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Congenital disorders of glycosylation(CDG)are caused by defects in the synthesis of glycans and their binding to proteins and lipids.Up to now, over 100 types of CDG have been identified.This disease can cause functional damage to multiple organs including liver, kidney and heart.The CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG.Their clinical manifestations include enlarged liver, elevated transaminase, cholestasis, liver fibrosis, liver failure, abnormal ceruloplasmin, and copper accumulation.Their pathological manifestations include steatosis, fibrosis, liver cirrhosis, cholestasis, and abnormal bile duct.This review mainly describes the types of CDG and their pathogenesis, clinical manifestations and liver involvement to provide a perspective for the diagnosis of CDG with liver manifestations.
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<p><b>OBJECTIVE</b>To summarize the clinical features, biochemical change and genetic mutations of a neonate with congenital bile acid synthesis disorder type 2.</p><p><b>METHODS</b>Clinical features, blood biochemical index, gene analysis and treatment of the patient were reviewed.</p><p><b>RESULTS</b>The patient presented with the symptoms of jaundice 3 days after birth but without skin itching. Pale stool was noted. Subsequently, he presented with hepatomegaly, blood coagulation disorders, left cochlear nerve damage, liver cirrhosis and remarkable growth retardation. Serum biochemistries showed that bilirubin and transaminase were elevated, while γ -GT and total bile acid was normal. Abdominal ultrasonography indicated decline of gallbladder contraction. Cholangiography showed normal extra- and intrahepatic bile ducts and patent biliary tract. Liver biopsy showed intrahepatic cholestasis. Gene testing has identified a homozygous mutation in AKR1D1 gene.</p><p><b>CONCLUSION</b>Congenital bile acid synthesis disorder should be suspected when a neonate has presented with jaundice, elevated bilirubin and transaminase, normal or reduced TBA and γ -GT. Genetic testing and urine mass spectrometry analysis can diagnose congenital bile acid synthesis disorder. Early therapy is crucial to patients with congenital bile acid synthesis disorder.</p>
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Objective To assess the safety, effectiveness and predictive factors of endoscopic balloon dilatation for the treatment of esophageal stricture and esophageal achalasia in children. Methods 28 patients with esophageal stricture and esophageal achalasia treated by endoscopic balloon dilatation from January 2012 to November 2014 were included. All the patients were divided into two groups, 22 in group A (esophageal stricture) and 6 in group B (esophageal achalasia). All procedures were performed under tracheal intubation and intravenous anesthesia using the 3rd grade controlled radial expansion (CRE) balloon with gastroscope. Outcomes, including success, complications and recurrence data were recorded, and predictors for outcomes were analyzed. Results A total of EBD 57 sessions (1 to 5 per patient, 2.00 ± 1.15) were performed on 28 patients in this study. 22 patients were diagnosed with esophageal stricture (78.57%) and 6 with esophageal achalasia (21.43%). The median age was 25 months (range 0 ~ 150), and female/ male ratio was 12/16. EBD was successful in all the 28 cases. The total success rate was 100.00%. Complications occurred in 6 patients during the dilatation, and no complication in 22 patients. Completely remission of symptoms was seen in 82.14% cases (n = 23), relief in 14.28% (n = 4), non-response in 3.57% (n = 1), and recurrence in 3.57% (n = 1). The stricture diameter before EBD was (6.28 ± 1.77) mm (range 3.0 ~ 10.0 mm), and it was (10.85 ± 2.51) (range 6 ~ 15 mm) after the last EBD. The difference was significant (P 0.05). The effectiveness of EBD was significantly associated with the diameter and number of strictures (P 0.05). Conclusions The results of this study indicated that EBD under general anesthesia was an effective primary treatment in children with esophageal stricture and esophageal achalasia. The diameter and number of stricture were the most important predictive factors for successful clinical outcomes, while the interval between surgery and the first EBD was the most risk factor for EBD sessions in the patients with anastomotic esophageal strictures.
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Objective To explore the association between variation in genes related to lipid metabolism and the susceptibility of nonalcoholic fatty liver disease (NAFLD). Methods Obese children with fatty liver aged 6~18 years old were included. All of them got ultrasonic testing, routine examination and biochemical detection. In addition, the DNA of peripheral blood was extracted and the 36 target genes related to lipid metabolism were detected by next generation sequencing. Results In 368 obese children who met the inclusion criteria, 183 children (49.7%) were detected to have NAFL . 100 children with NAFLD and 100 children without NAFLD were randomly selected from obese children. The levels of body mass, waistline, alanine aminotransferase (ALT), triacylglycerol (TG), cholesterol, low density lipoprotein (LDL) and apolipoprotein B (ApoB) in NAFLD children were all higher than those in non-NAFLD children, and there were significant differences (P all0.05). The levels of bilirubine in the two groups were within normal range. Logistic regression analysis showed that the genes of MTTP rs2306986 (OR=2.70, 95%CI: 1.38~5.27) and MTTP rs3792683 (OR=7.34, 95%CI: 2.04~26.50) that encode microsomal triglyceride transfer protein (MTTP or MTP), and the mutation of rs738409 (OR=2.11, 95%CI:1.31~4.48) in gene PNPLA3 that encode patatin-like phospholipase domain-containing protein 3 are the independent risk factors for the occurrence of the disease. Conclusion Genovariation of MTTP rs2306986, MTTP rs3792683, and PNPLA3 rs738409 may increase susceptibility to NAFLD in children.
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Objective To explore fecal bacteria transplantation for the treatment of severe gastrointestinal disease caused by food allergy. Method The therapeutic process of fecal bacteria transplantation for treatment of severe food allergy gastrointestinal disease was retrospectively analyzed, and the related literature was reviewed. Results A 2-year-old boy had onset of intestinal infection and diarrhea was persistent even though he had received adequate anti-infection therapy and supportive treatment. Finally, the patient received the treatment of fecal bacteria transplantation and the symptoms were then improved. No adverse reactions were observed in 2 months of follow-up. In foreign literature, fecal bacteria transplantation in children is mainly applied to clostridium difficile infection (CDI) and inflammatory bowel disease (IBD), with efficiency of 90%- 100% and 55.6% - 100%, respectively. While in the domestic literature, fecal bacteria transplantation in children is mainly used in CDI and antibiotic associated diarrhea, and the effective rate is 100%. No serious adverse reactions were found in all the researches. Conclusion Fecal transplantation is safe and effective in the treatment of children with severe gastrointestinal disease caused by food allergy, but its application in children is not yet mature and needs more in-depth researches.
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Nonalcoholic fatty liver disease (NAFLD)is a common chronic liver disease in our country,and its incidence rate is gradually increasing and the age of onset is becoming younger. The pathogenesis of NAFLD remains unclear. Among a variety of pathogenic factors, the change in intestinal flora is closely associated with the development and progression of NAFLD. This article summarizes the mechanism of action of intestinal flora in the development and progression of NAFLD and the treatment of NAFLD by regulating intestinal flora. It is pointed out that regulation of intestinal flora and restoration of intestinal microecological balance may play an important role in delaying or inhibiting the progression of NAFLD and may become a new method for the prevention and treatment of this disease.
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<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutations in an adolescent patient affected with late-onset multiple aeyl-CoA dehydrogenase deficiency (MADD) with severe fatty liver.</p><p><b>METHODS</b>Potential mutations of the ETFDH gene were detected with polymerase chain reaction (PCR) and DNA sequencing.</p><p><b>RESULTS</b>The 13-year-and-10-month girl has presented with weakness without any other special manifestation. Laboratory tests demonstrated an elevation of myocardial enzyme levels, total cholesterol, lactic acid and abnormal serum free fatty acids. H magnetic resonance spectroscopy revealed severe fatty liver. An increase in multiple plasma acyl-carnitines was detected by gas chromatography/mass spectrometry and isobutyrylglycine in urine by screening with tandem mass spectrometry. Genetic analysis demonstrated 2 heterozygous missense mutations c.250G>A (p.Ala84Thr) and c.353G>T (p.Cys118Phe) in the ETFDH gene. The diagnosis of MADD was confirmed. The patient was given large dose of vitamin B2, which resulted in rapid clinical and biochemical improvement.</p><p><b>CONCLUSION</b>A common mutation c.250G>A and a novel mutation c.353G>T in the ETFDH gene were identified in the patient. The pathogenic role of c.353G>T (p.Cys118Phe) deserves further study. Early diagnosis of MADD and appropriate therapy is crucial for the prognosis.</p>
Subject(s)
Adolescent , Adult , Female , Humans , Infant , Male , Base Sequence , Electron-Transferring Flavoproteins , Genetics , Fatty Acids, Nonesterified , Blood , Fatty Liver , Blood , Genetics , Iron-Sulfur Proteins , Genetics , Molecular Sequence Data , Multiple Acyl Coenzyme A Dehydrogenase Deficiency , Blood , Genetics , Mutation , Oxidoreductases Acting on CH-NH Group Donors , Genetics , PedigreeABSTRACT
Objective To learn about the etiology , clinical characteristics and prognosis of infants with cholestasis jaundice. Methods The clinical data of 175 cholestatic patients were retrospectively analyzed , then the prognosis was followed-up with telephone. Results After analyzing the etiology , we found that among 175 patients , there were 42 with biliary atresia , of which 19 infants died , 4 recovered well after liver transplanta-tion , 8 had liver cirrhosis waiting for transplantation , 5 recovered well after Kasai Portoenterostomy and 6 lost contact. There were 2 patients with Bile duct dysplasia and 2 with congenital cholangiectasis and they had posi-tive outcomes. And 29 patients with Cytomegalovirus infection also had positive outcome. There were 16 patients with Heredity metabolic diseases , among which 13 patients were with Citrin protein deficiency; 10 had positive outcomes; 2 lost contact and 1 died. There were 3 patients with tyrosinemia , of which one had positive outcome;one lost contact and another got liver cirohosis waiting for liver transplantation. Four patients with TPN-related cholestasis all had positive outcomes. There were still 80 cases with unkown etiology , but 79 had positive out-comes and 1 case lost. The clinical characteristics showed that the infants with cholestatic jaundice often accom-panied by stool color changed , liver and spleen enlargement and so on , and often complicated with pneumonia , hypoalbuminemia and coagulation dysfunction and so on. Conclusion There are many etiologies for infants with cholestatic jaundice. Early diagnosis and early treatment would benefit the prognosis.
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With the increase number of children with obesity or diabetes,the incidence of nonalcoholic fatty liver diseases (NAFLD)in children becomes higher and higher,which has a strong impact on the growth of the children.As the pathologic change of NAFLD in children is mainly about the intrahepatic fatty infiltration, the determination of liver fat content plays an important role in the diagnosis and treatment of fatty liver.At pres-ent,the magnetic resonance technique for quantitative evaluation in hepatic fat fraction includes Dixon method, chemical shift imaging and magnetic resonance spectroscopy and so on.This article reviews the advances of MRI technique for quantification in children with NAFLD.
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<p><b>OBJECTIVE</b>To explore the etiology and clinical characteristics of hypoxic hepatitis (HH) in children.</p><p><b>METHOD</b>Clinical data of 7 patients with HH in Shenzhen Children's Hospital from January 2011 to March 2014 were retrospectively reviewed.</p><p><b>RESULT</b>Seven cases diagnosed as HH, age from 4 months to 11 years, were admitted to pediatric intensive care unit (PICU), and accounted for 0.32% of patients in PICU during the same period. The primary causes of HH were respiratory failure and cardiac shock caused by severe hand-foot-and-mouth disease, fulminant myocarditis, infant muggy syndrome . Serologic tests for hepatitis B virus, hepatitis C virus, as well as serum antibody and DNA for Epstein-Barr virus and cytomegalovirus were all negative. There was an increase of alanine aminotransferase (ALT) (≥20 time supper limit of normal (ULN), the highest ALT was more than 130 times ULN in all the patients, which was decreased to 2 times ULN from peak within 10 days. There was a significant relationship between ALT and aspartate aminotransferase(AST)in 3 cases(r=1.000, 1.000, and 0.833, respectively, P<0.05), ALT and lactate dehydrogenase (LDH)in 2 cases(r=1.000 and 0.886, respectively, P<0.05), ALT and blood urea nitrogen(BUN)in 1 case(r=1.000, P<0.05), and ALT and creatine kinase(CK)in 1 case(r=0.964, P<0.05). The ALT, AST and LDH returned to normal soon after the primary diseases were controlled.</p><p><b>CONCLUSION</b>Severe heart failure, hypoxemia, shock, etc. are the leading primary diseases causing HH. The sharp increase in ALT, AST and LDH is the typical laboratory manifestion in HH after the onset, which may decline to normal shortly after the treatment, sometimes complicated with reversible change in BUN or CK.</p>
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Animals , Child , Child, Preschool , Humans , Infant , Alanine Transaminase , Aspartate Aminotransferases , Creatine Kinase , Heart Failure , Hepatitis , Herpesvirus 4, Human , Hypoxia , L-Lactate Dehydrogenase , Respiratory Insufficiency , Retrospective StudiesABSTRACT
ObjectiveTo explore the clinical characteristics, treatment and prognosis of severe liver damage in children.MethodsClinical data of 55 children with severe liver damage were retrospectively analyzed.Results In 55 children (31 boys and 24 girls) aged from 28 days to 12 years, forty-five children had acute liver injury mainly caused by infectious diseases (21 cases, 53.3%), blood tumor diseases (5 cases, 11.1%), hereditary metabolic diseases (4 cases, 8.9%), and unexplained diseases (10 cases, 22.2%), ten children had chronic liver injury with decompensated cir-rhosis. Most of severe liver damage in children was caused by antipyretic drugs, traditional Chinese medicine and cold medicine, including 31 cases of acute liver injury and 4 cases of chronic liver injury. In children with acute liver injury, clinical symptoms included gastrointestinal symptoms (32 cases, 71.1%), jaundice (26 cases, 57.8%), hemorrhage (9 cases, 20.0%), multiple organ dysfunction (13 cases, 28.9%) and hepatic encephalopathy (6 cases, 13.3%). In children with chronic liver damage, clinical symptoms included abdominal distension and ascites (10 cases), jaundice (9 cases), gastrointestinal bleeding (7 cases), hepatic encephalopathy (3 cases) and multiple organ dysfunction (1 case). In 55 chil-dren, 39 children were died and the total mortality was 70.91%. In 14 cases of multiple organs dysfunction syndromes, 13 cases (92.9%) were died. All three cases of hepatic encephalopathy were died.ConclusionsInfectious diseases are the leading cause of sever liver damage in children. The most common inciting factors are antipyretic drugs, traditional Chinese medicine and cold medicine. Children with severe liver damage have a high mortality. Rational use of medicine and the concept of the prevention first should been strengthened.
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Objective To evaluate the efficacy and safety of composite milk clotting enzyme capsules in children with functional dyspepsia.Methods A multicenter,randomized,open-label clinical trial was carried out in 4Guangzhou hospitals during Feb.2012 to Mar.2013.Children with functional dyspepsia on basis of Rome Ⅲ criteria were enrolled and treated with composite milk clotting enzyme capsules.Total symptom score and drug-related adverse reactions were evaluated after one-week and two-week therapy.The treatment outcome were divided into very effective,fairly effective and ineffective according to the symptom score changes.Superiority test was done for effectiveness of the treatment based on efficacy difference by 10％ regarded as superiority.Results Two hundred and one children were enrolled.One hundred and ninety-six children completed the study as planned.After two-week therapy,better effective rate and total effective rate were 68.88％ and 87.76％,higher than those of one-week therapy (27.04％,76.02％) (U =2.935,P ＜ 0.05).The lower limits of 95 ％ confidence interval of difference in symptoms improve rate,better efficacy rate and symptom score decrease rate between two-week and one-week therapy were more than 10％,and two-week therapy was superior to one-week therapy.No significant drug-related adverse reaction was found during the study.Conclusions Composite milk clotting enzyme capsules can improve functional dyspepsia symptoms significantly.The effectiveness of two-week of treatment is better than that of one-week treatment.No obvious drug-related adverse reaction is observed.
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Objective To assess the efficacy of oral erythromycin on the functional gastrointestinal dysmotility in neonates.Methods In this double-blind,randomized,placebo controlled trial,90 neonates consecutively admitted to the neonatal intensive care unit of Shenzhen Children's Hospital from Jan 2009 to Dec 2011 were enrolled and randomly divided into low-dosage erythromycin group ( LE group,n =30 ),highdosage erythromycin group ( HE group,n =30 ) and control group ( n =30).Patients received either erythromycin ( 3 mg/kg or 10 mg/kg) or equivalent normal saline with oral or nasal feeding every 8 hours one time for 14 d.The time to achieve half,three-quarters,and full enteral nutrition,the time of parenteral nutrition,and hospital length of stay were compared among each group.Results The time to achieve half,three-quarters,and full enteral nutrition in HE group [ ( 3.0 ± 0.5 ) d,( 6.2 ± 0.7 ) d,( 8.2 ± 1.0 ) d ] and in LE group [(6.2±0.5) d,(8.3 ±0.6) d,(10.6 ±1.1) d] were shorter than that in control group [(8.1 ±0.4) d,( 13.5 ± 1.0) d,( 15.7 ± 1.2) d] ( P ＜ 0.05 ).The duration of parenteral nutrition [ ( 14.2 ± 1.4) d vs (9.3 ± 1.2) d vs (7.8 ± 1.1 ) d ] and hospital length of stay [ ( 13.0 ± 1.4 ) d vs ( 8.1 ± 0.8 ) d vs ( 6.8 ±0.7) d] were significantly prolonged in control group compared with LE and HE groups,and there were significant differences among the three groups ( P ＜ 0.05).The incidence of liver injury and septicemia during the treatment of erythromycin were similar between HE group and LE group,but it was significantly lower than control group.No serious adverse effect such as prolongation of QT intervals,dysrhythmia associated with erythromycin treatment was found.Conclusion Oral erythromycin can be considered as a treatment for neonates with functional gastrointestinal dysmotility who fail to establish adequate enteral nutrition,and highdosage oral erythromycin is more effective than low-dosage.