Living-Related Donor Kidney Transplant in a Patient With Single Ventricle and Fontan Circulation.

The hemodynamic profile of the Fontan circulation presents challenges that raise questions about candidacy for organ transplantation. We report a case of a 24-year-old male with double-inlet right ventricle and aortic atresia, who suffered bilateral renal cortical necrosis due to neonatal cardiovascular shock, received a live-donor kidney transplant from his mother at age 17, and has diminished yet stable renal function seven years posttransplant.

The Effects of Tacrolimus on T-Cell Proliferation Are Short-Lived: A Pilot Analysis of Immune Function Testing.

Background: Optimal immunosuppression after organ transplant should balance the risks of rejection, infection, and malignancy while minimizing barriers to adherence including frequent or time-sensitive dosing. There is currently no reliable immune function assay to directly measure the degree of immunosuppression after transplantation.

Methods: We developed an immune function assay to mea//sure T-cell proliferation after exposure to immunosuppression in vivo.

Neurological Complications of Renal Disease.

Neurological manifestations related to electrolyte disorders, drug toxicity, and uremia are common in chronic kidney disease (CKD). Seizures and coma are frequent complications of acute renal insufficiency (uremia), whereas peripheral neuropathy and encephalopathy, observed in progressive uremia, are terminal events. Failure to excrete metabolic products causes their accumulation and can lead to severe intoxication.

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting resulting in hypophosphatemia, correspondingly elevated 1,25(OH)2 vitamin D levels, hypercalciuria, and rickets/osteomalacia. Similar, albeit less severe, biochemical changes are observed in heterozygous (het) carriers and indistinguishable from those changes encountered in idiopathic hypercalciuria (IH). Here, we report a review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel SLC34A3 mutations (c.

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6-1/2-year-old female presented with a history of nephrolithiasis.

Implementation of a clinical practice guideline for identification of microalbuminuria in the pediatric patient with type 1 diabetes.

Evidence-based practice is a shift in the health care culture from basing decisions on consensus opinion, past practice, and precedent toward the use of rigorous analysis of scientific evidence using outcomes research and clinical evidence to guide clinical decision making. The development of evidence-based clinical practice guidelines (CPG) is critical to guide the assessment and management of children with diabetes. This article provides an overview of the infrastructure and processes that are crucial to providing evidence-based care in a large urban pediatric diabetes center.

The clinical impact of humoral immunity in pediatric renal transplantation.

The development of anti-donor humoral responses after transplantation associates with higher risks for acute rejection and 1-year graft survival in adults, but the influence of humoral immunity on transplant outcomes in children is not well understood. Here, we studied the evolution of humoral immunity in low-risk pediatric patients during the first 2 years after renal transplantation. Using data from 130 pediatric renal transplant patients randomized to steroid-free (SF) or steroid-based (SB) immunosuppression in the NIH-SNSO1 trial, we correlated the presence of serum anti-HLA antibodies to donor HLA antigens (donor-specific antibodies) and serum MHC class 1-related chain A (MICA) antibody with both clinical outcomes and histology identified on protocol biopsies at 0, 6, 12, and 24 months.

Renal transplantation into a diverted urinary system-is it safe in children?

Purpose: Historically surgeons caring for children with urinary diversion for bladder outlet obstruction have routinely performed undiversion before renal transplantation. We hypothesized that patients undergoing transplantation into a diverted system would have outcomes similar to those undergoing transplantation into a normal bladder. We review the outcomes of patients with and without diversion undergoing kidney transplantation at our institution.

Severe combined immunodeficiency resulting from mutations in MTHFD1.

Folate and vitamin B(12) metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with immunodeficiency. Here we describe the occurrence of severe combined immunodeficiency (SCID) with megaloblastic anemia, leukopenia, atypical hemolytic uremic syndrome, and neurologic abnormalities in which hydroxocobalamin and folate therapy provided partial immune reconstitution. Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives.

Inferior allograft outcomes in adolescent recipients of renal transplants from ideal deceased donors.

Objective: To measure the impact of the Share-35 policy on the allocation of ideal deceased donor kidneys and to examine the impact of age on outcomes after kidney transplantation using ideal donor kidneys.

Background: In the United States, through Share-35, transplant candidates aged 18 years or younger receive priority for the highest-quality deceased donor kidneys. Adolescent (15-18 years) kidney transplant recipients (KTRs), however, may be more susceptible to allograft loss due to elevated rates of acute rejection and a possible increased risk of primary renal disease recurrence.

Solid-organ transplantation in childhood: transitioning to adult health care.

Pediatric solid-organ transplantation is an increasingly successful treatment for solid-organ failure. With dramatic improvements in patient survival rates over the last several decades, there has been a corresponding emergence of complications attributable to pretransplant factors, transplantation itself, and the management of transplantation with effective immunosuppression. The predominant solid-organ transplantation sequelae are medical and psychosocial.

Outcomes in pediatric solid-organ transplantation.

LaR Pediatric solid-organ transplantation is an increasingly successful treatment for organ failure. Five- and 10-yr patient survival rates have dramatically improved over the last couple of decades, and currently, over 80% of pediatric patients survive into adolescence and young adulthood. Waiting list mortality has been a concern for liver, heart, and intestinal transplantation, illustrating the importance of transplant as a life-saving therapy.

Solid organ transplants following hematopoietic stem cell transplant in children.

SOT may be indicated for a select group of pediatric patients who experience permanent organ failure following HSCT. However, there is limited information available about outcomes. We identified eight children at our center who received an SOT following an HSCT.

Longitudinal relations between obesity and hypertension following pediatric renal transplantation.

Obesity and hypertension frequently complicate renal transplantation (RTxp). The objective was to assess relations among obesity, hypertension, and glucocorticoids in pediatric RTxp recipients. A retrospective cohort study was carried out in 141 RTxp recipients, 2-21 years of age, with >or=12 months of follow-up.

Treatment with sirolimus ameliorates tacrolimus-induced autoimmune cytopenias after solid organ transplant.

The development of autoimmune blood cell cytopenias is a potentially life-threatening complication of solid organ transplantation, resulting from T-cell dysregulation from immunosuppressive medications. Conventional treatment with corticosteroids and IVIgG is often unsuccessful as these therapies are unlikely to overcome the T-cell dysregulation. We describe two patients who developed severe autoimmune cytopenias after solid organ transplantation.

Kidney transplantation at the University of Pennsylvania: 1998-2008.

Kidney transplantation at the University of Pennsylvania has grown substantially over the past 11 years. Although our transplant volume has increased primarily as a consequence of multiorgan transplants as well as the utilization of historically "marginal" allografts, our post-transplantation outcomes remain excellent in both children and adults. We attribute these outcomes to technical improvements in tissue typing and donor-recipient crossmatching, modification of immunosuppression protocols, and rigorous donor and recipient selection.

Chromophobe renal cell carcinoma in a pediatric living-related kidney transplant recipient.

Renal cell carcinoma can occur in children who have received renal allografts from adults. Chromophobe renal cell carcinoma is a rare variant of renal carcinoma with distinct histochemical, ultrastructural, and genetic characteristics. We describe the incidental finding of a chromophobe renal cell carcinoma in a 13 1/2-year-old boy 5 years after receiving a living-related renal transplant.

Early use of plasmapheresis for recurrent post-transplant FSGS.

Recurrence of focal segmental glomerulosclerosis (FSGS) in an allograft is a challenging clinical situation because it frequently results in graft loss. We report our experience with early use of plasmapheresis in recurrent FSGS. Of the 18 (33%) children with biopsy-proven FSGS (in their native kidneys) transplanted at our institution, 6 had recurrence (elevated urine protein/creatinine ratios) post transplant and were treated with plasmapheresis.