Sodium Bicarbonate Locks May Be a Safe and Effective Alternative in Pediatric Intestinal Failure: A Pilot Study.

This was a retrospective study that compared outcomes in pediatric intestinal failure (IF) patients that were switched from ethanol lock therapy (ELT) to sodium bicarbonate lock therapy (SBLT). The primary outcome was rate of catheter-related blood stream infections (CRBSI). The secondary outcomes were number of hospitalizations, emergency room (ER) visits, central venous catheter (CVC)-related complications. In 4 patients, median rates of CRBSI were 2.77 (interquartile range [IQR] 0.6-5.6) on ELT versus 0 on SBLT per 1000 catheter days ( P = 0.17). The median rates of hospitalizations and ER visits for CVC-related complications were 6.1 (IQR 3.2-10.2) on ELT versus 0 on SBLT (IQR 0-0; P = 0.11) and 2.8 (IQR 2-3.6) on ELT versus 1.8 (IQR 0-3.7) on SBLT per 1000 catheter days ( P = 0.50), respectively. Rates of CVC-related complications were similar. No adverse events were reported. SBLT may be safe and effective for pediatric IF.

Natural history of conjugated bilirubin trajectory in neonates following parenteral nutrition cessation.

BACKGROUND: There is little published data regarding the rate of bilirubin clearance in newborns following total parenteral nutrition (TPN) cessation, particularly in the neonatal intensive care unit (NICU) population without intestinal failure. METHODS: The primary aim of this retrospective chart review was to determine the duration and severity of bilirubin elevation in neonates without intestinal failure. Secondary aims were to determine factors that would influence the duration and severity of this biochemical elevation. The authors conducted a retrospective chart review of all infants receiving TPN for ≥ 21 days and with elevated conjugated bilirubin (CB) ≥3 mg/dL upon TPN cessation in a tertiary care NICU from January 1, 2008 to December 1, 2010. Patients with known causes of liver disease or without laboratory values at least four weeks after PN cessation were excluded. Time to maximum conjugated bilirubin (maxCB) post TPN cessation and normalization were the primary outcomes. Secondary factors including number/timing of sepsis events, ethnicity, and ursodiol use were also evaluated. RESULTS: Forty three infants met inclusion criteria. The majority of patients had increased CB post TPN cessation ("up" group; 27/43, 63%) with maxCB reached 13 days (SD ± 10.3) after TPN cessation. The majority of the cohort achieved normalization of the bilirubin prior to discharge (28/43, 65%). There was no difference in rate of normalization (p = 0.342) between the "up" group (59%) and the group of patients whose bilirubin trended downward following PN cessation ("down" group, 75%). There were no differences between the two groups with respect to gestational age at birth, birth weight, number of sepsis events, gram negative sepsis events, or intestinal resection. Only 30% of Hispanic patients had increased CB post TPN cessation compared to the majority (71%) of non-Hispanic patients. The maxCB of those that had complete normalization was significantly lower value than the maxCB of those that did not normalize (p = 0.016). CONCLUSIONS: Nearly two-thirds of infants experience a rise in serum bilirubin following PN cessation that can last for weeks, but cholestasis generally improves with time in the majority of infants.

Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

BACKGROUND: Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data. METHODS: An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the oldest known living patient, and report the cumulative phenotypes from the existing published patients. RESULTS: With now examining the 17 known patients in the literature, 13 died within the perinatal period-pregnancy to one year of life. Of the four cases living past the first year of life, one case died at 5 years secondary to renal failure, the other at 30 months secondary to liver and kidney failure. Two are currently alive and well at one year and 13 years. Two cases have had transplantation with one resulting in long-term survival. CONCLUSIONS: These patients serve to expand the existing phenotype of RHPD2 as a perinatal lethal condition into a pediatric disorder with variable expressivity. Additionally, we introduce the consideration of transplantation and outcomes within this cohort and future patients.

Pediatric intestinal failure and the microbiome.

Neonatal intestinal failure is a complex medical condition that is associated with the need for long term parenteral nutrition and its associated complications. The microbiome in this diseased state is different from what is now understood to be a healthy microbiome. The effect of this dysbiotic microbiome on the complications of intestinal failure are only starting to be understood. The ability to modulate the microbiome with enteral/parenteral nutrients, as well probiotics to a healthier state, is an exciting opportunity that holds promise.

Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era.

Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case illustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.