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| 1 | Biochemical characteristics of neonatal cholestasis induced by citrin deficiency显示文摘AIM:To explore differences in biochemical indices between neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and that with other etiologies. METHODS:Patients under 6 mo of age who were referred for investigation of conjugated hyperbiliru-binaemia from June 2003 to December 2010 were eligible for this study. After excluding diseases affecting the extrahepatic biliary system, all patients were screened for the two most common SLC25A13 mutations; the coding exons of the entire SLC25A13 gene was sequenced and Western blotting of citrin protein performed in selected cases. Patients in whom homo-zygous or compound heterozygous SLC25A13 mutation and/or absence of normal citrin protein was detected were defined as having NICCD. Cases in which no specific etiological factor could be ascertained after a com-prehensive conjugated hyperbilirubinaemia work-up were defined as idiopathic neonatal cholestasis (INC). Thirty-two NICCD patients, 250 INC patients, and 39 infants with cholangiography-confirmed biliary atresia (BA) were enrolled. Laboratory values at their first visit were abstracted from medical files and compared. RESULTS:Compared with BA and INC patients, the NICCD patients had significantly higher levels of total bile acid (TBA) [all measures are expressed as median (inter-quartile range):178.0 (111.2-236.4) μmol/L in NICCD vs 112.0 (84.9-153.9) μmol/L in BA and 103.0 (70.9-135.3) μmol/L in INC, P = 0.0001]. The NICCD patients had significantly lower direct bilirubin [D-Bil 59.6 (43.1-90.9) μmol/L in NICCD vs 134.0 (115.9-151.2) μmol/L in BA and 87.3 (63.0-123.6) μmol/L in INC, P = 0.0001]; alanine aminotransferase [ALT 34.0 (23.0-55.0) U/L in NICCD vs 108.0 (62.0-199.0) U/L in BA and 84.5 (46.0-166.0) U/L in INC, P = 0.0001]; aspartate aminotransferase [AST 74.0 (53.5-150.0) U/L in NICCD vs 153.0 (115.0-239.0) U/L in BA and 130.5 (81.0-223.0) U/L in INC, P = 0.0006]; albumin [34.9 (30.7-38.2) g/L in NICCD vs 38.4 (36.3-42.2) g/L in BA and 39.9 (37.0-42.3) g/L in INC, P = 0.0001]; glucose [3.2 (2.0-4.4) mmol/L in NICCD vs 4.1 (3.4-5.1) mmol/L in BA and 4.0 (3.4-4.6) mmol/L in INC, P = 0.0014] and total cholesterol [TCH 3.33 (2.97-4.00) mmol/L in N ICCD vs 4.57 (3.81-5.26) mmol/L in BA and 4.00 (3.24-4.74) mmol/L in INC, P = 0.0155] levels. The D-Bil to total bilirubin (T-Bil) ratio was significantly lower in NICCD patients [all measures are expressed as median (inter-quartile range):0.54 (0.40-0.74)] than that in BA patients [0.77 (0.72-0.81), P = 0.001] and that in INC patients [0.74 (0.59-0.80), P = 0.0045]. A much higher AST/ALT ratio was found in NICCD patients [2.46 (1.95-3.63)] compared to BA patients [1.38 (0.94-1.97), P = 0.0001] and INC patients [1.48 (1.10-2.26), P = 0.0001]. NICCD patients had significantly higher TBA/D-Bil ratio [3.36 (1.98-4.43) vs 0.85 (0.72-1.09) in BA patients and 1.04 (0.92-1.14) in INC patients, P = 0.0001], and TBA/TCH ratio [60.7 (32.4-70.9) vs 24.7 (19.8-30.2) in BA patients and 24.2 (21.4-26.9) in INC patients, P = 0.0001] compared to the BA and INC groups. CONCLUSION:NICCD has significantly different bio- chemical indices from BA or INC. TBA excretion in NICCD appeared to be more severely disturbed than that of bilirubin and cholesterol. | Jian-She Wang Xiao-Hong Wang Ying-Jie Zheng Hai-Yan Fu Rui Chen Yi Lu Ling-Juan Fang Takeyori Saheki Keiko Kobayashi | 2012 | World Journal of Gastroenterology2012，18，39： | 35 |
| 2 | Overview of Citrin Deficiency:SLC25A13 Mutations and the Frequency显示文摘Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major phenotypes:neonatal intrahepatic cholestatic hepatitis(NICCD)and adult-onset type Ⅱ citrullinemia(CTLN2).So far,we have identified 52 SLC25A13 mutations and diagnosed the patients not only in Japan(166 CTLN2 and 238 NICCD) but also in other countries.We have detected 76 Chinese,13 Korean and 15 Vietnamese patients with the same mutations as Japanese,and 13 patients(from Israel,UK,USA or Czech)with mutations different from those found in Japanese,indicating a wide distribution of citrin deficiency.DNA diagnoses of 13 known SLC25A13 mutations revealed that the carrier frequency was high in East Asian populations:Chinese(73/4 600=1/63),Japanese(21/1 372=1/65) and Korean(25/2 690=1/108),suggesting that near by 100 000 East Asians are homozygotes.It is important to find out patients with citrin deficiency,to treat them,and to prevent onset of severe CTLN2. | Keiko Kobayashi Miharu Ushtkai Yuan - Zong Song Hong - Zhi Gao Jian - Sheng Sheng Ayako Tabata Furnihiko Okumura Sayaka lkeda Takeyori Saheki | 2008 | 实用儿科临床杂志2008，23，20： | 26 |
| 3 | Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis显示文摘AIM: To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China. METHODS: Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze River.RESULTS: A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_17514dup17insNM_138459.3:2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, χ 2 = 4.621, P = 0.032) and the northern region (2/4, 50%, χ 2 = 8.288, P = 0.041). CONCLUSION: The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis. | Rui Chen Xiao-Hong Wang Hai-Yan Fu Shao-Ren Zhang Kuerbanjiang Abudouxikuer Takeyori Saheki Jian-She Wang | 2013 | World Journal of Gastroenterology2013，19，28： | 23 |
| 4 | Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type 1I citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) 显示文摘 | Saheki T Kobayashi K | 2002 | J Hum Genet2002，47，7： | 1 |
| 5 | Mitochondrial aspartate glutamate (citrin) deficiency as the cause of adult-onse type Ⅱ citrulinemia (CTLN2) and idiopathic neonatal hepatitis (NIECD) 显示文摘 | Saheki T Kobayashi K | 2002 | J Hum Genet2002，47，7： | 1 |
| 6 | Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice,a model of human citrin deficiency显示文摘 | Saheki T Inoue K Ono H | | 0，，04： | 1 |
| 7 | Mitochondrial aspartate glutanrate carrier (citrin) deficiency as the cause of adult-onset type Ⅱ citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) 显示文摘 | Saheki T Kobayashi K | 2002 | J Hum Genet2002，47，7： | 1 |
| 8 | Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency显示文摘 | Saheki T Iijima M Li MX | | 0，，34： | 1 |
| 9 | Molecular cloning of a cDNA coding for 70 kilodalton subunit of soluble guanylate cyclase from rat lung显示文摘 | Nakane M Saheki S Kuno T | 1988 | Biochem Biophys Res Commun1988，157，3： | 1 |
| 10 | Molecular cloning and expression of cDNAs coding for soluble guanylate cyclase frame in rat lung显示文摘 | Nakane M Arai K Saheki S | 1990 | J Biol Chem1990，265，16： | 1 |
| 11 | Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-gluta- mate carrier显示文摘 | Saheki T Kobayashi K Lijima M | 2005 | Hepatol Res2005，33，2： | 1 |
| 12 | A new approach to inhibiting astrocytic IP3-induced intracellulur calcium increase in an nstrocyte-neuron co-culture system显示文摘 | Saheki Y Li ST Matsnshita M | 2005 | Brain Res2005，1055，12： | 1 |
| 13 | Carnitine as a vitamin - like biofactor 显示文摘 | Saheki T | 1999 | Nippon - Pinsho1999，57，10： | 1 |
| 14 | Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13显示文摘 | Atsuo Kikuchi Natsuko Arai-Ichinoi Osamu Sakamoto Yoichi Matsubara Takeyori Saheki Keiko Kobayashi Toshihro Ohura Shigeo Kure | 2011 | Molecular Genetics and Metabolism2011，，4： | 1 |
| 15 | Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency显示文摘 | Ayako Tabata Jian-Sheng Sheng Miharu Ushikai Yuan-Zong Song Hong-Zhi Gao Yao-Bang Lu Fumihiko Okumura Mikio Iijima Kozo Mutoh Shosei Kishida Takeyori Saheki Keiko Kobayashi | 2008 | Journal of Human Genetics2008，，6： | 1 |
| 16 | Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia显示文摘 | Yajima Y Hirasawa T Saheki T | 1982 | Tohoku J Exp Med1982，137，2： | 1 |
| 17 | Metabolic derange- ments in deficiency of citrin, a liver - type mitochondrial aspartate - glulamate carrier显示文摘 | SAHEKI T KOBAYASHI K I1JIMA M | 2005 | Hepatol Res2005，33，2： | 1 |
| 18 | Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)显示文摘 | T. Ohura K. Kobayashi Y. Tazawa D. Abukawa O. Sakamoto S. Tsuchiya T. Saheki | 2007 | Journal of Inherited Metabolic Disease2007，，2： | 1 |
| 19 | Citrin/mitochoudrialglycerol - 3 - phosphate dehydrogenase double knock - out mice recapitulate features of human citrin deficiency 显示文摘 | SAHEKI T LIJIMA M LI M X | 2007 | J Biol Chem2007，282，25： | 1 |
| 20 | Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate–glutamate carrier显示文摘 | Takeyori Saheki Keiko Kobayashi Mikio Iijima Mitsuaki Moriyama Masahide Yazaki Yo-ichi Takei Shu-ichi Ikeda | 2005 | Hepatology Research2005，，2： | 1 |
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