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

点击翻译按钮获取中文摘要

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