Turner syndrome and autosomal dominant polycystic kidney disease.

Turner syndrome is a chromosomal disorder that involves multiple organ systems and is typically associated with short stature. A multidisciplinary approach with regular screening and surveillance is key to managing this condition's multiple comorbidities. We present a case of a young girl with Turner syndrome and associated short stature on growth hormone treatment who presented with cystic renal disease found to be autosomal dominant kidney disease. We propose reevaluation of renal screening guidelines in this population due to the potential association of growth hormone and cyst proliferation.

Refractory rhabdomyolysis responsive to corticosteroid therapy.

Rhabdomyolysis is a severe form of myopathy and a relatively common condition affecting the pediatric population. Early and aggressive intravenous volume expansion remains the mainstay of rhabdomyolysis treatment in both children and adults to minimize potential serious complications, including heme-induced acute kidney injury and metabolic abnormalities. We describe a 15-year-old boy with a previous hospital admission for rhabdomyolysis who presented with tea-colored urine, muscle cramps, and weakness with significant elevation of creatinine kinase (CK) following a viral illness. Due to minimal response to aggressive intravenous fluid therapy, intravenous methylprednisolone was administered, leading to a dramatic decrease in the CK level and improvement in his clinical symptoms. Genetic analysis revealed a mutation in the BIN1 gene diagnostic of congenital centronuclear myopathy.

Urinary bladder rupture years after excision of urachal remnant.

A 13-year-old boy presented with acute kidney injury, abdominal discomfort, and distention secondary to urinary ascites. He had undergone a robotic-assisted laparoscopic excision of a urachal cyst 5 years prior to presentation. Further examination revealed decreased urine output, elevated serum creatinine, and hyperkalemia. He was diagnosed with rapidly progressive glomerulonephritis requiring hemodialysis. Further investigation of ascites fluid demonstrated significantly elevated creatinine consistent with urine. A computed tomography cystogram demonstrated an intraperitoneal bladder rupture. He underwent an emergent surgical cystorrhaphy with significant improvement.

Efficacy of Extended Valganciclovir Prophylaxis in Preventing Cytomegalovirus Infection in Pediatric Kidney Transplantation.

Cytomegalovirus (CMV) is one of the most frequent opportunistic infection in renal transplant (RTx) recipients. Valganciclovir (VGC) has been showed to be safe and highly effective in prophylaxis of CMV infection in RTx recipients. Recently, an increase in delayed onset CMV disease has been noted with some arguing that longer prophylaxis may decrease the late-onset disease. We retrospectively tested the hypothesis that extended term prophylaxis (ETP) of VGC for 12 months is more effective than short term prophylaxis (STP) of 6 months in preventing CMV infection and disease in pediatric RTx performed at the University of Florida from July 2003 to December 2010. In this period, all recipients underwent prospective CMV PCR (Polymerase Chain Reaction) monitoring and were maintained on similar immunosuppression. Eighty six patients received RTx during that period. All eligible subjects had to have at least 12 months of graft survival and 18 months of follow up, leaving 73 eligible subjects in final study group. CMV infection or disease occurred in 6/29 (20%) in the STP group vs 6/44 (14%) in the ETP group with no statistical significant difference (P= 0.42). Donor positive/recipients negative CMV serology status (D+/R-) were associated with a higher risk of CMV infection in both univariate and multivariate analysis (P=0.01). Anemia and Leucopenia directly associated with VGC were similar in both groups (P=0.58 and P=0.2 respectively). Biopsy-proven acute rejection was also non-significant in both groups (P=0.39). Although ETP for CMV from 6 months to 12 months is safe and has minimal adverse effect, it did not reduce CMV infection or disease. Further controlled studies in pediatrics age group are considered to compare longer versus shorter periods of prophylaxis and their impact on prevention of CMV infection, resistance, cost, and toxicity.

Ureteral Stent Placement Increases the Risk for Developing BK Viremia after Kidney Transplantation.

The placement of ureteral stent (UrSt) at kidney transplantation reduces major urological complications but increases the risk for developing nephropathy from the BK virus. It is unclear whether UrSt placement increases nephropathy risk by increasing risk of precursor viral replication or by other mechanisms. We retrospectively investigated whether UrSt placement increased the risk for developing BK Viremia (BKVM) in adult and pediatric kidney transplants performed at the University of Florida between July 1, 2007, and December 31, 2010. In this period all recipients underwent prospective BKV PCR monitoring and were maintained on similar immunosuppression. Stent placement or not was based on surgeon preference. In 621 transplants, UrSt were placed in 295 (47.5%). BKVM was seen in 22% versus 16% without UrSt (P = 0.05). In multivariate analyses, adjusting for multiple transplant covariates, only UrSt placement remained significantly associated with BKVM (P = 0.04). UrSt placement significantly increased the risk for BKVM. Routine UrSt placement needs to be revaluated, since benefits may be negated by the need for more BK PCR testing and potential for graft survival-affecting nephritis.