Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China

Digestive and Liver Disease - Tập 41 - Trang 683-689 - 2009
Y.-Z. Song1,2, B.-X. Li1, F.-P. Chen3, S.-R. Liu4, J.-S. Sheng2, M. Ushikai2, C.-H. Zhang5, T. Zhang6, Z.-N. Wang7, K. Kobayashi2, T. Saheki2,8, X.-Y. Zheng9
1Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
2Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan
3Department of Laboratory Science, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
4Medical Imaging Center, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
5Matsumoto Institute of Life Science International, Kanazawa 921-8154, Japan
6Capital Institute of Pediatrics, Beijing 100020, China
7Department of Obstetrics and Gynecology, First Affiliated Hospital, Jinan University, Guangzhou 510630, China
8Institute for Health Sciences, Tokushima Bunri University, Tokushima, 770-8514, Japan
9Institute of Population Research, Peking University, Beijing, 100871, China

Tài liệu tham khảo

Saheki, 2002, Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD), J Hum Genet, 47, 333, 10.1007/s100380200046

Kobayashi K, Saheki T. Citrin deficiency. GeneReviews at GeneTests [www.genetests.org] Medical genetics information resource, developed at the University of Washington, Seattle. [2005. 9. 16/2008. 7. 2].

Kobayashi, 1999, The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein, Nat Genet, 22, 159, 10.1038/9667

Tazawa, 2001, Infantile cholestatic jaundice associated with adult-onset type II citrullinemia, J Pediatr, 138, 735, 10.1067/mpd.2001.113264

Tomomasa, 2001, Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy, J Pediatr, 138, 741, 10.1067/mpd.2001.113361

Ohura, 2007, Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), J Inherit Metab Dis, 30, 139, 10.1007/s10545-007-0506-1

Tabata, 2008, Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency, J Hum Genet, 53, 534, 10.1007/s10038-008-0282-2

Kobayashi, 2008, Overview of citrin deficiency: SLC25A13 mutations and the frequency, J Appl Clin Pediatr, 23, 1553

Lu, 2005, Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency, J Hum Genet, 50, 338, 10.1007/s10038-005-0262-8

Ko, 2007, Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants, J Korean Med Sci, 22, 952, 10.3346/jkms.2007.22.6.952

Ben-Shalom, 2002, Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids, Mol Genet Metab, 77, 202, 10.1016/S1096-7192(02)00167-1

Dimmock, 2007, Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet, Pediatrics, 119, e773, 10.1542/peds.2006-1950

Song, 2007, 25

Yasuda, 2000, Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia, Hum Genet, 107, 537, 10.1007/s004390000430

Yamaguchi, 2002, Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations, Hum Mutat, 19, 122, 10.1002/humu.10022

Mahajan, 2006, Endocrine regulation in asymmetric intrauterine fetal growth retardation, J Matern Fetal Neonatal Med, 19, 615, 10.1080/14767050600799901

Landmann, 2006, Ponderal index for discrimination between symmetric and asymmetric growth restriction: percentiles for neonates from 30 weeks to 43 weeks of gestation, J Matern Fetal Neonatal Med, 19, 157, 10.1080/14767050600624786

2007, 137

Zhou, 2007, Prevalence of fatty liver disease and its risk factors in the population of South China, World J Gastroenterol, 13, 6419, 10.3748/wjg.13.6419

Kim, 2008, Visceral fat thickness predicts fatty liver in Koreans with type 2 diabetes mellitus, J Korean Med Sci, 23, 256, 10.3346/jkms.2008.23.2.256

Kajiyama, 2006, Characterization of distant enhancers and promoters in the albumin-fetoprotein locus during active and silenced expression, J Biol Chem, 281, 30122, 10.1074/jbc.M603491200

Tazawa, 2005, A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency, Hepatol Res, 31, 168, 10.1016/j.hepres.2005.01.001

Saheki, 2005, Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier, Hepatol Res, 33, 181, 10.1016/j.hepres.2005.09.031

Alissa, 2008, Update on progressive familial intrahepatic cholestasis, J Pediatr Gastroenterol Nutr, 46, 241, 10.1097/MPG.0b013e3181596060

Bezerra, 2006, The next challenge in pediatric cholestasis: deciphering the pathogenesis of biliary atresia, J Pediatr Gastroenterol Nutr, 43, S23, 10.1097/01.mpg.0000228197.28056.2f

Chand, 2007, Sepsis-induced cholestasis, Hepatology, 45, 230, 10.1002/hep.21480

Pauli-Magnus, 2006, Hepatobiliary transporters and drug-induced cholestasis, Hepatology, 44, 778, 10.1002/hep.21359

Guglielmi, 2008, Cholestasis induced by total parenteral nutrition, Clin Liver Dis, 12, 97, 10.1016/j.cld.2007.11.004

Kuhara, 2002, Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography–mass spectrometry, J Chromatogr B Anal Technol Biomed Life Sci, 781, 497, 10.1016/S1570-0232(02)00670-0

Tamamori, 2004, Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency, Pediatr Res, 56, 608, 10.1203/01.PDR.0000139713.64264.BC