Familial LCAT deficiency in a child with nephrotic syndrome.

BACKGROUND: Lecitin cholesterol acyltransferase (LCAT) deficiency comprises a group of rare disorders related to HDL metabolism. These disorders are characterized by ophthalmologic, hematologic, and renal findings. Case diagnosis/treatment: A 15-year-old female who presented with nephrotic syndrome and hypertension was diagnosed with LCAT deficiency by renal biopsy and LCAT enzyme activity. Her edema and hypertension improved with diuretic and antihypertensive therapies. Continued care of her LCAT deficiency is ongoing. CONCLUSION: Although rare, LCAT deficiency should be in the differential diagnosis of nephrotic syndrome in the setting of abnormally low HDL cholesterol levels.

Improved survival over the last decade in pediatric patients requiring dialysis after hematopoietic cell transplantation.

It is not unusual for children to require dialysis for fluid and electrolyte management after hematopoietic cell transplantation (HCT). Previous studies have documented high mortality in children who require dialysis after HCT, but recent data are lacking. The purpose of this study was to compare the incidence of dialysis after pediatric HCT and the survival of patients who received dialysis in 2 decades, 1990-1999 and 2000-2009. A total of 1427 patients age <21 years who underwent a first HCT at the University of Minnesota between January 1990 and December 2009 were reviewed using prospectively collected data from the institutional HCT database. The incidence of dialysis during the first 100 days post-HCT and survival at 1 year post-HCT in the 2 cohorts were determined. Comparisons between patients who did and did not require dialysis were made using the χ(2) and Fisher exact tests as appropriate. Kaplan-Meier estimates and 95% confidence intervals for 1-year post-HCT overall survival were reported by dialysis group and compared using the log-rank test. Predictors of overall survival among patients requiring dialysis were assessed using univariate and multivariate Cox regression analyses. The incidence of dialysis was not significantly different in the 2 cohorts (8.2% for 1990-1999 versus 8.9% for 2000-2009; P = .6326). Patients requiring dialysis were significantly more likely to survive to or past 1 year in the 2000-2009 cohort compared with the 1990-1999 cohort (23% versus 11%; P < .0001). Multivariate analyses found that older age at the time of HCT, primary disease type, pulmonary hemorrhage, and HCT in 1990-1999 were associated with increased mortality in the dialyzed population. The use of cyclosporine was associated with increased survival in the patients who received dialysis. Dialysis is an important complication of pediatric HCT with an incidence that has remained constant over the last 2 decades. Survival was improved in the 2000-2009 cohort regardless of dialysis status. Despite a recent significant reduction in mortality in patients requiring dialysis, mortality remains higher in these patients than in those who do not need dialysis.

Severe paediatric systemic lupus erythematosus nephritis--a single-centre experience.

BACKGROUND: Paediatric patients with systemic lupus erythematosus (SLE) often have severe presentations including lupus nephritis (LN). Few paediatric studies have evaluated the anticardiolipin antibody (aCL) and renal histology. The purpose of this study was to evaluate clinicopathologic features, including aCL, short-term clinical and renal histologic outcomes of paediatric patients with new-onset SLE nephritis. METHODS: We conducted a single centre, retrospective inception cohort study. Charts were reviewed at presentation (initial renal biopsy), 6-month (follow-up biopsy) and 12-month follow-up. RESULTS: The population consisted of 21 patients (median age, 14.5 years): 19/21 were female, 6/21 African American, 3/21 Asian, 9/21 Caucasian and 3/21 Hispanic. At presentation, 19/21 had elevated aCL, 15/21 hypertensive, 12/21 nephrotic and 7/21 required haemodialysis (HD)-2/7 HD patients had thrombotic microangiopathy, 1/7 crescentic glomerulonephritis. Two patients had thromboembolism: both had aCL, were taking oral contraceptives and required HD, one was nephrotic and the other had elevated lupus anticoagulant. Initial biopsies revealed 6/21 ISN/RPS class II nephritis, 3/21 class III, 7/21 class IV and 5/21 class V. Treatment consisted of methylprednisolone, corticosteroids, cyclophosphamide or mycophenolate mofetil. Follow-up biopsies revealed 12/13 to have improved histology. Indication for a follow-up biopsy was severe illness at presentation. At 12-month follow-up, no patients were nephrotic (P < 0.001) or required HD (P < 0.001), and 3/14 had elevated aCL (P < 0.001). CONCLUSION: Elevated aCL, hypertension, nephrotic syndrome and need for HD were common presentations among our paediatric SLE nephritis population. Renal histology and aCL were helpful in the therapeutic management.