Chinese Hepatolgy

Clinical and pathological features and gene mutation analysis in 12 Chinese patients with glycogen storage disease type Ⅸ

WANG Pu, DONG Yi, XU Zhi-qiang, CHEN Da-wei, WANG Fu-chuan, GAN Yu, WANG Li-min, YAN Jian-guo, CAO Li-li, LI Ai-qin, ZHU Shi-shu,ZHANG Min

2018, 23(9): 764-768.

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Objective To analyze the clinical, pathological features and gene mutations of glycogen storage disease type Ⅸ (GSD Ⅸ) for improving clinical understanding of the disease. Methods Data of 12 pediatric patients who had been genetically diagnosed of GSD Ⅸ and hospitalized in our hospital from October 2015 to October 2017 were analyzed retrospectively. Results According to gene mutations, 12 patients were divided into 3 types, including 10 boys diagnosed of GSD Ⅸa, 1 girl diagnosed of GSD Ⅸb and 1 girl diagnosed of GSD Ⅸc. The median onset age was 2.1 years old. All patients had elevated transaminase levels and hepatomegaly (100%, 12/12). Most patients had different degrees of hypoglycemia (83.3%, 10/12) and growth retardation (58.3%, 7/12). Some patients were with positive urine ketone bodies (50%, 6/12), hypertriglyceridemia (25%, 3/12) and hyperlactacidemia (33.3%, 4/12). All patients were with mild inflammation (G1-2) histologically, among which 8 (66.7%) were in S1-2, 3 (25%) were in S2-3, and 1 (8.3%) was in S4. All cases (12/12) were positive stained with periodic acid Schiff reaction. There were 13 phosphorylase kinase (PHK) gene mutations detected in the 12 patients, including 11 missense mutation, 1 deletion mutation and 1 shear mutation. Five novel mutations were identified, including 3 in PHKA2 (p.F1199fs, p.Q347X and p.s250L), 1 in PHKB (c.1776+1G>T) and 1 in PHKG2 (p.R309W). Raw cornstarch therapy could alleviate the symptoms in most of these patients. Conclusion GSD Ⅸ should be considered in pediatric patients with hepatomegaly and elevated transaminase levels. The accurate diagnosis and classification of GSD Ⅸ depend on genetic test. Intervention should be performed as early as possible to improve the prognosis

Pathological characteristics of the overlap syndrome of autoimmune hepatitis and primary biliary cholangitis

YAO Ying, GAO Jian-peng, WANG Hui, ZHANG Zhi-bo, ZHAI Hui-qin, XU Zhi-yuan

2018, 23(9): 769-771.

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Objective To analyze the histopathological changes of autoimmune hepatitis (AIH)-primary biliary cholangitis (PBC) overlap syndrome and to improve the understanding of its clinical and pathological features.Methods The pathological changes of liver tissue in 10 patients with AIH-PBC overlap syndrome were retrospectively analyzed. Results The AIH-PBC overlap syndrome was more common in middle-aged women (80%) presenting with clinical and pathological characteristics of both AIH and PBC. Interface hepatitis, bridging necrosis and central confluence necrosis were all observed. The inflammatory activity of the liver tissue was from moderate to severe and fibrosis score was from S2 to S4. At the same time, different degrees of small bile duct lesions were observed, including 3 cases with obvious bile ducts decrease and 2 cases with small bile duct hyperplasia.Conclusion Diagnosis of AIH-PBC overlap syndrome should be based on the clinical presentation and changes in biochemistry, immunology and histology. The overlap syndrome has the histopathological features of both AIH and PBC, with main histological changes of interface hepatitis, bridging necrosis and small bile duct reduction.

Clinical effect of direct-acting antiviral agents for chronic hepatitis C

YIN Yan-xia, MENG Zi-qiang, LI Xiao-guang, YU Jian-wu, LI Shu-chen, XU Chun-hai

2018, 23(9): 772-774.

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Objective To evaluate the clinical efficacy and safety of direct-acting antiviral agents (DAAs) in patients with chronic hepatitis C.Methods A total of 106 patients with chronic hepatitis C were enrolled in this study. Age of the patients were from 29 to 74 years old with a median age of 56. Hepatitis C virus (HCV) RNA was detected in all patients, with the viral load ranging from 5.955e × 104 to 1.688e × 108 IU/ml. Among the 106 patients, 62 were genotype 1b and 44 were genotype 2a. Moreover, 11 patients with decompensated cirrhosis were all infected with HCV genotype 1b. All patients were treated with sofosbuvir (SOF) and daclatasvir (DCV) for 12 weeks, and ribavirin was added in patients with HCV genotype 1b and cirrhosis. Patients with HCV genotype 1b and decompensated liver cirrhosis could not tolerate ribavirin, so their treatment was extended to 24 weeks. HCV RNA, liver function, safety and adverse events were observed during and after treatment. Results Of all the patients, 58.5% achieved super-rapid virological response at week 1 of treatment, 99% achieved complete virological response at weeks 4 of treatment, and 99% achieved viral response at the end of treatment. After treatment, levels of alanine aminotransferase and aspartate aminotransferase were normalized (P<0.05). Level of albumin was increased in cirrhosis group (P<0.05), while level of total bilirubin showed no statistical difference (P>0.05). The rate of sustained virological response (SVR) at weeks 12 and week 24 after treatment was high ( both were 99%). Only slight adverse effects appeared such as gastrointestinal discomfort (2 cases), headache (5 cases), and fatigue with bloating (10 cases).Conclusion Combined therapy of SOF and DCV for patients with HCV is safe and effective. However, the long-term therapeutic efficacy needs to be further investigated.

Investigation of occult hepatitis B virus infection

XIA Li-fang, GUAN Bo-wen, SHAN Yao-bin, LI Kun-peng, WANG Tong, GUO Tong-sheng

2018, 23(9): 775-777.

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Objective To investigate occult hepatitis B virus infection (OBI).Methods From August 2016 to March 2017, 1570 serum samples were collected continuously from hepatitis B surface antigen (HBsAg) negative patients who had at least any other positive marker in hepatitis B virus (HBV) markers. Patients with only HBsAb positive were excluded. High sensitive nucleic acid detection, full-automatic magnetic beads nucleic acid extraction and fluorescence quantitative polymerase chain reaction were used for HBV DNA quantitative detection. According to the instructions, HBV DNA >20 IU/mL was defined as positive. Meanwhile, Roche CAP/Prep HBV detection system was used to check the results. Results There were 71 HBV DNA-positive specimens in 1570 specimens, of which 49 were males and 22 were females. All cases were divided into 5 groups according to the diagnosis, including 506 cases of hepatitis, 399 cases of liver cirrhosis, 41 cases of liver space occupying lesion, 188 cases of liver cancer and 436 cases of other diagnoses. Of the 71 HBV DNA positive specimens, there were 31 cases of hepatitis (6%), 7 cases of liver cirrhosis (2%), 3 cases of liver space occupying lesion (7%), 16 cases of liver cancer (8%) and 14 other cases (3%). Moreover, 7 of the 71 HBV DNA positive specimens were from health examination.Conclusion OBI can occur in the population especially develop liver occupying lesion and liver cancer, and its screening should also be done in healthy people.

Therapeutic efficacy and safety of QZSWF in the treatment of non-alcoholic steatohepatitis

CHAI Hai-sheng, ZHANG Qin

2018, 23(9): 778-781.

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Objective To assess the clinical efficacy and safety of QZSWF in the treatment of non-alcoholic steatohepatitis (NASH).Methods A total of 138 NASH patients were randomly divided into observation group (94 patients) and control group (44 patients). Besides lifestyle interventions, patients were treated with QZSWF granule (polygonum cuspidatum, hawthorn , cassia seed) and placebo (10% QZSWF + 90% dextrin component), respectively. Clinical indicators of patients before and after treatment were observed. Adverse reactions in both groups were recorded. Results After 6 months of treatment, the liver function and hepatic steatosis of observation group significantly improved than those of control group (P<0.05). Furthermore, no severe adverse events were observed.Conclusion QZSWF has short-term benefits in improving hepatic steatosis and liver function showing high safety with little adverse reactions. It is worthy of clinical application.

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