Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.

The current pandemic SARS‐CoV‐2 has required an unusual allocation of resources that can negatively impact chronically ill patients and high‐complexity procedures. Across the European Reference Network on Pediatric Transplantation (ERN TransplantChild), we conducted a survey to investigate the impact of the COVID‐19 outbreak on pediatric transplant activity and healthcare practices in both solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). The replies of 30 professionals from 18 centers in Europe were collected. Twelve of 18 centers (67%) showed a reduction in their usual transplant activity. Additionally, outpatient visits have been modified and restricted to selected ones, and the use of telemedicine tools has increased. Additionally, a total of 14 COVID‐19 pediatric transplanted patients were identified at the time of the survey, including eight transplant recipients and six candidates for transplantation. Only two moderate‐severe cases were reported, both in HSCT setting. These survey results demonstrate the limitations in healthcare resources for pediatric transplantation patients during early stages of this pandemic. COVID‐19 disease is a major worldwide challenge for the field of pediatric transplantation, where there will be a need for systematic data collection, encouraging regular discussions to address the long‐term consequences for pediatric transplantation candidates, recipients, and their families.

Objectives: The aim of the study was to describe the experience with teduglutide of several Spanish hospitals in pediatric patients with SBS (SBS). Methods: Seventeen pediatric patients with intestinal failure associated with SBS were treated with teduglutide. Patients received 0.05 mg · kg−1 · day−1 of subcutaneous teduglutide. Patients’ demographics and changes in parenteral nutrition (PN) needs, fecal losses, and citrulline level initially and at 3, 6, and 12 months were collected, as well as any adverse events. Results: Patients were receiving 55 ml · kg−1 · day−1 and 33 kcal · kg−1 · day−1 of parenteral supplementation on average at baseline (2 patients received only hydroelectrolytic solution). A total of 12/17 patients achieved parenteral independence: 3 patients after 3 months of treatment, 4 patients at 6 months, and 5 after 12 months. One patient discontinued treatment 1 year after the beginning as no changes in parenteral support or fecal losses were obtained. All others decreased their intravenous requirements by 50%. One patient suffered an episode of cholecystitis, and another one with a pre-existing cardiac disease, developed a cardiac decompensation. Conclusions: Teduglutide seems to be a safe and effective treatment in the pediatric SBS population with better results than in the pivotal study as well as in the adult population.

Multivisceral transplantation (MvTx) is the concurrent transplantation of the stomach, pancreaticoduodenal complex, and intestine, with or without the liver. Its use is increasing worldwide as it has been considered as a therapy for patients with functional disturbance of several organs. Graft-versus-host disease (GvHD) has been a relevant clinical problem in MvTx ever since the procedure was first performed, but little has been reported about its specific cutaneous features. Our study included all pediatric patients with clinical and histopathologic evidence of cutaneous GvHD who received MvTx between October 1999 and December 2010 in University Hospital La Paz. Seventeen children underwent MvTx at our center during this period of time. Five patients developed cutaneous GvHD (29.4%). The median onset was 45.2 days after transplantation. Acute cutaneous GvHD, consisting of symmetrical maculopapular exanthema with prominent acral erythema and accentuated lesions on the face and pinnae, was clinically suspected and pathologically confirmed in four patients (80%). Three children (60%) experienced disease progression to a formation and a positive Nikolsky sign. Only one girl (20%) showed lichenoid GvHD. The first therapeutic approach was steroids and tacrolimus adjustment; many other drugs were used in refractory cases. Three of the five patients (60%) died with concomitant GvHD, the immediate cause of death being another comorbid disease. Knowledge of the features of cutaneous GvHD in MvTx allows clinicians early recognition and prompt therapeutic intervention that may prevent progression to higher-grade disease and improve outcomes for these patients.

(1) Background: Post-transplant lymphoproliferative disease (PTLD) is a significant complication of solid organ transplantation (SOT). However, there is lack of consensus in PTLD management. Our aim was to establish a present benchmark for comparison between international centers and between various organ transplant systems and modalities; (2) Methods: A cross-sectional questionnaire of relevant PTLD practices in pediatric transplantation was sent to multidisciplinary teams from 17 European center members of ERN TransplantChild to evaluate the centers’ approach strategies for diagnosis and treatment and how current practices impact a cross-sectional series of PTLD cases; (3) Results: A total of 34 SOT programs from 13 European centers participated. The decision to start preemptive treatment and its guidance was based on both EBV viremia monitoring plus additional laboratory methods and clinical assessment (61%). Among treatment modalities the most common initial practice at diagnosis was to reduce the immunosuppression (61%). A total of 126 PTLD cases were reported during the period 2012–2016. According to their histopathological classification, monomorphic lesions were the most frequent (46%). Graft rejection after PTLD remission was 33%. Of the total cases diagnosed with PTLD, 88% survived; (4) Conclusions: There is still no consensus on prevention and treatment of PTLD, which implies the need to generate evidence. This might successively allow the development of clinical guidelines.