Features of liver injury in 138 Chinese patients with NICCD

Author:

Jiang MinYan1,Peng MinZhi1,Lu ZhiKun1,Shao YongXian1,Liu ZongCai1,Li XiuZhen1,Lin YunTing1,Liu Li1,Zhang Wen1,Cai YanNa1

Affiliation:

1. Department of Genetics and Endocrinology , Guangzhou Women and Children’s Medical Center , Guangzhou , P.R. China

Abstract

Abstract Objectives To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients. Methods 138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020. Base on the abnormal liver laboratory tests, we divided 138 patients into three groups: acute liver failure (ALF), liver dysfunction, and non-liver dysfunction groups, then compared their clinical, biochemical and, molecular data. Results 96 % of 138 patients had high levels of citrulline and high ratio of threonine to serine, which is the distinctive feature of plasma amino acid profile for NICCD. A total of 18.1 % of 138 patients had evidence of ALF who presented the most severity hepatic damage, 51.5 % had liver dysfunction, and the remaining 30.4 % presented mild clinical symptoms (non-liver dysfunction). In ALF group, the levels of citrulline, tyrosine, TBIL, ALP, and γ-GT was significantly elevated, and the level of ALB and Fisher ratio was pronounced low. Homozygous mutations of 1,638_1660dup, IVS6+5G.A, or IVS16ins3kb in SLC25A13 gene were only found in ALF and liver dysfunction groups. Supportive treatment including medium-chain triglyceride supplemented diet and fresh frozen plasma could be life-saving and might reverse ALF. Conclusions High level of citrulline, tyrosine, TBIL, ALP, γ-GT, and ammonia, low level of albumin, and low Fisher ratio were predictors to suggest severe liver damage in NICCD patients who may go on to develop fatal metabolic disorder. Early identification and proper therapy is particularly important for these patients.

Funder

National Natural Science Foundation of China

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference21 articles.

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3. Saheki, T, Song, YZ. Citrin deficiency. In: Adam, MP, Mirzaa, GM, Pagon, RA, Wallace, SE, Bean, LJH, Gripp, KW, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005[updated 2017 Aug 10]:1993–2023 pp.

4. Tang, CF, Liu, SC, Feng, Y, Mei, HF, Liu, HP, Feng, JW, et al.. Newborn screening program and blood amino acid profiling in early neonates with citrin deficiency. Zhonghua Er Ke Za Zhi 2019;57:797–801 [Chinese]. https://doi.org/10.3760/cma.j.issn.0578-1310.2019.10.014.

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