预防 CTLN2 发展的策略

基本信息

批准号：
18591138
负责人：
OHURA Toshihiro
金额：
$ 1.71万
依托单位：
Tohoku University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2006
资助国家：
日本
起止时间：
2006 至 2007
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18591138/
关键词：
citrin citrullinemia SLC25A13 Newborn screening neonatal intrahepatic cholestasis NICCD CTLN2 低炭水化物食

项目摘要

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was discovered in infants having intrahepatic cholestasis with fatty liver, but then long term outcome is not dear. 1b clarify the clinical features of NICCD, we sent a detailed questionnaire to pediatricians in charge of patients with NICCD and collected data from 75 patients. Thirty of the patients were referred to hospitals before 1 month of age because of positive results in newborn screening. The other 45, the screen-negative patients, were referred to hospitals with suspected neonatal hepatitis or biliary atresia because of jaundice or discolored stool The laboratory data obtained from the patients were similar and suggested severe cholestasis and liver damage. Most of the patients were given a lactose-fiee and/or medium chain triglyceride-enriched formula and fat-soluble vitamins. Symptoms resolved mall but two of the patients by 12 months of age. The two patients with unresolved symptoms suffered from progres … More sive liver failure and underwent liver transplantation before their first birthday. Another patient developed citrudllinemia type 2 (CTLN2) at age 16. It is important to recognize that NICCD is not always a benign condition.Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In this study, we monitored the food intake of 18 Japanese citrin-deficient subjects, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower percentile distribution for carbohydrate intake relative to age- and gender-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms. Less

在患有脂肪肝的肝内胆汁淤积婴儿中发现了柑橘缺乏引起的新生儿肝内胆汁淤积（NICCD），但长期结果并不明确。 1b 明确 NICCD 的临床特征，我们向负责 NICCD 患者的儿科医生发送了详细的调查问卷，并收集了 75 名患者的数据。由于新生儿筛查结果呈阳性，其中 30 名患者在 1 个月大之前被转诊至医院。另外45名筛查阴性患者因黄疸或大便变色而被转诊至疑似新生儿肝炎或胆道闭锁的医院。从患者身上获得的实验室数据相似，提示有严重的胆汁淤积和肝损伤。大多数患者接受了不含乳糖和/或富含中链甘油三酯的配方奶粉和脂溶性维生素。其中两名患者的症状在 12 个月大时就得到了缓解。这两名症状未解决的患者患有严重肝功能衰竭，并在一岁生日前接受了肝移植。另一位患者在 16 岁时患上 2 型瓜氨酸血症 (CTLN2)。重要的是要认识到 NICCD 并不总是良性病症。CTLN2 患者的个人病史多次描述了对富含碳水化合物的食物的厌恶，饮食和治疗结果的临床观察表明，他们不寻常的食物偏好可能与其病理生理学直接相关。在这项研究中，我们监测了 18 名缺乏 citrin 的日本受试者的食物摄入量，并将其与公布的日本普通人群的数值进行了比较。我们的调查证实碳水化合物摄入量显着减少，碳水化合物在总能量摄入量（PFC 比率）中所占的比例较小，并且相对于年龄和性别匹配的对照组，碳水化合物摄入量的百分位数分布也发生了转变。这些结果强烈支持缺乏柑橘蛋白的患者避免食用富含碳水化合物的食物，这可能会导致症状恶化。较少的