A newly discovered disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells is caused by loss-of-function mutations in NEUROG3.

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Background Studies have suggested that when intravenous (IV) soybean oil (SO) is replaced with fish oil (FO), direct hyperbilirubinemia is more likely to resolve. The necessary duration of FO has not been established. This study seeks to determine if 24 weeks of FO is an effective and safe therapy for intestinal failure associated liver disease (IFALD). Materials and Methods This is a clinical trial using patients with IFALD between the ages of 2 weeks and 18 years. SO was replaced with FO (1 g/kg/day) in 10 subjects who were receiving the majority of their calories from parenteral (PN). Subjects were compared to 20 historical controls receiving SO. SO for both groups was prescribed by the primary medical team at variable doses. The primary outcome was time to reversal of cholestasis. Secondary outcomes were death, transplant, and full enteral feeds. Safety measurements included growth, essential fatty acid deficiency, and laboratory markers to assess bleeding risk. Results The Kaplan-Meier method estimates that 75% in the FO group will experience resolution of cholestasis by 17 weeks vs. 6% in the SO group (p < 0.0001). When compared to the SO group, the FO group had decreased serum direct bilirubin concentrations at weeks 8 (p=0.03), 12, 16, 20 and 24 (p< 0.0001). While length Z-score at the end of the study increased in the FO group compared to baseline (p=0.03), there were no significant differences in other outcomes. Conclusions A limited duration of FO appears to be safe and effective in reversing IFALD.

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The inpatient and outpatient records were reviewed for 527 patients, including 138 children, who were discharged on home total parenteral nutrition and followed by the University of California, Los Angeles, home total parenteral nutrition service for a minimum of 1 week between April 1973 and October 1991. The total follow-up time was 1154 patient years; the median follow-up time was 206 days (range 7 to 6344 days). Thirty-six patients were followed for more than 10 years (median 12.7 years). Three hundred fifteen adults (but only four children) were never infected. A total of 427 catheter-related infections occurred, giving an overall infection rate of 0.37 per patient year (0.51 per patient year in children and 0.28 per patient year in patients followed for more than 10 years). Seventy percent of the infections overall were sepsis (0.26 per patient year); of those, 17% were exit site (0.06 per patient year), and 2% were tunnel (0.01 per patient year) infections. In children, 67% of the infections were sepsis (0.37 per patient year) and 24% were exit site (0.13 per patient year). Fifty-four different organisms were responsible, and 12% of the infections were polymicrobial in origin. Sixty percent of sepsis in all patients was caused by Gram-negative organisms (44% of the catheters were removed). Forty-three percent of sepsis in children was caused by Gram-negative organisms. Twenty-six percent of sepsis in all patients was caused by Gram-positive organisms (40% of the catheters were removed). Thirty-six percent of sepsis in children was caused by Gram-positive organisms.(ABSTRACT TRUNCATED AT 250 WORDS)

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Micronutrient deficiency and anemia are overwhelmingly prevalent in children with IF using chronic PN. This emphasizes the importance of universal surveillance and supplementation to potentially improve quality of life and developmental outcomes. Future research should investigate how racial disparities might contribute to nutrition outcomes for children using chronic PN.

Suboptimal 25-OHD levels are common in children with IF on home PN. This emphasizes the critical importance of routine surveillance of serum vitamin D levels and consideration of enteral supplementation when indicated.