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Laverdure N.,Service dHepato gastroenterologie et nutrition pediatrique | Scholtes-Brunel C.,Service de Virologie | Rivet C.,Service dHepato gastroenterologie et nutrition pediatrique | Heissat S.,Service dHepato gastroenterologie et nutrition pediatrique | And 5 more authors.
Journal of Clinical Virology | Year: 2015

Background: Hepatitis E is an emerging disease in developed countries and is usually asymptomatic, particularly in children. Chronic infection is possible in immunocompromised individuals. In the context of a liver transplant, it can simulate a rejection. In this case, antiviral therapy may be considered, thus highlighting the need to diagnose hepatitis E virus (HEV) infection in this population. Objectives: Given the lack of data in France, we have studied the the prevalence of antibodies to HEV in the paediatric liver transplant population. Study design: This was a retrospective study, carried out in Lyon between 1st January 2010 and 31 May 2013. HEV serology (anti-HEV IgM &IgG) and HEV PCR were studied in 96 children who had undergone liver transplants (84 isolated liver and 12 combined liver and kidney transplants). Results: Eight patients (8.3%; 62.5% girls; mean age:12.3 years) were HEV seropositive. The mean period since their transplantation was 10 years (range:2-21.8 years). Biliary atresia was the principal indication for transplantation. Seven of these eight children had received liver transplants. There were no differences between the epidemiological and clinical data concerning these patients and the remainder of the study population, particularly with respect to immunosuppression(7/8 tacrolimus; 50% dual immunosuppression). No cases of chronic hepatitis E were found, but 1/8 had chronic cytolysis(EBV&adenovirus infection). In all the patients tested(4/8), seroconversion had occurred after the transplant. There was no significant differences between the age groups in this study. Conclusions: This study showed that in France, the prevalence of antibodies to HEV in paediatric liver and combined liver and kidney transplant patients is 8.3%, as has been found by other European authors. © 2015 Elsevier B.V.


Machuca E.,French Institute of Health and Medical Research | Machuca E.,University of Santiago de Chile | Benoit G.,French Institute of Health and Medical Research | Benoit G.,University of Montréal | And 12 more authors.
Journal of the American Society of Nephrology | Year: 2010

Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presentation, kidney histology, and disease progression in non-Finnish CNS cases by mutational screening in 107 families (117 cases) by sequencing the entire coding regions of NPHS1, NPHS2, PLCE1, WT1, LAMB2, PDSS2, COQ2, and NEPH1. We found that CNS describes a heterogeneous group of disorders in non-Finnish populations. We identified nephrin and podocin mutations in most families and only rarely found mutations in genes implicated in other hereditary forms of NS. In approximately 20% of cases, we could not identify the underlying genetic cause. Consistent with the major role of nephrin at the slit diaphragm, NPHS1 mutations associated with an earlier onset of disease and worse renal outcomes than NPHS2 mutations. Milder cases resulting from mutant NPHS1 had either two mutations in the cytoplasmic tail or two missense mutations in the extracellular domain, including at least one that preserved structure and function. In addition, we extend the spectrum of known NPHS1 mutations by describing long NPHS1 deletions. In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders. Copyright © 2010 by the American Society of Nephrology.


PubMed | Service de gynecologie, Service de gastro enterologie, Service de pediatrie generale, Nancy University Hospital Center and 37 more.
Type: Journal Article | Journal: Geriatrie et psychologie neuropsychiatrie du vieillissement | Year: 2016

The number of serum 25-hydroxyvitamin D (25OHD) assays has increased tenfold in France in less than 10 years, sometimes for invalidated reasons. In 2013, the French National Authority for Health (Haute autorit de sant, or HAS) limited the indications for serum 25OHD measurements to rickets/osteomalacia, older adults with recurrent falls, monitoring of kidney transplant in adults, and surgical treatment of obesity in adults. Our aim here was to note that other indications for serum 25OHD measurements are supported by previous literature and by a number of national and international recommendations, in particular the following: any situation of bone fragility, any chronic renal failure <45 mL/min/1.73m


PubMed | Service de nephrologie pediatrique, University of Paris Pantheon Sorbonne, Service dhematologie biologique and Hopital Robert Debre
Type: Journal Article | Journal: Annales de biologie clinique | Year: 2016

We report the case of a 2 year-old boy hospitalized into the emergency room for influenza pneumonia infection. The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure. First, a diagnosis of hemolytic uremic syndrome (HUS) has been judiciously suggested due to the classical triad: kidney failure, hemolytic anemia and thrombocytopenia. But, strikingly, blood smears do not exhibit schizocytes, but instead ghosts and hemighosts, some characteristic features of a glucose-6-phosphate dehydrogenase deficiency. Our hypothesis has been confirmed by enzymatic dosage and molecular biology. The unusual initial aplastic feature of this anemia could be the result of a transient erythroblastopenia due to the viral agent, at the origin of the G6PD crisis on a background of a major erythrocyte anti-oxydant enzyme defect. This case of G6PD defect points out the continuously importance of the cytology, which was able to redirect the diagnosis by the hemighost and ghost detection.


Bensman A.,University Paris Est Creteil | Niaudet P.,Service de Nephrologie Pediatrique
Pediatric Nephrology | Year: 2010

It has been reported (this issue Pediatric Nephrology) that cyclosporine A (CyA) therapy in combination with corticosteroids, angiotensin-converting enzyme inhibitor, and an angiotensin receptor blocker decreased proteinuria in three patients with nephrotic syndrome (NS) due to WT1 mutations. Treatment with calcineurin inhibitors were found to induce a partial remission of proteinuria in several other children with genetic forms of NS, such as mutation in the podocine and in the phospholipase C epsilon gene. CyA therapy has also been reported to be beneficial to patients with Alport syndrome. Recent data have shown that the antiproteinuric effect of CyA in these cases may be due to a non-immunologic mechanism. CyA exerts an antiproteinuria effect by preventing the degradation of the actin organizing protein synaptodpodin and by a downregulation of TRPC6. This mechanism leads to the stabilization of the actin cytoskeleton in the kidney podocytes. This beneficial effect of CyA is interesting, but long-term results regarding function and nephrotoxicity are still missing. © IPNA 2010.


Benoit G.,French Institute of Health and Medical Research | Benoit G.,University of Montréal | Machuca E.,French Institute of Health and Medical Research | Machuca E.,University of Chile | And 3 more authors.
Annals of the New York Academy of Sciences | Year: 2010

A Mendelian inheritance underlies a nonnegligible proportion of hereditary kidney diseases, suggesting that the encoded proteins are essential for maintenance of the renal function. The identification of genes involved in congenital anomalies of the kidney and in familial forms of nephrotic syndrome significantly increased our understanding of the renal development and kidney filtration barrier physiology. This review will focus on the classical phenotype and clinical heterogeneity observed in the monogenic forms of these disorders. In addition, the role of susceptibility genes in kidney diseases with a complex inheritance will also be discussed. © 2010 New York Academy of Sciences.


Temme J.,University of Gottingen | Peters F.,Erasmus University Rotterdam | Lange K.,University of Gottingen | Pirson Y.,Cliniques Universitaires Ucl Of Saint Luc Uclstluc | And 7 more authors.
Kidney International | Year: 2012

We studied here the clinical course of heterozygous carriers of X-linked Alport syndrome and a subgroup of patients with thin basement membrane disease due to heterozygous autosomal recessive Alport mutations whose prognosis may be worse than formerly thought. We analyzed 234 Alport carriers, including 29 with autosomal recessive mutations. Using Kaplan-Meier estimates and log-rank tests, autosomal and X-linked carriers were found to have similar incidences of renal replacement therapy, proteinuria, and impaired creatinine clearance. Further, age at onset of renal replacement therapy did not differ between X-chromosomal and autosomal carriers. Both groups showed an impaired life expectancy when reaching renal replacement therapy. RAAS inhibition significantly delayed the onset of end-stage renal failure. Not only carriers of X-linked Alport mutations but also heterozygous carriers of autosomal recessive mutations were found to have an increased risk for worse renal function. The risk of end-stage renal disease in both groups affected life expectancy, and this should cause a greater alertness toward patients presenting with what has been wrongly termed 'familial benign hematuria.' Timely therapy can help to delay onset of end-stage renal failure. Thus, yearly follow-up by a nephrologist is advised for X-linked Alport carriers and patients with thin basement membrane nephropathy, microalbuminuria, proteinuria, or hypertension. © 2012 International Society of Nephrology.


Zuber J.,University of Paris Descartes | Le Quintrec M.,Service de Nephrologie et Transplantation Renale | Morris H.,Columbia University | Fremeaux-Bacchi V.,Laboratoire dImmunologie | And 2 more authors.
Transplantation Reviews | Year: 2013

Atypical hemolytic and uremic syndrome (aHUS) is associated with a high rate of recurrence and poor outcomes after kidney transplantation. Fortunately, recent advances in the understanding of the pathogenesis of aHUS have permitted an individualized risk assessment of post-transplant recurrence. Acquired or inherited dysregulation of the alternative complement pathway, thought to be the driving force of the disease, is identified in most aHUS patients. Notably, depending on the mutations involved, the risk of recurrence greatly varies, highlighting the importance of undertaking etiological investigations prior to kidney transplantation. In those with moderate to high risk of recurrence, the use of a prophylactic therapy, consisting in either plasmapheresis or eculizumab therapies, represents a major stride forward in the prevention of aHUS recurrence after kidney transplantation. In those who experience aHUS recurrence, a growing number of observations suggest that eculizumab therapy outperforms curative plasma therapy. The optimal duration of both prophylactic and curative therapies remains an important, yet unaddressed, issue. In this respect, the kidney transplant recipients, continuously exposed to endothelial-insulting factors, referred here as to triggers, might have a sustained high risk of recurrence. A global therapeutic approach should thus attempt to reduce exposure to these triggers. © 2013 Elsevier Inc.


Jacquet C.,Service de Neurologie Pediatrique | Garnier A.,Service de Nephrologie Pediatrique | Cheuret E.,Service de Neurologie Pediatrique
Neuropediatrics | Year: 2016

Steroids as a foremost therapy are widely used in pediatric optic neuritis (ON). Yet, this treatment is not standardized to date. Some children show a resistance to the classic treatment by steroids. Although plasma exchange (PE) and immunoadsorption (IA) techniques are increasingly being adopted and lead to good results in resistant cases in adult patients, very few studies have shown interest in treating ON when steroids have failed. In this study, we report four observations of children, two of whom are treated by PE and two by IA techniques, describing the treatment protocols together with the side effects observed. © 2016 Georg Thieme Verlag KG Stuttgart New York.


Deschenes G.,Service de Nephrologie Pediatrique
Medecine Therapeutique Medecine de la Reproduction, Gynecologie et Endocrinologie | Year: 2010

Unilateral multicystic dysplastic kidney is the most drastic anomaly of the metanephros development. The frequency of the disease has been estimated at 1/4,300 live births. The main concerns of this disease are the follow-up of the involution of the cystic structure and the development of a compensatory hypertrophy of the contralateral kidney, the risk of a contralateral urinary tract malformation and an ipsilateral genital malformation in male as well as in female, the risk of a nephron reduction with hypertension and the progression to chronic renal failure, the risk of an association to a mutation in the HNF1-β gene. The risk to develop a neoplasy in the cystic structure is likely to be similar to those of the general population. The post natal follow-up has to deal with these different issues and to select patients that will need long term follow-up at adult age.

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