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

新生儿肝内胆汁淤积症（NICCD）是由Citrin缺乏引起的，在患有肝内胆汁淤积症伴脂肪肝的婴儿中发现的，但长期预后并不明确。1b明确NICCD的临床特点，对75例NICCD患儿进行详细的问卷调查。其中30名患者在1个月大之前因新生儿筛查结果呈阳性而被转诊至医院。其他45例筛查阴性患者因黄疸或粪便变色而被转诊至疑似新生儿肝炎或胆道闭锁的医院。从患者中获得的实验室数据相似，提示重度胆汁淤积和肝损伤。大多数患者给予无乳糖和/或富含中链甘油三酯的配方奶粉和脂溶性维生素。症状消退小，但两名患者的12个月大。两名症状未解决的患者患有Progress ...更多信息 严重肝功能衰竭，并在一岁生日前接受了肝移植。另一名患者在16岁时发生2型瓜氨酸血症（CTLN 2）。重要的是要认识到，NICCD并不总是一个良性的condition.Personal的历史从CTLN 2患者反复描述了一个厌恶富含碳水化合物的食物，和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直接关系到他们的病理生理。在这项研究中，我们监测了18名日本citrin缺乏症受试者的食物摄入量，并将其与日本普通人群的公布值进行了比较。我们的调查证实了碳水化合物摄入量的显着下降，这导致碳水化合物占总能量摄入量（PFC比率）的比例较小，以及碳水化合物摄入量相对于年龄和性别匹配的对照组向较低百分位数分布的转变。这些结果强烈支持柠檬酸缺乏患者避免富含碳水化合物的食物，这可能导致症状恶化。少

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