Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.

Abstract:

OBJECTIVE:LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptoms may present in infancy if there is complete loss of lysosomal acid lipase or in early childhood or adulthood when there is partial loss. The purpose of the present study is to review the literature for pediatric cases of CESD to better understand the phenotype of CESD. METHODS:A PubMed search of all English-language publications from 1966 through June 2012 for pediatric CESD case reports using the following key words CESD, fatty liver, and NAFLD was performed. All of the cases were reviewed and information regarding age, sex, presenting symptoms, and pertinent laboratory tests were recorded. RESULTS:Seventy-one cases were culled from 39 published case reports. Nearly two-thirds of these patients presented with their first symptoms when they were younger than 5 years. Hepatomegaly and splenomegaly were common features. Serum transaminases and lipids were often elevated. Gastrointestinal symptoms were noted in approximately one-third of cases. Two-thirds of patients had liver fibrosis. CONCLUSIONS:CESD has an estimated incidence as high as 1 in 40,000, which means that it is presently underdiagnosed. Education about common symptoms of CESD as well as a higher level of suspicion for screening for CESD will lead to earlier diagnosis. New treatments for CESD including possible enzyme replacement therapy make early diagnosis especially important.

authors

Zhang B,Porto AF

doi

10.1097/MPG.0b013e31828b36ac

subject

Has Abstract

pub_date

2013-06-01 00:00:00

pages

682-5

issue

6

eissn

0277-2116

issn

1536-4801

journal_volume

56

pub_type

杂志文章,评审
  • Acetylcholinesterase activity in rectal biopsies: an assessment of its diagnostic value in Hirschsprung's disease.

    abstract::Acetylcholinesterase (AChE) activity was measured in rectal suction biopsies from 392 patients investigated for Hirschsprung's disease (HD). Results in HD (2.7-23.7 RU; n = 37) were not clearly differentiated from those in patients without HD (0.6-18.0 RU; n = 355). Sample instability was shown not to be a significant...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:

    authors: Wells FE,Addison GM

    更新日期:1986-11-01 00:00:00

  • Impact of early and high amino acid supplementation on ELBW infants at 2 years.

    abstract:OBJECTIVE:The aim of the present study was to examine the effects of early and high intravenous (IV) amino acid (AA) supplementation on growth, health, and neurodevelopment of extremely-low-birth-weight (ELBW) infants throughout their first 2 years of life. METHODS:Infants were prospectively randomized in a double-mas...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MPG.0b013e31824887a0

    authors: Blanco CL,Gong AK,Schoolfield J,Green BK,Daniels W,Liechty EA,Ramamurthy R

    更新日期:2012-05-01 00:00:00

  • Growth and change in blood haemoglobin concentration among underweight Malawian infants receiving fortified spreads for 12 weeks: a preliminary trial.

    abstract:OBJECTIVE:Fortified spreads (FSs) have proven effective in the rehabilitation of severely malnourished children. We examined acceptability, growth and change in blood haemoglobin (Hb) concentration among moderately underweight ambulatory infants given FS. METHODS:This was a randomised, controlled, parallel-group, inve...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/01.mpg.0000235981.26700.d3

    authors: Kuusipalo H,Maleta K,Briend A,Manary M,Ashorn P

    更新日期:2006-10-01 00:00:00

  • Changing patterns of free fatty acids in breast milk during storage.

    abstract::Milk was collected from eight mothers. Total lipid and free fatty acids were determined on collection. The samples were divided into aliquots and stored at 25, 4, or -11 degrees C for 6, 12, 24, or 48 h. Additional samples were stored at -11 or -70 degrees C for 1, 2, 4, 6, or 8 weeks. The effect of temperature, lengt...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198709000-00019

    authors: Lavine M,Clark RM

    更新日期:1987-09-01 00:00:00

  • Mass Screening for Celiac Disease Among School-aged Children: Toward Exploring Celiac Iceberg in Saudi Arabia.

    abstract:OBJECTIVES:We conducted this mass screening study to determine the prevalence of celiac disease (CD) and characterize the celiac iceberg among Saudi pediatric population in Riyadh, the capital city of Saudi Arabia. METHODS:During the study period (January 2014-June 2016), we have conducted a cross-sectional, mass scre...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001681

    authors: Al-Hussaini A,Troncone R,Khormi M,AlTuraiki M,Alkhamis W,Alrajhi M,Halal T,Fagih M,Alharbi S,Bashir MS,Chentoufi AA

    更新日期:2017-12-01 00:00:00

  • Autologous intestinal reconstructive surgery to reduce bowel dilatation improves intestinal adaptation in children with short bowel syndrome.

    abstract:OBJECTIVES:Intestinal failure (IF) is a common consequence of neonatal small bowel pathology. In our experience, bowel dilatation is often responsible for the IF state in patients who fail to adapt despite adequate residual bowel length. The aim of the present study was to investigate the role of surgery to reduce bowe...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e318287de8d

    authors: Almond SL,Haveliwala Z,Khalil B,Morabito A

    更新日期:2013-06-01 00:00:00

  • Probiotics in preterm infants: a controversial issue.

    abstract::Current research is directed toward innovative dietary compositions that exert specific effects on health promotion and reducing the risk of diseases. For example, the demonstration that the gut microbiota is an important constituent in the intestine's mucosal barrier has led to new therapeutic strategies for infectio...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/01.mpg.0000302970.67997.db

    authors: Isolauri E

    更新日期:2007-12-01 00:00:00

  • Subacute nonsuppurative cholangitis (cholangitis lenta) in pediatric liver transplant patients.

    abstract:BACKGROUND:Subacute nonsuppurative cholangitis (cholangitis lenta) is an uncommon yet important histological finding in liver biopsies from pediatric liver transplant recipients. The histopathological features include proliferation of bile ductules at the edges of portal tracts, inspissated bile within dilated bile duc...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e318074c5d0

    authors: Lin CC,Sundaram SS,Hart J,Whitington PF

    更新日期:2007-08-01 00:00:00

  • Lactose malabsorption and intolerance in Uruguayan population by breath hydrogen test (H2).

    abstract::This study of 200 Uruguayans between 0 and 86 years old was designed to determine the prevalence of lactose malabsorption. Lactose intolerance is defined as a clinical syndrome of abdominal pain, diarrhea, flatulence, and bloating after the ingestion of a standard lactose tolerance test dose (2 g of lactose per kilogr...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198705000-00012

    authors: Maggi R,Sayagues B,Fernandez A,Romero B,Barusso P,Hernandez C,Magariños M,Mendez G,Dilascio C,Martell M

    更新日期:1987-05-01 00:00:00

  • Acute phase proteins in chronic inflammatory bowel disease in childhood.

    abstract::The serum levels of five acute phase proteins (APP) were measured in 18 children with Crohn's Disease (CD) or ulcerative colitis (UC) and in two control groups. The levels of C-reactive protein, alpha 1-acid glycoprotein, alpha 1-antitrypsin, C9, and Factor B were significantly raised in patients with CD and UC with g...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198201020-00007

    authors: Campbell CA,Walker-Smith JA,Hindocha P,Adinolfi M

    更新日期:1982-01-01 00:00:00

  • Insufficient Body Weight of Adults Born With Esophageal Atresia.

    abstract:OBJECTIVES:Impaired growth has been reported in children born with esophageal atresia (EA). Their nutritional fate at adulthood remains uncertain though. Our objectives were to determine the body mass index (BMI) of adult patients with EA followed up from 2009 to 2011 in the EA clinic of a university-affiliated hospita...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000000961

    authors: Presse N,Taillefer J,Maynard S,Bouin M

    更新日期:2016-03-01 00:00:00

  • Cytokine release of peripheral blood mononuclear cells in children with chronic hepatitis B virus infection.

    abstract:BACKGROUND:Immune response to hepatitis B virus (HBV) antigens or mitogens in Asian children with chronic HBV infection who are mainly perinatally infected has not been studied in connection with the production of various cytokines, although these patients are considered to be less responsive to antiviral therapy. MET...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199911000-00013

    authors: Hsu HY,Chang MH,Ni YH,Lee PI

    更新日期:1999-11-01 00:00:00

  • Long-term therapeutic efficacy of lamivudine compared with interferon-alpha in children with chronic hepatitis B: the younger the better.

    abstract:OBJECTIVES:To assess and compare the long-term therapeutic response to lamivudine compared with interferon-alpha (IFN-alpha) in children with chronic hepatitis B. METHODS:A total of 40 children (27 male; age, 1.3-18 y, mean, 7.7 y) with chronic hepatitis B who received lamivudine for at least 12 months were followed f...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/01.mpg.0000243439.47334.4e

    authors: Choe BH,Lee JH,Jang YC,Jang CH,Oh KW,Kwon S,Hyun MC,Ko CW,Lee KS,Lee WK

    更新日期:2007-01-01 00:00:00

  • A New Domain Structure for the IMPACT-III Health-related Quality of life Tool for Pediatric Inflammatory Bowel Disease.

    abstract:BACKGROUND:The IMPACT-III measures health-related quality of life (HRQOL) in pediatric patients with Inflammatory Bowel Disease (IBD). The original IMPACT domain structure was developed based on expert opinion and was not psychometrically validated. This study developed a new domain structure based on the current IMPAC...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000002824

    authors: Grant A,MacIntyre B,Kappelman MD,Otley AR

    更新日期:2020-10-01 00:00:00

  • Dexamethasone changes the composition of insulin-like growth factor binding proteins in the newborn mouse ileum.

    abstract:BACKGROUND:Early postnatal glucocorticoid exposure accelerates the maturation of the bowel mucosa but results in bowel wall thinning in the newborn mouse ileum and increases the risk of focal ileal perforation in extremely premature infants. We have previously demonstrated a redistribution of insulin-like growth factor...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-200210000-00014

    authors: Gordon PV,Moats-Staats BM,Stiles AD,Price WA

    更新日期:2002-10-01 00:00:00

  • Intensive nutritional support and remedial surgical intervention for extreme short bowel syndrome.

    abstract::Management of extreme short bowel syndrome (SBS) has changed dramatically over the last 20 years with notable improvements in survival and quality of life in patients with this syndrome. A review of our institution's medical records over a 12-year period (1980-1992) revealed 32 patients with < 100 cm (range, 14-94; me...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199410000-00006

    authors: Chaet MS,Farrell MK,Ziegler MM,Warner BW

    更新日期:1994-10-01 00:00:00

  • Antibiotic Susceptibility and Therapy in Central Line Infections in Pediatric Home Parenteral Nutrition Patients.

    abstract:BACKGROUND:Patients receiving home parenteral nutrition (HPN) are at high-risk for central line-associated bloodstream infections (CLABSI). There are no published management guidelines, however, for the antibiotic treatment of suspected CLABSI in this population. Historical microbiology data may help inform empiric ant...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000002506

    authors: Raphael BP,Fournier G,McLaughlin SR,Puder M,Jones S,Flett KB

    更新日期:2020-01-01 00:00:00

  • North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on Entrustable Professional Activities: Development of Pediatric Gastroenterology, Hepatology, and Nutrition Entrustable Professional Activities.

    abstract::Quality training in pediatric gastroenterology, hepatology, and nutrition is essential for the future of our specialty from advancing the science through research to providing clinical care for children with gastrointestinal, hepatic and nutritional disorders. As educational theory has developed, both the American Boa...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000002684

    authors: Sauer CG,Robson J,Turmelle YP,Cerezo CS,Loomes KM,Huang JS,Quiros-Tejeira RE,Benkov KJ,Narkewicz MR,Leichtner A,Weinstein T

    更新日期:2020-07-01 00:00:00

  • Rising incidence of inflammatory bowel disease among children: a 12-year study.

    abstract:OBJECTIVE:Data suggest an increase in the incidence of pediatric inflammatory bowel disease (IBD). We examined the trend of the incidence of IBD in children. PATIENTS AND METHODS:A retrospective investigation was conducted on a cohort of children diagnosed with IBD between 1991 and 2002 who were registered in the IBD ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e3181b99baa

    authors: Malaty HM,Fan X,Opekun AR,Thibodeaux C,Ferry GD

    更新日期:2010-01-01 00:00:00

  • Breast Milk Protects Against Gastrointestinal Symptoms in Infants at High Risk for Autism During Early Development.

    abstract:OBJECTIVES:Parents of children with autism spectrum disorders (ASDs) often report gastrointestinal (GI) dysfunction in their children. The objectives of the present study were to determine whether infants at high risk for developing ASD (ie, siblings of children diagnosed as having ASD) show greater prevalence of GI pr...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000000907

    authors: Penn AH,Carver LJ,Herbert CA,Lai TS,McIntire MJ,Howard JT,Taylor SF,Schmid-Schönbein GW,Dobkins KR

    更新日期:2016-02-01 00:00:00

  • Elevated C-reactive protein and spontaneous bacterial peritonitis in children with chronic liver disease and ascites.

    abstract:OBJECTIVES:The aims of this study were to compare laboratory indices of spontaneous bacterial peritonitis (SBP) and noninfected ascites in children with chronic liver disease and to determine the infectious agents involved in SBP. METHODS:The medical records of 90 children with chronic liver disease and ascites studie...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000000177

    authors: Preto-Zamperlini M,Farhat SC,Perondi MB,Pestana AP,Cunha PS,Pugliese RP,Schvartsman C

    更新日期:2014-01-01 00:00:00

  • Breast-feeding and growth factors in preterm newborn infants.

    abstract:BACKGROUND:We analyzed the role that nutrition and the insulin-like growth factors IGF-I and IGFBP-3 play on neonatal growth. METHODS:Full-term and preterm infants with 1 and 3 weeks of postnatal life (n = 54 and n = 33, respectively) were studied. Anthropmetric variables, daily intake of energy and nutrients, and ser...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-199703000-00016

    authors: Díaz-Gómez NM,Domenech E,Barroso F

    更新日期:1997-03-01 00:00:00

  • High Levels of Decisional Conflict and Decision Regret When Making Decisions About Biologics.

    abstract:OBJECTIVES:The aim of the study was to understand the association between parents' perceptions of the decision process and the decision outcomes in decisions about the use of biologics in pediatric chronic conditions. METHODS:We mailed surveys to parents of children with inflammatory bowel disease or juvenile idiopath...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001425

    authors: Lipstein EA,Lovell DJ,Denson LA,Kim SC,Spencer C,Ittenbach RF,Britto MT

    更新日期:2016-12-01 00:00:00

  • Even small amounts of gluten cause relapse in children with celiac disease.

    abstract:BACKGROUND:Previously, a gluten challenge was customary to establish the diagnosis of celiac disease in children. There are no clear recommendations on how to perform this challenge or what markers to rely on for timing the biopsy after the challenge. The authors' aim was to monitor gluten intake, clinical symptoms, an...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-200201000-00007

    authors: Laurin P,Wolving M,Fälth-Magnusson K

    更新日期:2002-01-01 00:00:00

  • Anti-tumor Necrosis Factor-alpha Exposure Impacts Vedolizumab Mucosal Healing Rates in Pediatric Inflammatory Bowel Disease.

    abstract:BACKGROUND:Vedolizumab (VDZ) is effective for treating both adult and pediatric onset inflammatory bowel disease (IBD). Clinical outcomes, however, have been reported to be superior in patients naïve to anti-tumor necrosis factor (TNF). With the growing interest in endoscopic endpoints, we aimed to describe rates of mu...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000002556

    authors: Jossen J,Kiernan BD,Pittman N,Dubinsky MC

    更新日期:2020-03-01 00:00:00

  • Decreased interleukin-10 secretion by peripheral blood mononuclear cells in children with irritable bowel syndrome.

    abstract:BACKGROUND AND AIMS:The aim of the present study was to evaluate proinflammatory and anti-inflammatory cytokine levels in children with irritable bowel syndrome (IBS). PATIENTS AND METHODS:Thirty-five children with IBS (17 diarrhea-predominant, 7 constipation-predominant, and 11 mixed type) and 25 healthy children as ...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0b013e3181fd9816

    authors: Hua MC,Lai MW,Kuo ML,Yao TC,Huang JL,Chen SM

    更新日期:2011-04-01 00:00:00

  • Development and subsequent refinement of the inflammatory bowel disease questionnaire: a quality-of-life instrument for adult patients with inflammatory bowel disease.

    abstract:BACKGROUND:Health-related quality of life (HRQOL) describes the physical, social, and emotional attitudes and behavior of people in relation to health status. By the 1980s, HRQOL was noted to be impaired in chronic diseases but inflammatory bowel disease, had not been extensively described. METHODS:This review summari...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,评审

    doi:10.1097/00005176-199904001-00003

    authors: Irvine EJ

    更新日期:1999-04-01 00:00:00

  • Effects of loperamide on intestinal ion transport.

    abstract::The synthetic opiate loperamide (LPMD) is an antidiarrheal compound which affects both intestinal motility and the transport of water and electrolytes. We have investigated its effects on ion transport in the stripped ileal mucosa of rabbits, mounted in Ussing chambers in vitro. Addition of LPMD to serosal bathing med...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/00005176-198409000-00020

    authors: Guandalini S,Fasano A,Rao MC,Ferola A,Migliavacca M,Marchesano G,Rubino A

    更新日期:1984-09-01 00:00:00

  • Lactobacillus reuteri DSM 17938 in the Treatment of Functional Abdominal Pain in Children: RCT Study.

    abstract:OBJECTIVES:Beneficial therapeutic effect of probiotics has been reported in children with the irritable bowel syndrome (IBS) but not consistently in other functional abdominal pain-related disorders. The aim of the present study was to investigate the effect of Lactobacillus reuteri DSM 17938 in the treatment of functi...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章,随机对照试验

    doi:10.1097/MPG.0000000000001478

    authors: Jadrešin O,Hojsak I,Mišak Z,Kekez AJ,Trbojević T,Ivković L,Kolaček S

    更新日期:2017-06-01 00:00:00

  • Perianal Pediatric Crohn Disease Is Associated With a Distinct Phenotype and Greater Inflammatory Burden.

    abstract:OBJECTIVES:Data on the outcomes of children with perianal Crohn disease (pCD) are limited, although its presence is often used for justifying early use of biologics. We aimed to assess whether pCD in children is associated with more severe outcomes as found in adults. METHODS:Data were extracted from the ImageKids dat...

    journal_title:Journal of pediatric gastroenterology and nutrition

    pub_type: 杂志文章

    doi:10.1097/MPG.0000000000001484

    authors: Assa A,Amitai M,Greer ML,Castro DA,Kuint RC,Martínez-León M,Herman-Sucharska I,Coppenrath E,Anupindi S,Towbin A,Moote D,Konen O,Pratt LT,Griffiths A,Turner D,ImageKids Study Group.

    更新日期:2017-09-01 00:00:00