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Table of Content
15 December 2016 Volume 34 Issue 12
Changes of adrenal cortical function in children with growth hormone deficiency before and after treatment with recombinant human growth hormone
WANG Limin,ZHAO Yiming,LYU Xiumin,LI Guimei
. 2016, 34(12): 881. doi:
10.3969/j.issn.1000-3606.2016.12.001
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Objective To observe the changes of adrenal cortical function in children with growth hormone deficiency before and after treatment with recombinant human growth hormone. Methods Seventy-two children diagnosed with GHD who received rhGH treatment for no less than 6 month were included, among whom there were 32 children who were accompanied with adrenal cortical hormone (ACTH) deficiency. The changes of fasting plasma cortisol (COR) and ACTH levels before and 3 and 6 months after treatment with rhGH were retrospectively analyzed. Results Thirty-two children with ACTH deficiency were treated with rhGH after COR level reached normal by the supplementing exogenous hydrocortisone. There was negative correlation between COR level before treatment and the HC dose that make the COR reach normal lowest limit level (r?=?-0.899, P?0.01). One month after HC treatment only, the level of COR was obviously increased and ACTH was obviously decreased (P all?0.001). The levels of COR or ACTH at 3 or 6 months after rhGH and HC replacement therapy were not different from those at one month after HC treatment only (P all?>?0.05). The level of COR was obviously decreased after treatment with rhGH, and there was statistical difference compared with that before treatment (P?0.01) in 40 children without ACTH deficiency, among whom 10 children with abnormal hypothalamic pituitary MRI had lower level of COR. Conclusion Adrenal cortical function can be reduced during the treatment with rhGH in children with GHD, especially in children with abnormal hypophysis MRI. Thus, during the treatment period, adrenal cortical function should be monitored, so as to make early intervention.
The correlation between phenotype and genotype of 5 α-reductase 2 deficiency in 5 children
DING Yu, WANG Jian, LI Juan, CHENG Qing, LI Xin, WANG Xiumin, HUANG Xiaodong, SHEN Yiping, SHEN Yongnian
. 2016, 34(12): 886. doi:
10.3969/j.issn.1000-3606.2016.12.002
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Objective To explore the correlation between phenotype and genotype of 5 α-reductase 2 deficiency. Methods The clinical data of five children with 5 α-reductase 2 deficiency were retrospectively analyzed and the relation between their clinical phenotype and genotype were analyzed. Results All of these five children presented small penis and testicular hypoplasia, three of whom had ones similar to the clitoris appearance. The testosterone/dihydrotestosterone (T/DHT) ratio was 10.26-64.99 after human chorionic gonadotropin (hCG) stimulation. Gene detection showed one case had c.680G > A homozygous mutation and the others were compound heterozygous mutations. The mutations were mainly missense mutations, followed by deletion, duplication and nonsense mutations. Conclusion The 5 α-reductase 2 deficiency has different degrees of abnormal genital development. Genetic testing contributed to the diagnosis of this disease.
Utilization of furosemide/hydrochlorothiazide load test in differential diagnosis of Bartter syndrome from Gitelman syndrome in children
ZHANG Jun, CHEN Qiuli, LI Yanhong, DU Minlian, MA Huamei, CHEN Hongshan, GUO Song
. 2016, 34(12): 891. doi:
10.3969/j.issn.1000-3606.2016.12.003
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Objective To explore the application of furosemide/hydrochlorothiazide load test in clinical classification of Bartter syndrome and Gitelman syndrome and the significance of selecting target genes. Method The clinical features, biomarkers, the furosemide/hydrochlorothiazide load test, and gene detection in 5 patients with Bartter syndrome and Gitelman syndrome were retrospectively analyzed during 2012 to 2014. Results All of those 5 patients were manifested low potassium and metabolic acidosis; basis of renin, angiotensin II, and aldosterone were elevated. The blood pressures were normal. Most of the patients suffered from polydipsia, diuresis, and different degrees of growth retardation. The gene analysis of these 5 patients made the same diagnoses as furosemide/hydrochlorothiazide load test did. Conclusions Furosemide/hydrochlorothiazide load test can make a differentiation of Bartter syndrome from Gitelman syndrome and thus it can guide the selection of targeted gene detection.
Methylmalonic acidemia: 3 cases report and literature review
ZHAO Peiwei, CAI Xiaonan, WU Gefei, YUE Xin, HU Jiasheng, LIU Zhisheng, HE Xuelian
. 2016, 34(12): 894. doi:
10.3969/j.issn.1000-3606.2016.12.004
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Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/ C2 rate 1.363, homocysteine >?65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/?C2 rate was 0.37, homocysteine >?65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G?>?A and c.609G?>?A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/?C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C?>?T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was combined with epileptic seizure in some patents, which further validate that the mutation in MMACHC gene c.482G?>?A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.
MECP2 duplication syndrome: a pedigree report and literature review
ZHU Min, ZHANG Yue, TANG Jian, DU Senjie, FU Dalin, ZHAO Xiaoke, LI Hongying, ZHANG Li
. 2016, 34(12): 898. doi:
10.3969/j.issn.1000-3606.2016.12.005
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Objective To explore the clinical features and the gene mutations in MECP2 duplication syndrome. Methods The clinical data of a child with developmental retardation and hypophrenia accompanied with respiratory tract infection was analyzed retrospectively. Microarray analysis technique was used to detect the genes in the patient and his family. The pertinent literature was reviewed. Results A 1-year and 7-month old boy was found to have hypotonia, developmental delay, and recurrent respiratory tract infections after birth. Microarray analysis showed a duplication of 441.88kb in Xq28 area and diagnosis of MECP2 duplication syndrome was confirmed. His grandmother, mother, and two aunts were found duplication of 441.73-441.88kb in Xq28 area, all of whom were MECP2’s female carrier. Conclusions The improvement of chromosome chip technology inspection is helpful to the early diagnosis of MECP2 duplication syndrome.
Neonatal-onset carbamoyl phosphate synthetaseⅠdeficiency: a case report and literature review
LEI Haihong, YANG Xiaoyan, SHI Jing, XIONG Ying
. 2016, 34(12): 903. doi:
10.3969/j.issn.1000-3606.2016.12.006
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Objective To explore the clinical characteristics of neonatal-onset carbamoyl phosphate synthetase I deficiency (CPS1D). Methods Clinical data and result of genetic detection of one neonate with CPS1D were retrospectively analyzed. The pertinent literature was reviewed. Results A 3-day old girl, with onset symptoms of nonspecific performance, such as poor feeding, less activity, tachypnea, and seizures. After fasting, anti-infection, and respiratory support etc. the condition was improved. However, the condition deteriorated and developed rapidly after feeding restarted. MRI showed extensive cerebral white matter lesions. Blood ammonia?>?500 μmol/L. Gene detection found two heterozygous mutations in pathogenic gene CPS1 in twentieth exon of c.2407C?>?G (p.803, R, G) and fourth exon C.323G?>?A (p.108, G, E), according to which CPS1D was diagnosed finally. Conclusions For neonate with normal birth, had feeding difficulty, seizures, and consciousness disorder after establishment of normal feeding, if blood ammonia level significantly increased, the blood and urine amino acids analysis and gene detection should be performed to confirm the diagnosis.
Clinical feature and gene detection in one case of Wiskott-Aldrich syndrome
CHENG Xuewen, LUO Jianhong
. 2016, 34(12): 907. doi:
10.3969/j.issn.1000-3606.2016.12.007
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Objective To explore the characteristics of WAS gene mutation in Wiskott-Aldrich syndrome (WAS). Methods The clinical data of one infant with WAS were retrospectively analyzed. All exons and flanking sequences in WAS gene were detected by PCR. Results A 5-month-old boy, who has a history of eczema and recurrent infection, was hospitalized for thrombocytopenia. CD8+ and CD4+ T cell were increased while CD19+ B cell was normal. Bone marrow cytology suggested megakaryocyte mature hindrance. WAS gene detection found C.880 A?>?G (p.Ile294Val) mutation, but no mutations were found in parents. This site was a pathogenic mutation predicted by Polyphen 2 software and SIFT software. Besides, sequence conservation analysis of different species found it was a conservative site and structural prediction analysis revealed it may affect the normal protein structure. This site of mutation has not been reported before. Conclusions Gene detection can make early diagnosis of WAS and C.880 A?>?G (p.Ile294Val) is a new mutation.
Clinical study on the efficacy and safety of Dextromethorphan Hydrochloride, Chlorphenamine Malente, and Ammonium Chloride Syrup on eliminating or relieving the symptoms of acute upper respiratory infection in children
FANG Dingzhu, BAO Yixiao, Registration Study Group of Dextromethorphan Hydrobromide Chlorphenamine Maleate and Ammonium Chloride Syrup
. 2016, 34(12): 910. doi:
10.3969/j.issn.1000-3606.2016.12.008
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Objective To evaluate the efficacy and safety of Dextromethorphan Hydrochloride, Chlorphenamine Malente, and Ammonium Chloride Syrup on eliminating or relieving the symptoms of acute upper respiratory infections in children, by comparing with Guaifenesin, Dextromethorphan Hydrobromide, Methylephedrine Hydrochloride, and Chlorphenamine Maleate Syrup. Methods Random, blind and parallel control method was adopted. A total of 253 pediatric patients were recruited in 11 clinical research centers; 127 patients were assigned in experimental group and finally 118 patients were included in the program set analysis (PPS); 126 patients were assigned into control group and finally 116 patients were included in PPS. The experimental group took Dextromethorphan Hydrochloride, Chlorphenamine Malente, and Ammonium Chloride Syrup and control group took Guaifenesin, Dextromethorphan Hydrobromide, Methylephedrine Hydrochloride, and Chlorphenamine Maleate Syrup. All of the patients took as prescribed at least for 3 days but not more than 7 days. Results There was no significant differences in age, sex, and acute upper respiratory tract infection scores between the two groups (P?>?0.05). PPS showed the median time of symptom relief of acute upper respiratory tract infection in experimental group was 51.0 h (95%CI: 43.0-62.0 h) and 56.0 h (95%CI: 48.0-64.0 h) in control group. There was no difference between two groups (P?>?0.05). After calibration of center and baseline effects, the experimental group was not worse than the control group. There was no difference in the score of acute upper respiratory tract infection between two groups (F=0.14, P=0.710). The individual symptoms disappear rate of acute upper respiratory tract infection and the compliance between two groups were similar (P all?>?0.05). Both groups had 7 cases of adverse events, and one case of adverse drug reactions each. Thus, the adverse reaction rates in two groups were 0.8% each. Conclusions Dextromethorphan Hydrochloride, Chlorphenamine Malente, and Ammonium Chloride Syrup can effectively relieve symptoms rapidly in the treatment of children with acute upper respiratory tract infection, and its efficacy and safety were non worse than traditional Guaifenesin, Dextromethorphan Hydrobromide, Methylephedrine Hydrochloride, and Chlorphenamine Maleate Syrup.
The clinical outcomes of nutritional support in children with high nutritional risk
XIE Qi, HUANG Ling, LI Xinhui
. 2016, 34(12): 917. doi:
10.3969/j.issn.1000-3606.2016.12.009
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Objective To explore the clinical outcomes of nutritional support in children with high nutritional risk. Methods Improved screening tool for the assessment of malnutrition in pediatrics (STAMP) was used to make nutritional risk score in 1296 cases of consecutively hospitalized patients, and to analysis the effects of nutrition support in clinical outcome. Results In these 1296 hospitalized patients, 379 cases had STAMP score?≥?4 and the detection rate of high nutritional risk was 29.24%. A total of 304 cases were included for further analysis, including 85 cases (27.96%) of nutritional support, among whom there were 37 cases of parenteral nutrition (PN), 23 cases of enteral nutrition (EN), 25 cases of combined application of EN and PN. Per capita and daily mean support cost were statistically different among patients with EN, PN and combination of PN and EN (P all?0.001), and EN had least cost. Compared with patients without nutrition support, the infection rate in patients with nutrition support were lower, but there was no statistic difference (P? =?0.095); the treatment fee of infectious diseases in patients without nutrition support was higher than that of patients with nutrition support and the cost of antibiotics was higher as well, and there were statistic differences (P all?0.001). The hospitalization costs in patients without nutrition support were different from that in patients with EN, PN, and PN combined EN (P all?0.001), while the duration of hospital stays were the same (P? =?0.213). Conclusions Improved STAMP is a simple and practical nutritional risk screening tool for pediatric patients; there are differences in the cost among different nutrition support methods. Nutritional support can effectively improve clinical outcomes, especially in reducing infection and reducing the cost for the treatment of infection.
The analysis of bacteriological changes and susceptible factor of nosocomial infection in neonatal intensive care unit
HE Haiying, JIANG Haiyan, LIU Lijun, DU Fenghua, LI Yanhui, ZHAO Changliang
. 2016, 34(12): 922. doi:
10.3969/j.issn.1000-3606.2016.12.010
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Objetive To explore bacteriological changes and susceptible factor of nosocomial infection in neonatal intensive care unit (NICU). Methods The clinical data from 5543 hospitalized neonates during January 2010 to December 2015 were retrospectively analyzed. Results Nosocomial infection rate during the study period was 8.75%. The most common pathogen of nosocomial infection was Staphylococcus epidermidis, followed by Escherichia coli and Klebsiella pneumoniae. Respiratory infection accounted for 37.73% and blood infection 37.53%. 36.74% blood samples were tested to be positive, and 32.67% sputum were positive. In the first three years, the main pathogens of nosocomial infection were Candida albicans, Klebsiella pneumonia, and Staphylococcus aureus; in the last three years, the main pathogens were Staphylococcus aureus, Escherichia coli, and Klebsiella pneumoniae. The susceptible factors of nosocomial infection in NICU were gestational age?37 week (OR?=?2.29, 95%CI:1.89-2.77), birth body mass?1500 g (OR?=?37.91, 95%CI: 29.85-48.16), mechanical ventilation (OR?=?23.16, 95%CI:5.72-71.31), male (OR?=?1.24, 95%CI:1.03-1.49), and indwelling catheter (OR?=?3.73, 95%CI:1.94-19.36). Conclusions Neonatal nosocomial infections mainly were respiratory tract infections and blood infections. Staphylococcus aureus, Escherichia coli, and Klebsiella pneumoniae were the common pathogens. Prem
Correlation of asthma with ADAM33 SNP in Uygur and Han children in Urumqi
WANG Jianrong, WU Yingjie,Duolikun Muzapae
. 2016, 34(12): 926. doi:
10.3969/j.issn.1000-3606.2016.12.011
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Objective To explore the correlation between ADAM33 SNP and asthma in Uygur and Han children in Urumqi. Methods Eighty-six Uygur and 111 Han children aged 3-15 years old who had asthma and lived in Urumqi were included. Meanwhile 56 Uygur and 64 Han healthy children were also included as control group. Genotyping of single nucleotide polymorphism (SNP) of V4 and T2 loci in ADAM 33 gene was performed by PCR, and verifications was made. Results There were statistical differences of V4 and T2 loci in ADAM 33 gene among asthma group and control group (P all?0.01); CC genotype frequency was high in V4 loci in asthma group; Compared with G allelic gene, C allelic gene caused a 1.51-fold increased risk of asthma (95%CI:1.10-2.09). AA genotype frequency was high in T2 loci in asthma group; Compared with
G allelic gene, an allelic gene caused a 1.96-fold increased risk of asthma (95%CI:1.32-2.91). There was no difference of V4 or T2 loci in ADAM 33 gene between asthma group and control group in Han children (P all?>?0.05) while there were differences in Uygur children (P all0.05). Conclusions V4 or T2 loci in ADAM 33 gene is associated with asthma in Uygur children.
Clinical features and treatment of autoimmune hemolytic anemia in 29 children
XIE Fei, ZHOU Lin, CAI Bin, LEI Lei, JIANG Jinjin, CHEN Ruohua
. 2016, 34(12): 930. doi:
10.3969/j.issn.1000-3606.2016.12.012
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Objective To analyze the etiology and treatment of autoimmune hemolytic anemia. Methods The clinical data of 29 children with autoimmune hemolytic anemia during January 2013 to December 2015 were retrospectively analyzed. Results In 29 children, 10 cases were idiopathic 19 cases were secondary and 11 cases occurred after infections. The main clinical manifestations were pallor, jaundice, dark urine, and hepatosplenomegaly. 21 cases were Coombs test positive. In 29 children, 22 cases had a good response to adrenocortical hormone therapy while in 7 cases which had not response to adrenocortical hormone, good efficacy was achived after combined with the gamma globulin treatment. Conclusions The first line drug for autoimmune hemolytic anemia treatment is adrenocortical hormone. The gamma globulin can improve the efficacy.
The clinical features of hereditary nephrotic syndrome caused by NPHS2 mutation in two pediatric patients
CUI Jieyuan, ZHANG Hongwen
. 2016, 34(12): 933. doi:
10.3969/j.issn.1000-3606.2016.12.013
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Objective To explore the clinical features of steroid resistant nephrotic syndrome caused by NPHS2 gene mutation. Methods The clinical data of two pediatric patients with steroid resistant nephrotic syndrome were retrospectively analyzed. The pertinent literatures were reviewed. Results Both patients were male with onset age at 2 and 3 years old. The clinical features were heavy proteinuria, hypoalbuminemia, and hypercholesterolemia, which met the diagnostic criteria of nephrotic syndrome. Renal pathology found one patient with focal segmental glomerulosclerosis, and other with minimalchange. Both of them suffered from recurrent inguinal hernioplasty and one was accompanied with hypoplasia of left testis. Gene detection verified a NPHS2 gene mutation. Both of them were hormone resistant at the beginning of onset and later hormone combined with different kinds of immunosuppressive therapy was still ineffective. Both of them entered the end-stage of renal disease 3 years after onset. Conclusions For male pediatric patients with steroid resistant nephrotic syndrome, combined with non-renal manifestations such as multiple hernia or testicular abnormalities, the possibility of the hereditary nephrotic syndrome caused by NPHS2 mutations should be considered.
The effect of Quercetin on the long-term memory and PARP- 1 /AIF signal path in neonatal rats with hypoxicischemic brain damage
YANG Qingli,CHEN Yanfeng
. 2016, 34(12): 936. doi:
10.3969/j.issn.1000-3606.2016.12.014
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Objective To explore the effect of Quercetin on the long-term memory and PARP-1/AIF signal path in neonatal rats with hypoxic-ischemic brain damage (HIBD). Methods Fifty-six 7-day-old SD rats were randomly divided into sham-operation group, HIBD group, low dose of Quercetin group (20 mg/kg), and high dose of Quercetin group (40 mg/kg), each of 14 rats. Except for sham-operation group, in the other groups HIBD model were made by right common carotid artery ligation and anoxiate. The Quercetin groups were injected with the corresponding doses of Quercetin immediately once a day continuously for 7 days after the model was made,. Sham-operation group and HIBD group were intraperitoneally injected with normal saline at the same time. Neural function was evaluated by Hanging wire test and Vertical pole test at 21 days old. The capacity of learning and memory was detected by Morris water maze at 28 days old, and then rats were killed and brains were taken. HE was used to observe the pathological changes of hippocampus. Western blot were used to detect the expression of PARP-1 and AIF in hippocampus. Results Compared with sham-operation group, the neural function and learning and memory ability decreased significantly in HIBD group. Those ability in both low dose and high dose of Quercetin groups were remarkably increased in comparison with HIBD group, and there were statistic differences (P?0.05). HE showed an neuro-structure was intact and neatly arranged in hippocampus in sham-operation group. The neurons in HIBD group were obviously decreased in number and loosely arranged while those in both low dose and high dose of Quercetin groups were more increased and neatly arranged when compared with HIBD group. The expressions of PARP-1, AIF, and Bax in rats’ hippocampus were higher in HIBD group than those in low dose or high dose of Quercetin groups which were higher than those in sham-operation group. The change of Bcl-2 was the opposite, and there were statistic differences (P?0.05). Furthermore, there was no difference between low dose of Quercetin group and high dose of Quercetin group in neural function, learning and memory ability, the expressions of PARP-1, AIF, Bcl-2, and Bax (P?>?0.05). Conclusion Quercetin could improve long-term learning memory in newborn rats with HIBD, and the mechanism may be down-regulation of PARP-1/AIF cell apoptosis signaling pathway, inhibition of neuronal apoptosis, and thus play a role in protection of brain.
Study of endothelial cell toxicity of low dosage of extracellular histones
ZHU Mingang,TAO Yue,CAO Qing,ZHOU Yunfang,MO Xi
. 2016, 34(12): 942. doi:
10.3969/j.issn.1000-3606.2016.12.015
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Objective To investigate the effects of low dose of extracellular histone on endothelial cells in infectious diseases such as sepsis. Methods The endothelial cells were treated with 10 µg/mL recombinant human histone H3/H4 complex in replacement of calf thymus histones (CTH) for various periods of time, and the morphology changes and the viability of the endothelial cells were recorded. In addition, flow cytometry was applied to identify the characteristics of endothelial cells and enzyme-linked immunosorbnent assay (ELISA) was used to detect the extracellular histones level in endothelial cells culture. Results The low dose of CTH could continuously induce endothelial cells death, cell morphological changes and function loss, which was reproduced by 10 µg/mL recombinant histone H3/H4 complex. Results of histones quantitation showed that histone can cause a series of intracellular reactions in a short period of time. Conclusions It is showed that 10 µg/mL H3/H4 can induce the toxicity in infectious disease and this level of the dose is a lower than those used in previous studies and more close to the pathological conditions.
Neonatal intrahepatic cholestasis caused by citrin deficiency: updated understanding
LIU Jingying, MIAO Jingkun, HUA Yuanyuan, LIU Huijuan, MA Qian, LI Chun, YU Jialin
. 2016, 34(12): 949. doi:
10.3969/j.issn.1000-3606.2016.12.016
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by SLC25A13 gene mutations, and is characterized by delayed jaundice clearance, liver dysfunction, and elevated aminoacidemia. The confirmed diagnosis depends on gene analysis. Citrin deficiency is one of the important causes of neonatal intrahepatic cholestasis in China. Recently more and more researches about NICCD were reported. The paper summarized the epidemiology, pathogenesis, clinical characteristics, and progresses in diagnosis and treatment of NICCD.