Marina Rossato Adami

Noninvasive methods for prediction of esophageal varices in pediatric patients with portal hypertension

AIM To evaluate clinical and laboratory parameters for prediction of bleeding from esophageal varices (EV) in children with portal hypertension. METHODS Retrospective study of 103 children (mean age: 10.1 ± 7.7 years), 95.1% with intrahepatic portal hypertension. All patients had no history of bleeding and underwent esophagogastroduodenoscopy for EV screening. We recorded variceal size (F1, F2 and F3), red-color signs and portal gastropathy, according to the Japanese Research Society for Portal Hypertension classification. Patients were classified into two groups: with and without EV. Seven noninvasive markers were evaluated as potential predictors of EV: (1) platelet count; (2) spleen size z score, expressed as a standard deviation score relative to normal values for age; (3) platelet count to spleen size z score ratio; (4) platelets count to spleen size (cm) ratio; (5) the clinical prediction rule (CPR); (6) the aspartate aminotransferase to platelet ratio index (APRI); and (7) the risk score. RESULTS Seventy-one children had EV on first endoscopy. On univariate analysis, spleen size, platelets, CPR, risk score, APRI, and platelet count to spleen size z score ratio showed significant associations. The best noninvasive predictors of EV were platelet count [area under the receiver operating characteristic curve (AUROC) 0.82; 95%CI: 0.73-0.91], platelet: spleen size z score (AUROC 0.78; 95%CI: 0.67-0.88), CPR (AUROC 0.77; 95%CI: 0.64-0.89), and risk score (AUROC 0.77; 95%CI: 0.66-0.88). A logistic regression model was applied with EV as the dependent variable and corrected by albumin, bilirubin and spleen size z score. Children with a CPR < 114 were 20.7-fold more likely to have EV compared to children with CPR > 114. A risk score > -1.2 increased the likelihood of EV (odds ratio 7.47; 95%CI: 2.06-26.99). CONCLUSION Children with portal hypertension with a CPR below 114 and a risk score greater than -1.2 are more likely to have present EV. Therefore, these two tests can be helpful in selecting children for endoscopy.

Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review

Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Gestational alloimmune liver disease associated with neonatal hemochromatosis (GALD-NH) is a rare but potentially treatable cause of NLF. It should be considered in any neonate with fetal signs of disease and postnatal signs of liver failure with no other identifiable causes. GALD-NH is often diagnosed late and patients are therefore referred late to specialized centers, delaying treatment. This case highlights the consequences of late diagnosis and treatment of GALD-NH and emphasizes the importance of a high grade of suspicion of this disease in order to refer the patient to a specialized center soon enough to perform the appropriate treatment.

Tufting enteropathy with EpCAM mutation: case report

Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).

Su2069 Clinical Predictors of Esophageal and/or Gastric Varices Diagnosed by Endoscopy in Children With Portal Hypertension

Introduction: Marked transient elevations of alkaline phosphatase (ALP) are sometimes seen in children. This entity, otherwise called transient hyperphosphatasemia of childhood or Ulysses syndrome can lead to extensive testing without identification of a specific etiology. Delayed renal clearance with elevated macro enzymes or viral infections are possible etiological factors. While the exact physiology is unclear, it typically resolves over a period of weeks to months and no intervention is required. We report a cohort of pediatric liver transplant patients with isolated elevations of ALP without any other clinical or biochemical abnormalities. Methods: Medical records of patients who underwent orthotopic liver transplant (OLT) at Texas Childrens Hospital between 2006 2011 were reviewed retrospectively. All patients with marked elevations of ALP (>690, normal range 145-320) were included. The diagnosis, age of transplant, date of alkaline phosphatase increase and the time taken to normalize or steadily decrease were obtained. In addition, aminotransferases, EBV titers, immunosuppressive regimen and use of steroids to account for possible causes of ALP elevation were recorded. Results: We identified 10 patients with isolated marked elevation of ALP without any other biochemical abnormality. The average value of ALP levels was 4360 and the mean time to normalize was 7 months. The mean age of occurrence was 36 months (median 22) and the timing of this phenomenon after liver transplant varied between 7-38 months. There were no changes in EBV titers or immunosuppressive regimens around the time of ALP increase. None had any documented fevers or a positive infectious workup during the time of the episode. The characteristics of the patients are shown in the table. Discussion: We identified Ulysses syndrome in 7% of 142 patients transplanted since 2006, but children under age three were affected more often. Patients post-OLT are closely monitored for postoperative complications like graft rejection, biliary complications or infection which requires frequent lab tests including liver panel and immunosuppressant drug levels. However, there are instances where we see isolated elevations of ALP without other abnormalities as in our patient group. No infectious etiology or changes in medications were identified in these patients. However, it is possible that patients might have had associated viral syndromes during the time of these episodes that could not be tested due to lack of a comprehensive viral panel. All of the episodes resolved without any interventions. Starzl et al had previously reported a similar phenomenon in the early liver transplant era that is still common in the tacrolimus era. It is essential for hepatologists to recognize this benign entity and thus avoid unnecessary and invasive testing. Table