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World Journal of Clinical Cases 2021年第35期9卷 11036-11042页

作者： Ka-Na wang Qing-Qing Chen Yi-lin Zhu chun-lin wang Department of Pediatrics The First Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain *** this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature *** SUMMARY The proband was raised as a *** infancy,she was first referred to hospital with a right inguinal *** revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal *** diagnostic workup detected a 46,XY karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY *** analysis revealed the excised tissue to be *** years later,she was admitted to our hospital with a lack of breast *** pubic hair and breasts were Tanner stage *** had normal female external *** hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin *** two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>*** vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>T mutation *** This case of CAIS was caused by an AR variant(c.2678C>T).Functional studies showed impaired nuclear translocation ability of the mutant protein.

关键词： Androgen insensitivity syndrome 46 XY disorders of sex development Variants Androgen receptor gene Ligand-binding domain Case report

Congenital biliary atresia caused by GPC1 gene mutation in Chinese siblings:A case report

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World Journal of Clinical Cases 2023年第3期11卷 629-634页

作者： Yuan-Mei Kong Ke Yuan chun-lin wang Department of Pediatrics The First Affiliated Hospital of Zhejiang UniversityHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown *** outcome is often liver transplantation or *** the etiology of CBA is of great significance for prognosis,treatment,and genetic *** SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver *** discharge,the patient was followed *** condition was controlled by oral drugs,and the patient’s condition was *** CBA is a complex disease with a complex *** the etiology is of great clinical importance for treatment and *** case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary ***,its specific mechanism needs to be confirmed by further research.

关键词： Congenital biliary atresia Jaundice Etiology GPC1 Liver transplantation Case report

Treatment and five-year follow-up of type A insulin resistance syndrome:A case report

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World Journal of Clinical Cases 2022年第8期10卷 2522-2528页

作者： Yong-Hua Chen Qing-Qing Chen chun-lin wang Department of Pediatrics the First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Type A insulin resistance syndrome(TAIRS)is a rare disorder characterized by severe insulin resistance due to defects in insulin receptor *** specific drugs are available for the treatment of *** report a case of TAIRS successfully treated with pioglitazone and flutamide for 5 *** SUMMARY We present the rare case of a female patient aged 11 years and 9 mo with type A insulin resistance and an INSR heterozygous mutation(c.3614 C>T),who was treated with a combination of pioglitazone and *** treatment regimen reduced hemoglobin A1 c,fasting insulin and androgen *** Pioglitazone attenuated insulin resistance in this patient with TAIRS,and flutamide ameliorated masculinization.

关键词： Type A insulin resistance syndrome Treatment Pioglitazone Flutamide Case report

Pathogenesis of non-alcoholic fatty liver disease in children and adolescence: From “two hit theory” to “multiple hit model”

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World Journal of Gastroenterology 2018年第27期24卷 2974-2983页

作者： Yan-Lan Fang Hong Chen chun-lin wang Li Liang Department of Pediatrics The First Affiliated Hospital College of Medicine Zhejiang University College of Medicine Zhejiang University

Nonalcoholic fatty liver disease(NAFLD) has become the dominant form of chronic liver disease in children and adolescents with the increasing prevalence of obesity worldwide. NAFLD represents a wide spectrum of conditions, ranging from fatty liver-which generally follows a benign, non-progressive clinical course-to non-alcoholic steatohepatitis, a subset of NAFLD that may progress to cirrhosis and end-stage liver disease or liver carcinoma. The underlying pathophysiological mechanism of "pediatric" NAFLD remains unclear, although it is strongly associated with obesity and insulin resistance. In this review we provide a general overview on the current understanding of NAFLD in children and adolescents, which underpins practice, enabling early diagnosis and appropriate therapeutic intervention for this life-threatening liver disease.

关键词： Non-alcoholic steatohepatitis Children Adolescents Pathogenesis Nonalcoholic fatty liver disease

Growth hormone ameliorates hepatopulmonary syndrome and nonalcoholic steatohepatitis secondary to hypopituitarism in a child:A case report

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World Journal of Clinical Cases 2022年第18期10卷 6211-6217页

作者： Xiao-Yuan Zhang Ke Yuan Yan-Lan Fang chun-lin wang Department of Pediatrics The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and *** the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis,damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease,including hepatopulmonary syndrome(HPS).HPS has limited treatment and poor *** SUMMARY A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years *** craniotomy was performed with total resection via the corpus callosum approach,and the tumor at the base was approximately 3.5 cm×3.5 cm×4.0 *** 1 year postoperatively,she exhibited abdominal distension and weakness,and the laboratory tests revealed fatty liver ***,she had not visited the outpatient clinic for 2 *** years ago,she developed decreased activity endurance,severe cyanosis,chest tightness,wheezing,and intermittent and recurrent low fever after mild physical *** ultrasonography,liver biopsy,and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies,indicating *** 1 year of treatment with recombinant human growth hormone,the liver function and oxygenation improved;she did not undergo liver *** Craniopharyngioma surgery can easily cause hypopituitarism,which can lead to nonalcoholic steatohepatitis and HPS in *** growth hormone therapy is important to improve the prognosis of these diseases.

关键词： Craniopharyngioma Nonalcoholic fatty liver disease Hypopituitarism Hepatopulmonary syndrome Growth hormone Children Case report

A rabbit model of pediatric nonalcoholic steatohepatitis: The role of adiponectin

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World Journal of Gastroenterology 2009年第8期15卷 912-918页

作者： Jun-Fen Fu Yan-Lan Fang Li Liang chun-lin wang Fang Hong Guan-Ping Dong Department of Endocrinology The Children's Hospital of Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China

AIM： To create a rabbit model of pediatric nonalcoholic steatohepatitis （NASH） and to evaluate the role of adiponectin in the process. METHODS： Thirty-two specific pathogen-free male New Zealand rabbits were divided randomly into three groups：（1） the normal control group （n = 10） was fed with standard diet for 12 wk; （2） the model group A （n = 11）; and （3） model group B （n = 11） were fed with a highfat diet （standard diet ＋ 10% lard ＋ 2% cholesterol） for 8 and 12 wk, respectively. Hepatic histological changes were observed and biochemical parameters as well as serum levels of adiponectin, interleukin （IL）-6, IL-10 and tumor necrosis factor （TNF）-α were measured. RESULTS： Typical histological hepatic lesions of NASH were observed in both model groups described as liver steatosis, liver inflammatory infiltration, cytologic ballooning, perisinusoidal fibrosis and overall fibrosis. Compared with the normal control group, there were significant increases in model groups A and B in weight gain （1097.2 ± 72.3, 1360.5± 107.6 vs 928.0 ±58.1, P 〈 0.05, P 〈 0.01）, liver weight （93.81±6.64, 104.6±4.42 vs 54.4±1.71, P 〈 0.01）, Lg （ALT）（1.9±0.29, 1.84± 0.28 vs 1.60±0.17, P 〈 0.01）, and Lg （TG）（1.03 ±0.24, 1.16 ±0.33 vs 0.00 ±0.16, P 〈 0.01）. Weight gain was much more in model group B than in model group A （1360.5± 107.6 vs 1097.2 ±72.3, P 〈 0.05）. But, there was no significant difference between the two groups concerning the other indexes. Pro-inflammatory cytokines （IL-6 and TNF-α） increased in model group B compared with that of control and model group A （IL-6：1.86±0.21 vs 1.41 ±0.33, 1.38± 0.42, P 〈 0.01; TNF-α： 1.18±0.07 vs 0.66 ±0.08, 0.86 ±0.43, P 〈 0.01, P 〈 0.05）, whereas serum adiponectin and IL-10 decreased in model groups compared with that in the control （adiponectin： A： 21.87±4.84 and B： 21.48 ±4.60 vs 27.36 ±7.29, P 〈 0.05. IL-10： A： 1.72± 0.38 and B： 1.83 ±0.39 vs 2.26±0.24, P 〈 0.01）. Lg （TC） and the degree of liver fatty infiltration was an independent determi

关键词： Nonalcoholic steatohepatitis Pediatricanimal model Adiponectin Interleukin 6 Tumornecrosis factor

Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia:A case report

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World Journal of Clinical Cases 2020年第17期8卷 3859-3866页

作者： Xiao-Mei Hu Ke Yuan Hong Chen chun Chen Yan-Lan Fang Jian-Fang Zhu Li Liang chun-lin wang Department of Pediatrics The First Affiliated Hospital of Zhejiang UniversityHangzhou 310003Zhejiang ProvinceChina

BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and performed a literature *** SUMMARY The proband was a 5-year-old *** was admitted to our hospital due to a recurrent cough and a fever that had persisted for a *** had a history of multiple respiratory infections and *** was no immunodeficiency or recurrent infection history among his family *** was characterized as follows:Immunoglobulin(Ig)A,90.0 mg/dL(90-450 mg/dL);IgG,20.0 mg/dL(800-1800 mg/dL);and IgM,18.0 mg/dL(60-280 mg/dL).Notably,the assessment of IgG subtypes revealed the following very low levels:Subtype 1,0.26 g/L(3.62-12.28 g/L);subtype 2,0.10 g/L(0.57-2.9 g/L);subtype 3,0.009 g/L(0.129-0.789 g/L);and subtype 4,0.003 g/L(0.013-1.446 g/L).Cellular immunological test results were as follows:CD3,74.6%(50%-84.0%);CD4,47.3%(27.0%-51.0%);and CD8,24.9%(15.0%-44.0%).A de novo hemizygous deletion in BTK was detected:c.902_c.904delAAG/*** levels of the mutant BTK were similar to those of the wild-type gene,though overexpression resulted in markedly reduced levels of mutant BTK(9.49%±1.58%),relative to the wildtype BTK(75.8%±2.98%,Plinked agammaglobulinemia was attributed to a de novo hemizygous deletion mutation in BTK(c.902_c.904delAAG/p.E301del).The mutation resulted in markedly reduced BTK protein stability in vitro.

关键词： Agammaglobulinemia Bruton’s tyrosine kinase Mutation Immunodeficiency Case report

Effect of lifestyle intervention on non-alcoholic fatty liver disease in Chinese obese children

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World Journal of Gastroenterology 2008年第10期14卷 1598-1602页

作者： chun-lin wang Li Liang Jun-Fen Fu Chao-chun Zou Fang Hong Jin-Zheng Xue Jin-Rui Lu Xiang-Min Wu Department of Endocrinology The Children's Hospital of Zhejiang University School of Medicine Hangzhou 310003 Zhejiang Province China Nuote Nutrient Centre Hangzhou 310003 Zhejiang Province China

AIM: To investigate the effect of lifestyle intervention on non-alcoholic fatty liver disease (NAFLD) in Chinese obese children. METHODS: Seventy-six obese children aged from 10 to 17 years with NAFLD were enrolled for a one-month intervention and divided randomly into three groups. Group1, consisting of 38 obese children, was an untreated control group without any intervention. Group 2, consisting of 19 obese children in summer camp, was strictly controlled only by life style intervention. Group 3, consisting of 19 obese children, received oral vitamin E therapy at a dose of 100 mg/d. The height, weight, fasting blood glucose (FBG), fasting serum insulin (FINS), plasma alanine aminotransferase (ALT), aspartate aminotransferase (AST), triglyceride (TG), total cholesterol (TCHO) and homeostasis model assent- insulin resistance (HOMA-IR) were measured at baseline and after one month. All patients were underwent to an ultrasonographic study of the liver performed by one operator who was blinded to the groups. RESULTS: The monitor indices of BMI, ALT, AST, TG, TCHO and HOMA-IR were successfully improved except in group 1. BMI and ALT in group 2 were reduced more significantly than in group 3 (2.44 ± 0.82 vs 1.45 ± 0.80, P = 0.001; 88.58 ± 39.99 vs 63.69 ± 27.05, P = 0.040, respectively).CONCLUSION: Both a short-term lifestyle intervention and vitamin E therapy have an effect on NAFLD in obese children. Compared with vitamin E, lifestyle intervention is more effective. Therefore, lifestyle intervention should represent the first step in the management of children with NAFLD.

关键词： Non-alcoholic fatty liver disease Lifestyle intervention Vitamin E Obese Children

New mutation in EPCAM for congenital tufting enteropathy:A case report

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World Journal of Clinical Cases 2020年第20期8卷 4975-4980页

作者： Yan-Qiong Zhou Guo-Sheng Wu Yuan-Mei Kong Xiao-Yuan Zhang chun-lin wang Department of Pediatrics The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina Department of Colorectal and Anal Surgery The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

BACKGROUND Congenital tufting enteropathy(CTE)is a rare cause of diarrhea in ***,it can result in early-onset of chronic diarrhea and failure to *** with this disease have to depend on total parenteral nutrition(TPN),and eventually small intestine *** epithelial cell adhesion molecule(EPCAM)gene was identified to be associated with ***,we present a case of an infant with CTE due to a mutation not reported in the literature *** SUMMARY A 1-year and 7-mo infant boy exhibited intractable watery diarrhea and mushy stool within 1 wk after birth,for which he had required medical treatment and hospitalization several *** sister presented similar symptoms and died at the age of *** admission,his body weight was 5700 g(-4.8 SDS)and measured 66 cm(-5.4 SDS)in ***,he cannot speak or *** exhibited mild anemia,hypocalcemia,hypomagnesemia,and an infection in the upper respiratory *** sparse and vacuolar degeneration of epithelial cells were reported by small intestine ***-exome sequencing showed a novel homozygous splice mutation(c.657+1[IVS6]G>A)in the EPCAM *** was treated with TPN and recombinant human growth *** 2 mo,his body weight was up to 8500 g and he has been waiting for small bowel *** CTE is rare but *** with CTE require rapid diagnosis and therapy to improve their survival.

关键词： Congenital tufting enteropathy Congenital diarrhea Failure to thrive Children Case report

Synthesis of platelet-activating factor and its receptor expression in Kupffer cells in rat carbon tetrachloride-induced cirrhosis

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World Journal of Gastroenterology 2008年第5期14卷 764-770页

作者： Yin-Ying Lu chun-Ping wang lin Zhou Yan Chen Shu-Hui Su Yong-Yi Feng Yong-Ping Yang Department of Gastroenterology 302 Hospital of Chinese PLA Beijing 100039 China

AIM:To determine the platelet-activating factor (PAF) synthesis and its receptor expression in Kupffer cells in rat carbon tetrachloride-induced cirrhosis. METHODS:Kupffer cells, isolated from the livers of control and CCl4-induced cirrhotic rats, were placed in serum-free medium overnight. PAF saturation binding, ET-1 saturation and competition binding were assayed. ET-1 induced PAF synthesis, mRNA expression of PAF, preproendothelin-1, endothelin A (ETA) and endothelin B (ETB) receptors were also determined. RESULTS:A two-fold increase of PAF synthesis (1.42 ± 0.14 vs 0.66 ± 0.04 pg/μg DNA) and a 1.48-fold increase of membrane-bound PAF (1.02 ± 0.06 vs 0.69 ± 0.07 pg/μg DNA) were observed in activated Kupffer cells of cirrhotic rats. The application of ET-1 to Kupffer cells induced PAF synthesis in a concentration-dependent manner in both cirrhotic and normal rats via ETB receptor, but PAF synthesis in the activated Kupffer cells was more effective than that in the normal Kupffer cells. In activated Kupffer cells, PAF receptor expression and PAF binding capacity were markedly enhanced. Activated Kupffer cells raised the [125I]-ET-1 binding capacity, but changed neither the affinity of the receptors, nor the expression of ETA receptor. CONCLUSION:Kupffer cells in the course of CCl4-induced cirrhosis are the main source of increased PAF. ET-1 is involved endogenously in stimulating the PAF synthesis in activated Kupffer cells via ETB receptor by paracrine. ETA receptor did not appear in activated Kupffer cells, which may exacerbate the hepatic and extrahepatic complications of cirrhosis.

关键词： Platelet activating factor Kupffer cells Receptor Cirrhosis