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Kawasaki disease is a systemic vasculitis that develops during childhood, especially in those younger than 5 years. Gastrointestinal involvement does not belong to the classic diagnostic criteria. We reported here, a 9‐year old girl who presented with febrile cholestasis, and developed a medium right coronary artery aneurysm despite intravenous immunoglobulin administration on the 9th day of fever. Hepatobiliary ultrasonographic evaluation revealed normal findings. Seroimmunologic markers of cholestasis were negative. Her clinical feature was ameliorated shortly after a second dose of intravenous immunoglobulin administration. We consider that a high index of suspicion of Kawasaki disease could prevent delayed diagnosis and complications. [ABSTRACT FROM AUTHOR]

Aim: Children with ultra-short bowel syndrome (USBS) have not been extensively studied to date because the condition is rare. The aim of the study was to assess the nutritional status of children with USBS receiving home parenteral nutrition, using citrulline serum concentration and cholestasis.Methods: We studied 17 patients with USBS, with a median age of 6.6 years and median duration of parenteral nutrition of 6.6 years. The study was carried out at The Children's Memorial Health Institute, Warsaw, from January 2014 to January 2015.Results: The median standard deviation score (SDS) was -1.2 for body mass according to chronological age, -1.72 according to height and -0.59 according to height for age. Patients requiring seven days per week parenteral nutrition had a citrulline concentration below 10 μmol/L. Decreased bone-mineral density was observed in 87% of the patients. Low values of 25-hydroxyvitamin D were found in 53% of the children. None of the patients had elevated conjugated bilirubin levels above 34.2 μmol/L.Conclusion: Children with USBS were growth deficient according to their chronological age, with frequent abnormal bone mineralisation and vitamin D deficiency. Children requiring parenteral nutrition seven days a week had citrulline concentrations below 10 μmol/L. Cholestasis was not seen. [ABSTRACT FROM AUTHOR]

Aim of work: To estimate the frequency of mutations involving exons 6, 8 and 9 of Adenosine triphosphate-binding cassette, subfamily B, member 4 (ABCB4) gene among children with progressive intrahepatic cholestasis with high γ-GT activity (PFIC3). Subjects and methods: Cross sectional study was conducted on 30 children with PFIC3. Genotyping was performed by sequencing analysis of exons 6, 8 and exon 9 of ABCB4 gene. Results: Heterozygous synonymous polymorphic variant was detected in exon 6 (rs 1202283) and in exon 8 (rs 2109505). No mutations in studied exons were detected. Conclusion: Exons 6, 8 and 9 mutations of ABCB4 gene are not common among Egyptian children with PFIC3. [ABSTRACT FROM PUBLISHER]

Aim Single gene mutations cause syndromes of intrahepatic cholestasis, but previous multi-gene mutation screening in children with idiopathic cholestasis failed to fulfill diagnostic criteria in approximately two-thirds of children. In adults with fibrosing cholestatic disease, heterozygous ABCB4 mutations were present in 34% of patients. Here, we hypothesized that children with idiopathic cholestasis have a higher frequency of heterozygous non-synonymous gene sequence variants. Methods We analyzed the frequency and types of variants in 717 children in whom high-throughput sequencing of the genes SERPINA1, JAG1, ATP8B1, ABCB11 and ABCB4 was performed as part of an evaluation for idiopathic intrahepatic cholestasis cholestasis. The frequency of non-synonymous variants (NSV) was compared with those of 1092 control subjects enrolled in the 1000 Genome Project. Results The frequency of NSV in single genes was similar between disease (25%) and controls (26%, P = 0.518). In contrast, double or triple NSV in two or more genes were more frequent in disease ( n = 7%) than controls ( n = 4.7%, P = 0.028). Detailed review of clinical and laboratory information in a subgroup of double or triple heterozygous patients revealed variable γ-glutamyltransferase levels and severity of pruritus, with liver biopsies showing stage 2-3 fibrosis. Conclusion Children with idiopathic intrahepatic cholestasis have a higher frequency of double or triple NSV in SERPINA1, JAG1, ATPB1, ABCB11 or ABCB4. These findings raise the potential role for gene-gene relationships in determining the phenotype of cholestatic liver disease in children. [ABSTRACT FROM AUTHOR]

Cholestasis is a multifactorial disorder with various biological, infectious, toxic, genetic and metabolic manifestations, its principal feature presented as reduced bile flow or abnormalities in bile formation. It has lately been accepted that some specific biological markers would shorten the period needed to establish a positive diagnosis, as currently it is necessary to navigate through a complex diagnostic protocol for this disorder. The purpose of this study was to establish some biological parameters and biomarkers useful for cholestasis management in children. Two hundred thirty-two children with cholestasis were selected, during a six-year study. The biological indicators followed were serum bilirubin, gamma-glutamyl transpeptidase, aspartate transaminase, alkaline phosphatase, lactate dehydrogenase, serum cholesterol and triglycerides. Our data showed that certain biological parameters are more often involved in the various forms of cholestasis, and the conclusions of this study could be useful in the early detection of cholestasis and appropriate disease management. [ABSTRACT FROM AUTHOR]

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are caused by defect in bile secretion and present with intrahepatic cholestasis, usually in infancy and childhood. These are autosomal recessive in inheritance. The estimated incidence is about 1 per 50,000 to 1 per 100,000 births, although exact prevalence is not known. These diseases affect both the genders equally and have been reported from all geographical areas. Based on clinical presentation, laboratory findings, liver histology and genetic defect, these are broadly divided into three types—PFIC type 1, PFIC type 2 and PFIC type 3. The defect is in ATP8B1 gene encoding the FIC1 protein, ABCB 11 gene encoding BSEP protein and ABCB4 gene encoding MDR3 protein in PFIC1, 2 and 3 respectively. The basic defect is impaired bile salt secretion in PFIC1/2 whereas in PFIC3, it is reduced biliary phospholipid secretion. The main clinical presentation is in the form of cholestatic jaundice and pruritus. Serum gamma glutamyl transpeptidase (GGT) is normal in patients with PFIC1/2 while it is raised in patients with PFIC3. Treatment includes nutritional support (adequate calories, supplementation of fat soluble vitamins and medium chain triglycerides) and use of medications to relieve pruritus as initial therapy followed by biliary diversion procedures in selected patients. Ultimately liver transplantation is needed in most patients as they develop progressive liver fibrosis, cirrhosis and end stage liver disease. Due to the high risk of developing liver tumors in PFIC2 patients, monitoring is recommended from infancy. Mutation targeted pharmacotherapy, gene therapy and hepatocyte transplantation are being explored as future therapeutic options. [ABSTRACT FROM AUTHOR]

This study was aimed to determine prevalence of Vitamin D deficiency and rickets in children with cholestatic liver diseases. Forty eight children with established cholestatic liver disease who referred to gastrointestinal clinic of Children Medical Center (Tehran, Iran) between April 2010 and March 2011 were enrolled in a cross-sectional study. Laboratory analysis including calcium, phosphate, albumin, total and direct bilirubin, aminotransferases, alkalinephosphatase (ALP), prothrombin time (PT), parathyroid hormone (PTH), total protein determined by routine laboratory techniques. Mean age of participants was 299.1 ± 676.8 days (range 2-3600 days) whereas twenty one were female (43.8%) and 27 (56.3%) were male. Twenty two (45.8%) had evidences of rickets in X-ray evaluation. Three children with rickets and two with normal X-ray had Vitamin D deficiency while ten in rickets group and 16 in normal group had Vitamin D insufficiency. The main underlying diseases were anatomical biliary atresia in cases with rickets and idiopathic in other group. Rickets and Vitamin D deficiency should be considered in chronic cholestatic children. [ABSTRACT FROM AUTHOR]

Abstract: Background: Progressive familial intrahepatic cholestasis (PFIC) is a family of rare childhood diseases that was universally fatal until the development of liver transplant. In the last 20 years, the use of nontransplant surgery to treat PFIC has become the standard of care. There are various surgical techniques that have been performed. There are no reviews evaluating the outcome of these operations. Methods: A systematic search of the literature for articles evaluating the outcome of nontransplant surgical interventions in PFIC patients was performed. Data from these studies was abstracted and summarized. Results: No trials have been performed addressing nontransplant surgical interventions in PFIC patients. We analyzed 11 case series and case reports. Generally, patients had successful outcomes (81%) with cessation of progression of disease and resolution of symptoms. Treatment failures were often associated with more advanced disease. Discussion: There is no evidence to demonstrate a superiority of one type of nontransplant surgical intervention in PFIC patients. We propose the development of a registry and standardization of outcomes measurements to allow improved comparison of results. [Copyright &y& Elsevier]

End-stage liver cirrhosis because of metabolic or infectious diseases predisposes to hepatic malignancies like hepatocellular carcinoma. We report the first case of hepatoblastoma incidentally detected in the explanted liver of a 2-yr-old child undergoing liver transplantation for cirrhosis because of progressive familial intrahepatic cholestasis (PFIC). The diagnosis was difficult to obtain. The hepatoblastoma was not seen on ultrasound examination of the cirrhotic liver. As we could confirm retrospectively, alpha fetoprotein (AFP) was found elevated prior to transplantation. Two years after successful transplantation, there are no signs of malignancy detectable by clinical and radiological methods. We conclude from this case that PFIC may induce hepatoblastoma and that children with liver cirrhosis should undergo routine screening of serum AFP concentration. [ABSTRACT FROM AUTHOR]

Generalized pustular psoriasis (GPP) is uncommon in children, and serious renal and liver complications arising from GPP are rarely reported. We describe a Chinese boy who had suffered from recurrent exacerbations of GPP from the age of 1 year. He developed IgA nephropathy at the age of 9 years. He also had recurrent episodes of oliguric renal failure, hepatomegaly and cholestasis associated with severe exacerbations of GPP. These complications progressed despite early antibiotics and supportive therapy, but responded promptly to intravenous methylprednisolone therapy. Ultimately, acitretin was given and he has successfully been in remission for a year. [ABSTRACT FROM AUTHOR]

Primary sclerosing cholangitis (PSC), a chronic inflammatory process affecting the extrahepatic and/or medium to large bile ducts, is not rare in children. It has features suggesting an autoimmune pathogenesis, although the mechanism of tissue damage remains unknown. The clinical presentation of childhood primary sclerosing cholangitis is highly variable and frequently without obvious features of cholestasis. Clinical similarity to autoimmune hepatitis is common. Association with chronic colitis is less common than in adults. Cholangiography is essential for the diagnosis and examination of the medium to large intrahepatic ducts is mandatory, as 40% of children lack extrahepatic duct involvement. Histological findings may help to distinguish childhood PSC from autoimmune hepatitis. In children, sclerosing cholangitis may also develop secondary to other disease processes, notably Langerhans histiocytosis, congenital immunodeficiencies and cystic fibrosis. Neonatal sclerosing cholangitis is chronic inflammatory disease of bile ducts which presents initially with neonatal cholestasis; its pathogenesis remains uncertain and may not be the same as for primary sclerosing cholangitis. Effective treatment modalities for childhood PSC remain undetermined. Liver transplantation is required for children who progress to biliary cirrhosis and hepatic decompensation. © 1999 Blackwell Science Asia Pty Ltd. [ABSTRACT FROM AUTHOR]

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