Publications by authors named "Julie Tenenbaum"
Article Synopsis
- - Atypical hemolytic uremic syndrome (aHUS) is a condition caused by issues with the complement system, particularly due to Factor H deficiency, and is typically treated with eculizumab for life.
- - Two young patients with Factor H deficiency on long-term eculizumab therapy exhibited unusual bone issues, including pain and deformities, with diagnostic imaging revealing active bone remodeling and C3c accumulation.
- - The bone alterations observed may either be a side effect of eculizumab treatment or a result of the deficiency of Factor H, indicating a need for further research into the bone health of aHUS patients.
Background: Pediatric ANCA vasculitis is a rare group of diseases with a scarcity of data in children. Annual incidence appeared to increase in the last several years, placing higher interest in the clinical and therapeutical outcomes of the disorder. Also, the growing use of rituximab questions the latest outcomes in these diseases.
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- This case study discusses a rare instance of cardiac and neurological complications in a 27-month-old girl diagnosed with hemolytic uremic syndrome caused by Shiga-like toxin-producing Escherichia coli, presenting symptoms like diarrhea and seizures.
- The girl experienced severe neurological impairment and developed pericardial effusion, which is a rare complication in this syndrome.
- An analysis of the effusion revealed the presence of human herpesvirus-6B, indicating a primary infection that complicated her condition, highlighting the need for further investigation in similar cases.
The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied.
View Article and Find Full Text PDFBackground: Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. We aimed to assess the treatment and outcome of patients with CNS in France.
Methods: We conducted a nationwide retrospective study on 55 consecutive children born between 2000 and 2014 treated for non-infectious CNS.
Aims: The use of mycophenolate mofetil (MMF) in children with systemic lupus erythematosus (SLE) is increasing. However, the clinical benefit of its monitoring has been scarcely studied, and little is known about its pharmacokinetics in this context. The objectives of the present study were: (i) to describe mycophenolic acid (MPA, the active moiety of MMF) pharmacokinetics, (ii) to develop a Bayesian estimator (BE) allowing the determination AUC (area under the curve) from a limited number of blood samples and (iii) to explore the relationships between exposure indices to MPA and the clinical status in children with SLE.
View Article and Find Full Text PDFPatients having the nephrogenic syndrome of inappropriate antidiuresis present either the R137C or R137L V2 mutated receptor. While the clinical features have been characterized, the molecular mechanisms of functioning of these two mutants remain elusive. In the present study, we compare the pharmacological properties of R137C and R137L mutants with the wild-type and the V2 D136A receptor, the latter being reported as a highly constitutively active receptor.
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