Risk factors for first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence: a nested case-control study / 中华麻醉学杂志

Objective:To identify the risk factors for the first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence (PRS).Methods:Clinical data of pediatric patients with PRS who underwent mandibular distraction osteogenesis from January 2018 to February 2023 were collected, including sex, age, premature birth, birth weight, surgical weight, cleft palate, syndrome type PRS, laryngeal/tracheobronchial malacia, simple congenital heart disease, complex congenital heart disease, preoperative mechanical ventilation, preoperative pulmonary infection, blood albumin concentration, difficulty in tracheal intubation under a visual laryngoscope, surgical duration, postoperative ventilator-associated pneumonia, duration of mechanical ventilation at first weaning, and traction length at first weaning. Children in whom the first postoperative machine withdrawal failed were included in observation group and matched to control cases(control group) in a 1∶4 ratio. The risk factors of which P values were less than 0.05 would enter the logistic regression analysis to stratify the risk factors for postoperative weaning failure. Results:There were significant differences in birth weight, cleft palate, duration of mechanical ventilation and traction length at first weaning, rate of combined cleft palate, preoperative pulmonary infection rate, rate of preoperative mechanical ventilation, and rate of postoperative ventilator-associated pneumonia between the two groups ( P<0.05). Binary logistic stepwise regression analysis showed that the preoperative mechanical ventilation ( OR=18.154, 95% CI 3.971-82.990, P<0.001) and postoperative ventilator-associated pneumonia ( OR=36.942, 95% CI 1.307-1043.985, P=0.034) were independent risk factors for first weaning failure after mandibular distraction osteogenesis, while birth weight gain ( OR=0.225, 95% CI 0.076-0.668, P=0.007) was a protective factor for first weaning failure ( P<0.05). Conclusions:Preoperative mechanical ventilation and postoperative ventilator-associated pneumonia are independent risk factors and birth weight gain is a protective factor for first weaning failure following mandibular distraction osteogenesis in pediatric patients with PRS.

Diagnosis, treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children: experts′ consensus statement (Fifth Edition)updated for the Omicron variant / 中华实用儿科临床杂志

China has classified the Corona Virus Disease 2019(COVID-19) as a statutory category B infectious disease and managed it according to Category B since January 8, 2023.In view that Omicron variant is currently the main epidemic strain in China, in order to guide the treatment of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infection in children with the times, refer to the Diagnosis and Treatment Protocol for Novel Coronavirus Infection (Trial 10 th Edition), Expert Consensus on Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fourth Edition) and the Diagnosis and Treatment Strategy for Pediatric Related Viral Infections.The Expert Consensus on the Diagnosis, Treatment and Prevention of Novel Coronavirus Infection in Children (Fifth Edition) has been formulated and updated accordingly on related etiology, epidemiology, pathogenic mechanism, clinical manifestations, auxiliary examination, diagnosis and treatment, and added key points for the treatment of COVID-19 related encephalopathy, fulminating myocarditis and other serious complications for clinical reference.

Epidemiological and clinical features of SARS-CoV-2 Infection in children during the outbreak of Omicron Variant in Shanghai, March 7-March 31, 2022

ObjectivesTo understand the epidemiological and clinical characteristics of pediatric SARS-CoV-2 infection during the early stage of Omicron variant outbreak in Shanghai. MethodsThis study included local COVID-19 cases <18 years in Shanghai referred to the exclusively designated hospital by the end of March 2022 since emergence of Omicron epidemic. Clinical data, epidemiological exposure and COVID-19 vaccination status were collected. Relative risks (RR) were calculated to assess the effect of vaccination on symptomatic infection and febrile disease. ResultsA total of 376 pediatric cases of COVID-19 (median age:6.0{+/-}4.2 years) were referred to the designated hospital during the period of March 7-31, including 257 (68.4%) symptomatic cases and 119 (31.6%) asymptomatic cases. Of the 307 (81.6%) children;3 years eligible for COVID-19 vaccination, 110 (40.4%) received 2-dose vaccines and 16 (4.0%) received 1-dose vaccine. The median interval between 2-dose vaccination and infection was 3.5 (IQR: 3, 4.5) months (16 days-7 months). Two-dose COVID-19 vaccination reduced the risks of symptomatic infection and febrile disease by 35% (RR 0.65, 95% CI:0.53-0.79) and 33% (RR 0.64, 95% CI: 0.51-0.81). Two hundred and sixteen (83.4%) symptomatic cases had fever (mean duration: 1.7{+/-}1.0.8 days), 104 (40.2%) had cough, 16.4% had transient leukopenia; 307 (81.6%) had an epidemiological exposure in household (69.1%), school (21.8%) and residential area (8.8%). ConclusionThe surge of pediatric COVID-19 cases and multiple transmission model reflect wide dissemination of Omicron variant in the community. Asymptomatic infection is common among Omicron-infected children. COVID-19 vaccination can offer protection against symptomatic infection and febrile disease.

Recent Progress in Hepatic Involvement in Shwachman-Diamond Syndrome / 罕见病研究

Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by pancreatic and bone marrow abnormalities with frequent liver involvement.Patients with SDS display aminotransaminase elevation and hepatomegaly in their early childhood. For most of the patients, the syptoms tend to improve as they grow. However, a number of the children with progress into cirrhosis even liver failure, and the prognosis is poor.This paper summarizes advances in the epidemiology, pathogenesis, clinical manifestations, and diagnosis and treatment of hepatopathy in Shwachman-Diamond syndrome.

Diagnosis, treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children: experts′ consensus statement (Fourth Edition) / 中华实用儿科临床杂志

Since December 2019, severe acute respiratory syndrome coronavirus 2(SARS-CoV-2) infections have raged globally for more than 2 years.China has always adopted scientific and effective prevention and control measures to achieved some success.However, with the continuous variation of SARS-CoV-2 cases and imported cases from abroad, the prevention and control work has become more difficult and complex.With the variation of the mutant strain, the number of cases in children changed, and some new special symptoms and complications were found, which proposed a new topic for the prevention and treatment of SARS-CoV-2 infection in children in China.Based on the third edition, the present consensus according to the characteristics of the new strain, expounded the etiology, pathology, pathogenesis, and according to the clinical characteristics and experience of children′s cases, and puts forward recommendations on the diagnostic criteria, laboratory examination, treatment, prevention and control of children′s cases for providing reference for further guidance of effective prevention and treatment of SARS-CoV-2 infection in children in China.

Expert consensus on the diagnosis, treatment and prevention of monkeypox in children / 中华实用儿科临床杂志

Monkeypox is a zoonotic disease.Previous studies have shown that children are vulnerable to monkeypox and are also at high risk for severe disease or complications.In order to improve pediatricians′ understanding of monkeypox and achieve early detection, early diagnosis, early treatment and early disposal, the committee composed of more than 40 experts in the related fields of infectious diseases, pediatrics, infection control and public health formulate this expert consensus, on the basis of the latest clinical management and infection prevention and control for monkeypox released by the World Health Organization (WHO), the guidelines for diagnosis and treatment of monkeypox (version 2022) issued by National Health Commission of the People′s Republic of China and other relevant documents.During the development of this consensus, multidisciplinary experts have repeatedly demonstrated the etiology, epidemiology, transmission, clinical manifestations, laboratory examinations, diagnosis and differential diagnosis, treatment, discharge criteria, prevention, case management process and key points of prevention and control about monkeypox.

Clinical analysis of posttransplant lymphoproliferative disorder in pediatric liver transplant recipients: a report of 11 cases / 中华器官移植杂志

Objective:To explore the clinicopathological characteristics, treatments and outcomes of posttransplant lymphoproliferative disorder(PTLD)in pediatric liver transplant recipients.Methods:From October 2016 to October 2021, retrospective data analysis was performed for 11 pediatric liver transplant recipients with PTLD. There were 5 males and 6 females with a diagnostic age of 1-8 years. Living donor liver transplantation(LDLT, n=9)and deceased donor liver transplantation(DDLT, n=2)were performed. All recipients received tacrolimus plus methylprednisolone. The major clinical manifestations included lymphadenopathy, splenomegaly, anemia, fever and digestive system symptoms(diarrhea, abdominal pain, ascites, hematochezia & intussusception, etc.). Laboratory tests hinted at hypoproteinemia, elevated transaminases and serum positivity of EBV-DNA. Positron emission tomography and computed tomography(PET-CT)revealed PTLD( n=9). Ten children were diagnosed by pathology, including lymphoid hyperplasia( n=3), plasmacytic hyperplasia PTLD( n=1), polymorphic PTLD( n=2), diffuse large B-cell lymphoma( n=2), infectious mononucleosis PTLD( n=1)and Burkitt lymphoma( n=1). Results:After a definite diagnosis of PTLD, tacrolimus was tapered or discontinued. And rituximab was prescribed. Two patients received chemotherapy(R-COP & R-CHOP)while 2 cases of local masses were operated. Up until February 2022, 10 cases survived and their conditions improved. One patient died of infection.Conclusions:PTLD is one of the most serious and fatal complications after liver transplantation in children. Clinical manifestations are diverse and an early diagnosis is difficult. The changes of EBV-DNA load should be closely monitored after liver transplantation. Imaging and pathological examinations may aid in an early diagnosis of PTLD. A treatment regimen based on immunosuppression reduction and rituximab improves the prognosis of PTLD in pediatric liver transplant recipients.

The diagnosis and treatment of pediatric acute liver failure should be taken seriously / 临床肝胆病杂志

Although pediatric acute liver failure (PALF) is rare in clinical practice, it seriously threatens the life and health of children due to acute onset and rapid progression. PALF has various etiologies, and at present, it is still unable to identify the etiology in a relatively large proportion of children. The clinical manifestations of PALF are also different from those of adults, and it is difficult to judge early hepatic encephalopathy in infants and young children. It is very important to maintain the stability of internal environment, provide etiological treatment, and avoid drug abuse and the abuse of blood products. Blood purification can be performed for patients with related indications to win more time for autogenous liver function recovery and liver transplantation, and the precise diagnosis and treatment of PALF should be taken seriously in clinical practice.

Clinical and genetic features of patients with glycogen storage disease type Ⅸa: An analysis of 20 cases / 临床肝胆病杂志

ObjectiveTo investigate the clinical and genetic features of patients with glycogen storage disease type Ⅸa (GSD Ⅸa), and to improve the clinical understanding of the disease. MethodsA retrospective analysis was performed for the clinical data of 20 patients who were hospitalized and genetically diagnosed with GSD Ⅸa in Children’s Hospital of Fudan University from January 2015 to December 2018, and their clinical and genetic features were summarized. ResultsAll 20 patients with GSD Ⅸa were male, with a median age of 2.5 years at the time of confirmed diagnosis. All patients had hepatomegaly and elevated aminotransferases; of all patients, there were 5 patients (250%) with growth retardation, 19 (95.0%) with fasting hypoglycemia, 14 (70.0%) with hyperlactatemia, 9 (45.0%) with hypertriglyceridemia, and 5 (25.0%) with hypercholesterolemia. Fasting blood ketone was measured for 8 patients and all of these patients had an increase in blood ketone; all patients had normal uric acid, and 5 patients (25.0%) had positive urine ketone. Liver biopsy was performed for 18 patients, among whom 15 had mild to moderate liver fibrosis. A total of 16 mutations were detected in the PHKA2 gene, among which 5 were known pathogenic mutations and 11 were novel mutations, and most of the mutations were detected in the c.3614 locus. All patients were treated with uncooked cornstarch, and most patients achieved an improvement in clinical manifestations. ConclusionGSD Ⅸa is more common in male patients. This disease should be considered for patients with hepatomegaly, elevated aminotransferases, growth retardation, fasting hypoglycemia, elevated fasting blood ketone, and normal uric acid. Liver biopsy may help with the diagnosis of this disease, and clinical biochemical parameters and gene detection can be used to confirm diagnosis and classification. Most patients have mild clinical manifestations, while some patients may have liver fibrosis, and treatment with uncooked cornstarch can improve the condition of this disease.

Application of transient elastography in assessing hepatic fibrosis in pediatric chronic liver disease / 中华实用儿科临床杂志

Objective:To assess the transient elastography (TE) in assessing hepatic fibrosis in pediatric chronic liver disease.Methods:Children with chronic liver disease who were both examined with TE and percutaneous transhepatic puncture for grading Scheuer scores in the Children′s Hospital of Fudan University from January 2017 to September 2017 were recruited.Ordinal Logistic regression analysis was used to analyze the interfering factors for hepatic fibrosis.Receiver operating characteristic (ROC) curves were plotted to acquire the optimal cut-off value and to calculate the area under the curve (AUC). Results:Thirty-eight children were enrolled finally, including 28 boys and 10 girls with the mean age of 7.4 years old (1.1-16.0 years). The success rate of detecting hepatic fibrosis was 85%.Ordinal Logistic regression analysis discovered that only the value of liver stiffness measured by TE was correlated with the grade of hepatic fibrosis ( β=0.055, P<0.001). TE was effective to differentiate hepatic fibrosis[<S2 vs.≥S2 (6.6±4.0) kPa vs.(21.2±18.6) kPa, P=0.001], significant hepatic fibrosis[<S3 vs.≥S3 (7.4±4.0) kPa vs.(34.8±19.0) kPa, P=0.000 1, and cirrhosis[<S4 vs.S4 (10.6±12.3) kPa vs.(35.8±15.1) kPa, P=0.002]. At the cut-off values of liver stiffness measurement with 6.89 kPa and 14.39 kPa, AUC of it to predict the grade of hepatic fibrosis ≥S2 and ≥S3 were 0.81 ( P=0.001) and 0.94( P<0.001), respectively. Conclusions:TE is a useful and reliable noninvasive tool to assess hepatic fibrosis in pediatric chronic liver disease.

A Case Series of Children With 2019 Novel Coronavirus Infection: Clinical and Epidemiological Features.

We first described the 2019 novel coronavirus infection in 10 children occurring in areas other than Wuhan. The coronavirus diseases in children are usually mild and epidemiological exposure is a key clue to recognize pediatric case. Prolonged virus shedding is observed in respiratory tract and feces at the convalescent stage.

Advances in the diagnosis and treatment of pediatric autoimmune hepatitis / 临床肝胆病杂志

Autoimmune hepatitis (AIH) is a progressive inflammatory liver disease, and the incidence rate of pediatric AIH is gradually increasing in recent years. AIH can be classified into AIH-1 (with positive antinuclear antibody and/or smooth muscle antibody and/or anti-soluble liver antigen antibody) and AIH-2 (with positive liver-kidney microsomal type 1 antibody and/or anti-liver cytosol type 1 antibody), among which AIH-2 is mainly seen in children. Positive autoantibodies are rare in healthy children, and thus the requirements for autoantibody titer in the diagnosis of pediatric AIH are lower than the criteria for adults. Pediatric AIH progresses more rapidly than adult AIH, and treatment should be started immediately after confirmed diagnosis. Scoring systems for the diagnosis of AIH in adults are not applicable to pediatric patients and cannot be used to differentiate AIH from autoimmune sclerosing cholangitis.

Congenital disorders of glycosylation and liver diseases / 临床肝胆病杂志

Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.

Myriad faces of genetic liver disorders / 临床肝胆病杂志

With the improvement in quality of life and the level of prevention and treatment of viral hepatitis, as well as the availability of genetic testing, genetic liver disorders have been taken more and more seriously. Genetic liver disorders have various clinical manifestations, such as abnormalities in the liver and intrahepatic or extrahepatic blood vessels/bile ducts, and it can also involve other organs and systems in the human body. These are the myriad faces of genetic liver disorders. This article focuses on different manifestations of genetic liver disorders, in order to help physicians identify the etiology and pathogenic gene of liver disease.

Advances in research and application of liver organoids / 临床肝胆病杂志

Liver diseases significantly affect human health. Classic research models cannot maintain hepatocyte polarity for a long time and have a different genetic background from normal human hepatocytes, which limits the research on the physiological functions of hepatocytes and the mechanisms of related diseases. The latest liver organoid technology can obtain liver organoids with partial liver structure by reprogrammed induced pluripotent stem cells or in vitro culture of liver biopsy tissue and maintain long-term proliferation and genetic stability, and therefore, it is expected to become a powerful tool for disease modelling, drug screening, and cell therapy. This article mainly reviews the research and application of liver organoids in recent years.

Efficacy of nasotracheal intubation for airway management in neonates with Pierre Robin sequence undergoing surgery with general anesthesia / 中华麻醉学杂志

Objective To evaluate the efficacy of nasotracheal intubation for airway management in neonates with Pierre Robin sequence undergoing surgery with general anesthesia. Methods Sixty full-term neonates of both sexes with Pierre Robin Sequence, aged 2-28 days, weighing 2. 4-3. 8 kg, scheduled for elective mandibular distraction osteogenesis, were divided into 2 groups ( n=30 each) using a random num-ber table method: nasotracheal intubation group (group N) and orotracheal intubation group (group O). Combined intravenous-inhalational anesthesia was used during surgery. The success rate of intubation, intu-bation time, heart rate, mean arterial pressure and SpO2 during intubation, and occurrence of complica-tions during intubation were recorded, and the time of extubation and occurrence of complications after extu-bation were also recorded. Results Compared with group O, the intubation time was significantly short-ened, the first-time intubation success rate was increased, the heart rate and mean arterial pressure were decreased at 2 min after intubation, the lowest SpO2 was increased during intubation, and the incidence of pharyngeal soft tissue injury during intubation and hoarseness after extubation was decreased in group N ( P<0. 05) . Conclusion Nasotracheal intubation can be used for airway management in neonates with Pierre Robin sequence undergoing surgery under general anesthesia, and the efficacy is superior to that of orotra-cheal intubation.

Focus on diagnosis and treatment of genetic liver disorders / 中华肝脏病杂志

The advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease. Regardless of disease origin, all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders. Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes. Moreover, the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists. Notably, all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders, except for factors such as infection, immunity, drug-related, and anatomical abnormalities. We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype, genotype, and metabolomics.

Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review / 中华儿科杂志

Objective@#To summarize and review the clinical and genetic features of neonatal sclerosing cholangitis (NSC) caused by DCDC2 variations.@*Methods@#Whole exome sequencing was performed to identify DCDC2 variants in two Chinese siblings with NSC who were diagnosed in Children's Hospital of Fudan University in May 2017. Clinical, laboratory and genetic data of the two cases were summarized. Key words of "DCDC2" "neonatal sclerosing cholangitis" were searched in Chinese databases and PubMed for articles published until April 2018, and all the relevant literature were reviewed.@*Results@#Patient 1 was a 3-year-and-2-month-old boy. He was admitted to our hospital due to cholestasis for 3 years. Laboratory findings showed elevated levels of gamma-glutamyl transpeptidase (161-1 092 U/L) and total cholesterol (5.4-7.7 mmol/L). Magnetic resonance cholangiopancreatography showed multiple dilations of intrahepatic bile ducts and bilateral hydronephrosis. Patient 2, the older brother of patient 1, was a 9-year-and-9-month-old boy. He was admitted to our hospital due to "cholestasis for 9 years" . CT angiography showed hydrocephalus and left internal carotid artery aneurysms with vascular malformations. A homozygous variant c.529dupA (NM_001195610) in DCDC2 gene was identified in patient 1 by whole exome sequencing. Patient 2 was a homozygote and his parents were heterozygotes with the variation. There has been 2 relevant articles published (Chinese 0, English 2), which reported 11 cases of DCDC2-related NSC in total. All the 13 patients, including the 2 cases reported here, had an onset of symptoms at 0 to 6 months of age. The most common clinical manifestation was cholestasis with high gamma-glutamyl transpeptidase levels, acholic stool, and progression to portal hypertension. Renal and neurological abnormalities were also frequently present. Hypercholesterolemia was observed in one case. Radiological findings revealed the characteristic strictures and dilatations of the intrahepatic and (or) extrahepatic biliary tree. Liver histological examination showed peripheral ductopenia, ductal plate malformation, fibrosis, and cirrhosis. Among the 13 patients, 10 patients required liver transplantation. A total of 7 types of DCDC2 variants were detected in 13 patients.@*Conclusions@#DCDC2-related NSC is characterized by the onset of cholestasis with high gamma-glutamyl transpeptidase level and acholic stool in early infancy, which was likely to progress to cirrhosis in early childhood. Renal and neurological abnormalities are also frequently present.Cholangiography or magnetic resonance cholangiopancreatography show strictures and dilatations of the intrahepatic or (and) extrahepatic biliary tree. Identification of pathogenic DCDC2 variants would aid the diagnosis of NSC.

Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review / 中华儿科杂志

Objective@#To explore the relationship between genotype and phenotype of ABCB11 deficiency.@*Methods@#Clinical data of two siblings with ABCB11 deficiency were retrospectively analyzed. Related literature from PubMed, CNKI and Wangfang databases was reviewed to date (up to August 2017) with 'ABCB11 gene’ or 'bile salt export pump’, 'cholestasis’ and 'child’ as key words.@*Results@#The patients were siblings. Both of them presented as jaundice, pruritus and hepatosplenomegaly since 3 days after birth. Significant laboratory findings on admission of the older sister included high total bilirubin, 170 µmol/L;conjugated bilirubin, 115.8 µmol/L;alanine aminotransferase, 168 U/L;total bile acid 186.3 µmol/L and normal gamma-glutamyl transpeptidase. While routine laboratory data of the younger brother were as follows: total bilirubin, 148.8 µmol/L;conjugated bilirubin, 96.3 µmol/L;alanine aminotransferase, 232.8 U/L;total bile acid 226 µmol/L, and normal gamma-glutamyl transpeptidase.Both received ursodeoxycholic acid and fat-soluble vitamins. Liver pathology of the younger brother showed giant hepatocytes with ballooning degeneration, focal necrosis and intrahepatic cholestasis. Both the patients harbor the same compound heterozygous mutations in ABCB11 gene, c.145C>T (p.Q49X) and c.1510G>A (p.E504K). The sister is 9 years old now, with normal liver function. Jaundice faded around 3 months after birth, pruritus relieved at age 5, and medications was stopped since then. The brother progressed to liver failure after an operation on perianal abscess when he was 8-month-old, and received living-related liver transplantation when he was 9 month and 20 days old (from his mother). Now he is 1 year and 5 months old, with normal liver function. Both are under our follow-up. Literature review revealed 18 ABCB11 deficiency patients from 7 families who had apparent different prognoses, within each family the siblings had the same ABCB11 gene mutation. Seven cases relieved after ursodeoxycholic acid therapy and/or partial external biliary diversion, 5 received orthotopic liver transplantation, 2 developed hepatocellular carcinoma and 4 cases died in childhood.@*Conclusions@#The clinical manifestations of ABCB11 deficiency may vary greatly in patients carrying the same genotype, even in siblings. Patients should be managed in individualized maner.

Advances in the study of familial intrahepatic cholestasis / 中华实用儿科临床杂志

Hereditary intrahepatic cholestasis is an important cause of death or disability in childhood. With the development of molecular medicine,a series of familial intrahepatic cholestasis caused by gene mutations (ATP8B1 deficiency,ABCB11 deficiency,ABCB4 deficiency,TJP2 deficiency,NR1H4 deficiency and MYO5B deficiency)have been discovered successively. If these patients do not receive early intervention,they often develop liver cirrhosis and liver failure in childhood. Therefore,early diagnosis and intervention are very important for improving prognosis.