Pediatric Inflammatory Bowel Disease.

Background: The incidence of inflammatory bowel disease is increasing in the pediatric population worldwide. Need and purpose of review: There is paucity of high quality scientific data regarding pediatric inflammatory bowel disease. Most of the guidelines are offshoots of work done in adults, which have been adapted over time to diagnose and treat pediatric patients. This is in part related to the small numbers in pediatric inflammatory bowel disease and less extensive collaboration for multicentric trials both nationally and internationally. Methods: A literature search was performed using electronic databases i.e. Pubmed and OVID, using keywords: pediatric, inflammatory bowel disease, Crohn’s disease, Ulcerative colitis, epidemiology and guidelines. This article amalgamates the broad principles of diagnosing and managing a child with suspected inflammatory bowel disease. Main conclusions: 25% of the patients with inflammatory bowel disease are children and and young adolescents. The primary concern is its impact on growth velocity, puberty and quality of life, including psychosocial issues. Treatment guidelines are being re-defined as the drug armamentarium is increasing. The emphasis will be to achieve mucosal healing and normal growth velocity with minimal drug toxicity.

Alagille Syndrome with a Previously Undescribed Mutation.

Background: Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. Case characteristics: An 8-year old child with persisting jaundice, severe itching and failure to thrive. Observation: Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biopsy showing bile duct paucity. Genetic analysis revealed a novel de novo mutation in the JAG 1 gene. Outcome: The child was started on ursodeoxycholic acid following which the itching improved. Message: A novel de novo mutation in JAG 1 gene is described in this child with Alagille Syndrome.

Management of Neonatal Cholestasis: Consensus Statement of the Pediatric Gastroenterology Chapter of Indian Academy of Pediatrics.

Justification: Neonatal cholestasis is an important cause of chronic liver disease in young children. Late referral and lack of precise etiological diagnosis are reasons for poor outcome in substantial number of cases in India. There is a need to create better awareness among the pediatricians, obstetricians and primary care physicians on early recognition, prompt evaluation and referral to regional centers. Process: Eminent national faculty members were invited to participate in the process of forming a consensus statement. Selected members were requested to prepare guidelines on specific issues, which were reviewed by two other members. These guidelines were then incorporated into a draft statement, which was circulated to all members. A round table conference was organized; presentations, ensuing discussions, and opinions expressed by the participants were incorporated into the final draft. Objectives: To review available published data on the subject from India and the West, to discuss current diagnostic and management practices in major centers in India, and to identify various problems in effective diagnosis and ways to improve the overall outcome. Current problems faced in different areas were discussed and possible remedial measures were identified. The ultimate aim would be to achieve results comparable to the West. Recommendations: Early recognition, prompt evaluation and algorithm-based management will improve outcome in neonatal cholestasis. Inclusion of stool/urine color charts in well baby cards and sensitizing pediatricians about differentiating conjugated from the more common unconjugated hyperbilirubinemia are possible effective steps. Considering the need for specific expertise and the poor outcome in sub- optimally managed cases, referral to regional centers is warranted.

Management of Acute Liver Failure in Infants and Children: Consensus Statement of the Pediatric Gastroenterology Chapter, Indian Academy of Pediatrics.

Process: Selected members were requested to prepare guidelines on specific issues, which were reviewed by two other members. These guidelines were then incorporated into a draft statement, which was circulated to all members. On 17th December 2011, Kunwar Viren Oswal round table conference was organized by the Apollo Center for Advanced Pediatrics, Indraprastha Apollo Hospital, New Delhi and the Sub-specialty Chapter of Pediatric Gastroenterology, Indian Academy of Pediatrics. Presentations, ensuing discussions, and opinions expressed by the participants were incorporated into the final draft. Objectives: To formulate comprehensive evidence based guidelines for management of acute liver failure in India, Recommendations: Viral hepatitis is the leading cause of acute liver failure (ALF) in India. Search for metabolic etiology, particularly in infants and neonates, and in apparently idiopathic cases needs to be done. Planning for early transfer is important as the risks involved with patient transport may increase or even preclude transfer at later stages. Management should be in an intensive care setting in select situations. There is currently insufficient evidence to routinely prescribe branched-chain amino acids, non-absorbable antibiotics or lactulose. Group recommends use of N-acetyl cysteine routinely in patients with ALF. Administration of antibiotics is recommended where infection is present or the likelihood of impending sepsis is high. Enteral nutrition is preferred to parenteral nutrition. Protein restriction is not recommended. An international normalized ratio >4 or Factor V concentration of <25% are the best available criteria for listing for liver transplantation. Overall 40-50% of ALF patients survive without transplantation. Survival in patients fulfilling criteria for liver transplantation and not transplanted is 10-20%. Liver transplantation is a definite treatment for ALF with high one-and five-year survival rates.

Prolonged Cholestasis due to Hepatitis A Virus Infection.

We present a 12-year old boy with jaundice for 2 weeks. The child was deeply icteric and had hepatomegaly. IgM antibodies for hepatitis A virus were positive. However this child had prolonged cholestasis and cholestyramine was started. The child responded only after prednisolone was started.

Alpha 1 Antitrypsin Deficiency in Children with Chronic Liver Disease in North India.

Objective: We attempted to determine the role of alpha-1- antitrypsin (AAT) deficient variants as an etiologic factor for chronic liver disease in North Indian children. Design: This study investigated 1700 children (682 retrospectively and 1018 prospectively) (840 CLD, 410 neonatal cholestasis and 450 without liver disease) for AAT deficiency. Setting: Tertiary referral center, All India Institute of Medical Sciences, New Delhi. Patients: Of 1250 liver disease patients, 98 (7.8%) were suspected to be AAT deficient on the basis of screening tests (low serum AAT levels and/or absent/faint alpha-1- globulin band on serum agarose electrophoresis and/or diastase resistant PAS positive granules on liver biopsy). Main outcome measures: AAT deficient Z or S allele in suspected patients. Results: Z or S allele was not observed on phenotyping (1700 subjects), or with PCR-RFLP, SSCP and sequencing done in 50 of 98 suspected AAT deficient patients. A novel mutation G-to-A at position 333 in exon V was found in two siblings having positive immunohistochemistry for AAT on liver biopsy, both of whom had significant liver disease with portal hypertension. Conclusion: In conclusion, AAT deficiency as an etiologic factor for chronic liver disease in childhood appeared to be uncommon in North India.

Intensive Care Management of Children with Acute Liver Failure.

Acute liver failure is an uncommon condition associated with multi organ involvement, high morbidity and mortality. Etiology of acute liver failure varies with age and geographical location. Most cases of acute liver failure in India are due to infectious causes predominantly viral hepatitis. A significant group with indeterminate causation remains, despite careful investigation. The etiology of acute liver failure in infants is largely metabolic. The mainstay of management is supportive care in an intensive care unit. Monitoring of clinical and biochemical parameters is done frequently until the patient becomes stable. Mortality is predominantly due to raised intracranial pressure, infections and multi-organ failure. Liver transplant is an important life saving procedure for children with acute liver failure.

Infantile Hookworm Disease.

Hookworm infection is common but has rarely been reported in neonates or infants. Two cases of hookworm infestation in early infancy are described. The infants presented with malena, severe pallor, lethargy and failure to gain weight. Initial stool examination was non-contributory and diagnosis was made by upper gastrointestinal endoscopy