A Familial non-itching cholestasis

A Familial non-itching cholestasis

Abstracts / Digestive and Liver Disease 46 (2014) e85–e127 Table 1 BA (n = 16) Clay stool 8 (50%) Triangular cord 2 (12.5%) Contractile gallbladder 2...

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Abstracts / Digestive and Liver Disease 46 (2014) e85–e127 Table 1

BA (n = 16) Clay stool 8 (50%) Triangular cord 2 (12.5%) Contractile gallbladder 2 (12.5%) Gallbladder Length > 20.5 mm 0 HAD > 2.05 mm 4 (25%) HAD/PVD > 0.445 mm 8 (50%) Hepatic subcapsular flow 1 (6%) gGT >286 14 (87.5%) PLT > 349,000 11 (68.7%) Ductular proliferation 16 (100%) Bile Plugs 13 (81.2%) Multi-nucleated giant hepatocytes 8 (50%) HAD, hepatic artery diameter; PVD, portal vein diameter

Non BA (n = 11) 1 (9%) 0 5 (45.4%) 3 (27%) 2 (18.2%) 5 (45.4%) 0 6 (54.5%) 5 (45.4%) 6 (54.5%) 3 (27%) 3 (27%)

potential of this scoring system. However, the need for a systematic liver biopsy is the major limitation in daily clinical practice. http://dx.doi.org/10.1016/j.dld.2014.07.104 HEREDITARY FRUCTOSE INTOLERANCE IN CHILDREN: CORRELATION BETWEEN DIETARY INTAKE OF FRUCTOSE AND LIVER DISEASE Giovanna Puoti ∗ , Fabrizia Chiatto, Giancarlo Parenti, Simona Spadarella, Maria Immacolata Spagnuolo, Raffaele Iorio Department of Translational Medical Science, Section of Pediatrics, University Federico II, Naples, Italy Objective: Hereditary Fructose Intolerance (HFI) is an inborn error of fructose metabolism, responsible for severe liver disease, if untreated. Currently, treatment only relies on strict fructose-free diet. It is not clear if continued daily intake of small amounts of fructose is associated with chronic liver damage. The aim of this study was to analyze the possible correlation between fructose intake and presence of liver disease signs in HFI patients and the role of genotype–phenotype correlation. Methods: Forty-four patients (22 males; mean age at diagnosis 5.8 ± 3.1 months) with HFI were enrolled. At diagnosis, in all patients a fructose-free diet was prescribed. According to liver function tests and hepatic ultrasound evaluation, patients were divided in two groups: the first with liver disease signs and the second without. The daily fructose intake was calculated using a food diary. Results: During a mean follow-up of 13.5 ± 6.6 years, 25 (56.8%) patients presented liver disease signs. These patients did not differ from those without liver disease signs with regard to the daily fructose intake (67 ± 156 versus 138 ± 150 mg/day, p = 0.391). No significant correlation between dietary fructose intake and hypertransaminasemia was found. The two groups did not differ in relation to the type of mutation (missense, nonsense or frameshift). Analyzing the specific types of mutation, homozigosity for A149P type was present in 12% of patients with liver disease and 36.8% of those without liver disease (p = 0.0187). Conclusions: There is a subset of HFI patients that continue to have liver disease signs despite an appropriate fructose-free diet. It is likely that factors other than dietary fructose intake affect the liver disease. http://dx.doi.org/10.1016/j.dld.2014.07.105

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SAFETY OF ULTRASOUND-GUIDEDPERCUTANEOUS CORE NEEDLE LIVER BIOPSIES OF PEDIATRIC PATIENTS: A SINGLE CENTER EXPERIENCE Andrea Pietrobattista 1,∗ , Valentina Giorgio 2 , Massimo Rollo 3 , Rodolfo Fruhwirth 3 , Arianna Alterio 2 , Manila Candusso 1 , Valerio Nobili 2 , Giuliano Torre 1 1

Unità di Epatogastro e Nutrizione, Ospedale Pediatrico Bambino Gesù, Roma, Italy 2 Unità di Malattie Epatometaboliche, Ospedale Bambino Gesù, Roma, Italy 3 Unità di Radiologia Interventistica, Ospedale Pediatrico Bambino Gesù, Roma, Italy Objective: The purpose of this study was to evaluate the safety and efficacy of sonography-guided percutaneous core needle liver biopsy in infants and children. Materials and methods: We conducted a retrospective analysis of patients who underwent ultrasound-guided percutaneous core needle liver biopsies over a 3.4-year (January 2011–May 2014) period by experienced pediatric interventional radiologists, skilled in radiology guided percutaneous procedures – performing over 30 procedures/week-, at a single center. Our protocol included fullblood-count checks 2 and 24 h after the liver biopsy was performed. Results: A total of 340 procedures were performed in 243 patients (146 males), with a mean age of 11.5 years (age range, 6 months – 19 years). The main indications for biopsies were suspicion of non alcoholic steatohepatitis (37.2%), evaluation of transplanted liver (24.3%), abnormal liver enzymes (19.6%), grading and staging of chronic hepatitis B or C (9.6%), suspicion of metabolic diseases (5.4%), miscellaneous other liver abnormalities (3.9%). The procedures were performed for the most under sedation (82.1%), or general anesthesia (17.9%). Diagnostic yield was obtained in 98,1% biopsies. No patient experienced a major complication, such as pneumothorax or bleeding. Two children who underwent liver biopsy for evaluation of transplanted split livers, experienced sepsis, in one case due to a G-bacteria, and in the other due to Enterobacter Cloacae. No child required transfusion. There were no procedure-related deaths. Minor complications (n = 3, 1.2%) included a symptomatic subcapsular hematoma. Conclusions: Ultrasound-guided percutaneous core liver biopsy is a safe and effective procedure in all children needing histology evaluation of liver disease, and has very low complication rate. http://dx.doi.org/10.1016/j.dld.2014.07.106 A FAMILIAL NON-ITCHING CHOLESTASIS Lorenza Matarazzo 1,∗ , Stefano Martelossi 2 , Gian Paolo Chiaffoni 3 , Flavio Faletra 2 , Davide Zanon 2 , Giuseppe Maggiore 4 , Alessandro Ventura 2,1 1

University of Trieste, Trieste, Italy Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”- Trieste, Italy 3 U.O.Pediatria, P.O.di Conegliano e Vittorio Veneto, Ospedale S.Maria dei Battuti, Conegliano (TV), Italy 4 Gastroenterologia Pediatrica, Dipartimento di Medicina Clinica e Sperimentale, Università di Pisa, Italy 2

Aim: Assessing the efficacy of cholic acid (CA) therapy for 3beta-hydroxy-Delta5 -C(27)-steroid oxidoreductase (3beta-HSD) deficiency.

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Abstracts / Digestive and Liver Disease 46 (2014) e85–e127

ALAGILLE SYNDROME: IS IT ALWAYS CHOLESTASIS? Claudia Mandato 1,∗ , Daniele De Brasi 1 , Angela Boccieri 1 , Maria Iascone 2 , Pietro Vajro 3 , Paolo Siani 1 1

Dipartimento di Pediatria, AORN Santobono-Pausilipon, Napoli, Italy 2 Lab Genetica Molecolare - USSD LGM, AO Papa Giovanni XXIII, Bergamo, Italy 3 Dipartimento di Medicina e Chirurgia, Università di Salerno, Salerno, Italy

Fig. 1. Atypical urinary metabolites trend, patient 1.

Fig. 2. Atypical urinary metabolites trend, patient 2.

Methods: A 3-year-old Pakistani girl presented rickets, poor growth, hepatomegaly and jaundice without itching. Blood tests revealed mild hyperbilirubinaemia (total 1.73 mg/dl, direct 1.52), elevated aminotransferases (AST 108 U/L, ALT 84 U/L), normal ␥GT (15 U/L), low serum bile acids (1.3 ␮mol/L, n.v. 2-10) and coagulopathy (PT 2.64, PTT 1.72). Vitamin D and E were low (0.87 ␮g/mL, 14.4 mg/dL) with normal vitamin A (0.52 ␮g/mL). UDCA and fatsoluble vitamins therapy was started. FAB-MS urinalysis revealed an increase of atypical bile salts peculiar to 3beta-HSD and genetic analysis revealed a novel homozygous mutation (HSD3B7 gene). Liver biopsy showed focal cirrhosis with moderate inflammatory infiltrate. CA therapy (10–15 mg/kg/daily) was then started. After two years, patient’s sister was born. Blood tests showed increased aminotransferase with normal ␥GT (AST 266 U/L, ALT 229 U/L, ␥GT 32 U/L), neonatal jaundice and normal serum bile salts (7.5 ␮mol/L). Coagulation and fat-soluble vitamins were normal. FAB-MS urinalysis revealed a marked elevation of 3beta-HSD atypical metabolites. Diagnosis was confirmed by genetic analysis. Liver biopsy documented inflammatory infiltrate, steatosis and mild portal fibrosis. CA therapy (15 mg/kg/daily) was started. Results: Treatment with CA decreased atypical bile salts excretion (except for a transient increase in patient 2 due to neglecting therapy) (Figs. 1 and 2) and an improvement of aminotransferases were shown in both patients without side-effects. Conclusions: CA therapy (10-15 mg/kg/daily) is safe and effective for treatment of 3beta-HSD. http://dx.doi.org/10.1016/j.dld.2014.07.107

Background: Alagille syndrome (AS) is a rare multisystemic AD disease caused by an alteration of NOTCH 2 pathway (prevalently due to JAG1 mutation). It causes chronic cholestasis which is a frequent indication for pediatric liver transplantation. Diagnosis is suspected if chronic cholestasis is accompanied by at least three of the following features: congenital heart disease, vertebral segmentation anomalies, characteristic facies, posterior embryotoxon. Here we describe a patient with a novel mutation without chronic cholestasis. Case characteristics: VA was admitted at age 2 years for failure to thrive. She had isolated mild hypertransaminasemia (ALT, AST x 1,5 nv), with normal markers of cholestasis (serum bilirubin, GGT, ALP, biliary acids, serum lipids) and liver function. A peculiar face and heart murmur were noted. Ultrasonography showed peripheral pulmonary stenosis (PPS) and right double renal district. Eye examination showed left embriotoxon. Due to quite normal liver tests, a liver biopsy was considered unethical. Molecular analysis showed a novel mutation of JAG1 gene (p.Ala583fs: de novo mutation). Conclusions: Liver and heart disease are the prevalent features of AS, whereas the remaining body systems may show a wide spectrum of clinical presentations, thus representing a possible significant diagnostic challenge. Revised clinical criteria have been proposed in order to avoid underdiagnosis of a patient who does not meet classic criteria. In our case, clinical suspicion was based on dysmorphic features, PPS, embriotoxon, in absence of cholestasis and this lead to identification of a novel mutation at molecular testing. http://dx.doi.org/10.1016/j.dld.2014.07.108 AN ADOLESCENT WITH BUDD-CHIARI SYNDROME ASSOCIATED WITH MYELOPROLIFERATIVE DISORDER Maria Tufano 1,∗ , Fabiola Di Dato 1 , Giusy Ranucci 1 , Manila Candusso 2 , Giuliano Torre 2 , Raffaele Iorio 1 1

Dipartimento di Scienze Mediche Traslazionali, Settore di Pediatria, Università degli studi di Napoli Federico II, Napoli, Italy 2 Hepatology, Gastroenterology and Nutrition Unit, Bambino Gesù Children’s Hospital, Roma, Italy Introduction: Budd-Chiari syndrome (BCS) is a rare disorder, consequence of obstruction to hepatic venous outflow. In most cases it is possible to identify the underlying cause of thrombosis. Hereby a pediatric case of BCS associated with a myeloproliferative disorder is described. Clinical case: A 16-year-old girl was admitted in March 2014, with a history of abdominal pain and menstrual irregularity. Physical examination revealed abdominal distension, ascites and hepatosplenomegaly. Abdomen and pelvic ultrasound showed the