Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.

Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most common CDG and presents with highly variable features ranging from isolated neurologic involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almost all patients and frequently include hepatomegaly and elevated aminotransferases, although only a minority of patients develop progressive hepatic fibrosis and liver failure. No curative therapies are currently available for PMM2-CDG, although investigation into several novel therapies is ongoing. We report the first successful liver transplantation in a 4-year-old patient with PMM2-CDG. Over a 3-year follow-up period, she demonstrated improved growth and neurocognitive development and complete normalization of liver enzymes, coagulation parameters, and carbohydrate-deficient transferrin profile, but persistently abnormal IgG glycosylation and recurrent upper airway infections that did not require hospitalization. Liver transplant should be considered as a treatment option for PMM2-CDG patients with end-stage liver disease, however these patients may be at increased risk for recurrent bacterial infections post-transplant.

Essential components of transition to adult transplant services: the transplant coordinators' perspective.

CONTEXT: Medical and surgical advancements have resulted in improved long-term survival of pediatric liver transplant recipients. As pediatric patients approach school age and adolescence, transplant centers are challenged to facilitate the process of transitioning from pediatric to adult centers. OBJECTIVE: To describe pediatric and adult liver transplant coordinators' perspective regarding practice for transitioning patients to adult-oriented transplant centers. DESIGN: Descriptive SETTING: Pediatric and adult liver transplant coordinators associated with Studies of Pediatric Liver Transplantation. PARTICIPANTS: A total of 35 pediatric liver transplant coordinators and 24 adult liver transplant coordinators completed the survey. METHOD: Investigator-developed survey to identify current practice for transition process and actual transfer of a patient from pediatric to adult care. RESULTS: Transplant coordinators play an integral role in the transition process, and study results highlight what experienced coordinators believe are important considerations for a successful transition process. Results also highlight the importance of communication and partnership between the pediatric and adult programs.

Liver Transplantation and Development of Diabetes in an Adolescent Male With HNF1B Disease.

Mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene cause a variety of diseases in different organ systems. Mutations have been described as causing neonatal cholestasis, maturity-onset diabetes of the young (type 5), cortical renal cysts, urogenital abnormalities, liver dysfunction, and atrophy of the pancreas. We describe a male patient who presented with cholestatic liver disease in infancy which progressed by age 14 to end-stage liver disease due to HNF1B disease. He subsequently underwent liver transplantation at age 15 and then developed diabetes requiring insulin which did not resolve after cessation of corticosteroids. To our knowledge, this is the first case reported of liver transplantation for decompensated cirrhosis secondary to HNF1B disease.

Decreased incidence of acute rejection in adolescent kidney transplant recipients using antithymocyte induction and triple immunosuppression.

BACKGROUND: Acute rejection is a frequent event in pediatric renal transplantation; it can diminish allograft function and affect long-term outcome. Recent data from the North American Pediatric Renal Transplant Cooperative Study indicates that the rate of acute rejection remains high despite current immunosuppressive regimens. METHODS: In this retrospective series, we examined 37 pediatric renal transplant recipients who received induction doses of antithymocyte globulin combined with maintenance immunotherapy using tacrolimus, mycophenolate mofetil, and prednisone. The postoperative course was reviewed for initial and total hospital stay, number of rehospitalizations, evidence of posttransplant complications, graft fibrosis, and overall patient and graft survival. RESULTS: Three episodes of acute rejection (8.1%) were recorded in the first year posttransplant. The median initial hospital stay for patients receiving a kidney transplant was 8 days. Patient and graft survival were 100% and 91.9% at 1 year, respectively. The incidence of viral infection (cytomegalovirus, BK virus, and Epstein-Barr virus) and posttransplant lymphoproliferative disease remained low. Urinary tract infection and fluid and electrolyte complications were the main causes of posttransplant hospitalization. CONCLUSIONS: We conclude that induction with antithymocyte globulin and maintenance immunosuppression with tacrolimus, mycophenolate, and prednisone should be considered a valuable tool in the management of children undergoing renal transplantation.

Monitoring enteral nutrition support tolerance in infants and children.

Enteral nutrition support is used extensively in the care of infants and children, both for acute and chronic conditions. Monitoring a child's tolerance of enteral feedings is an ongoing challenge. Monitoring routines vary significantly between institutions, practitioners, and patient settings, and a number of definitions are used for "intolerance." Some guidelines have scientific basis and others are passed along in a more anecdotal fashion. This review describes commonly used monitors for tolerance to enteral nutrition for infants and children and discusses pertinent data relevant to practice.

Hand-assisted laparoscopic donor nephrectomy for pediatric kidney allograft recipients.

Laparoscopic donor nephrectomy (LDN) is the method of choice for procuring kidneys from living donors at many transplant centers. The aim of this study was to assess the feasibility as well as outcome of LDN in pediatric recipients. Twenty-two pediatric patients, 18-yr old or younger received kidneys procured by a hand-assisted LDN technique. The mean operative time was no different (p = 0.9) and the mean length of stay was more than 1 day shorter in the LDN group (p = 0.0001) compared with the 13 pediatric patients who received kidneys by standard open nephrectomy. Body mass index (BMI), number of donor kidney vessels, or laterality of the kidney did not impact the donor operation or outcome. Actuarial 1-yr patient survival was 100% and allograft survival was 95%, which are equivalent to registry data. There were no donor mortalities and there were five morbidities. None required hospitalization. There were no conversions from LDN to open nephrectomy. One kidney was lost because of overwhelming infection necessitating withdrawal of immunosuppression. In conclusion, hand-assisted LDN is a safe method of procuring kidneys from potential donors with no significant negative outcomes to the pediatric recipients.