Genomes and Genes
- An international consensus approach to the management of atypical hemolytic uremic syndrome in childrenChantal Loirat
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Department of Pediatric Nephrology, Université Paris Diderot Sorbonne Paris Cité, Paris, France
Pediatr Nephrol 31:15-39. 2016..We discuss the need for prospective studies to establish evidence-based criteria for the continuation or cessation of anticomplement therapy in patients with and without identified complement mutations. ..
- Thrombotic thrombocytopenic purpura in childrenChantal Loirat
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service de Nephrologie, Universite Paris VII, Paris, France
Curr Opin Pediatr 25:216-24. 2013..Rapid techniques for ADAMTS 13 assays, long-term follow-up of patients, phenotype-genotype analysis, improved therapeutic schedules, and new therapies have emerged...
- [Hemolytic uremic syndrome caused by Shiga-toxin-producing Escherichia coli]Chantal Loirat
Service de Nephrologie, AP HP, Hopital Robert Debre, 75019 Paris, France
Rev Prat 63:11-6. 2013..This prevents the emergence of new cases by withdrawing the suspected food from the market and diffusing the information to the population (return of suspected food)...
- Management of hemolytic uremic syndromeChantal Loirat
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Nephrology Department, 75019 Paris, France
Presse Med 41:e115-35. 2012..Here we review the therapeutic options presently available for the various forms of hemolytic uremic syndrome and show how recent knowledge has changed the therapeutic approach and prognosis of atypical HUS...
- Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in childrenChantal Loirat
Service de Nephrologie Pediatrique, Hopital Robert Debre, Paris, France
Semin Thromb Hemost 32:90-7. 2006..FFP infusions are best used preventively, given that rescue infusions may not prevent central nervous system and renal involvement. It is hoped that plasmatic or recombinant purified ADAMTS13 will be available in the years to come...
- Plasmatherapy in atypical hemolytic uremic syndromeChantal Loirat
Assistance Publique Hopitaux de Paris, Pediatric Nephrology Department, Universite Paris Diderot, Hopital Robert Debre, Paris, France
Semin Thromb Hemost 36:673-81. 2010..We hope complement blockers will offer patients a better chance to avoid ESRD and provide a better quality of life...
- Atypical hemolytic uremic syndromeChantal Loirat
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris VII, Pediatric Nephrology Department, Paris, France
Orphanet J Rare Dis 6:60. 2011..Half of factor I-HUS progress to end-stage renal failure. Conversely, most patients with MCP-HUS have preserved renal function. Anti-factor H antibodies-HUS has favourable outcome if treated early...
- Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulationChantal Loirat
Pediatric Nephrology Department, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Universite Paris 7, Paris, France
Nephrol Dial Transplant 25:3421-5. 2010..A child, who presented atypical haemolytic uraemic syndrome (aHUS) at the age of 1 month, developed cerebral ischaemic events at the age of 10 years...
- Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletionChantal Loirat
Department of Pediatric Nephrology, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris Diderot, Paris, France
Nephrol Dial Transplant 25:3430-3. 2010..We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B)...
- Hemolytic uremic syndrome recurrence after renal transplantationChantal Loirat
Assistance Publique, Hopitaux de Paris, Hopital Robert Debre, Universite Paris, Faculté de Médecine Denis Diderot, Service de Nephrologie, Paris, France
Pediatr Transplant 12:619-29. 2008..Kidney or kidney + liver transplantation with concomitant plasmatherapy need to be evaluated by prospective trials in patients with hereditary complement abnormalities...
- Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in childrenChantal Loirat
Service de Nephrologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Universite Paris VII, 48 Boulevard Serurier, 75019, Paris, France
Pediatr Nephrol 24:19-29. 2009..Therapeutic perspectives are focused on the development of concentrated plasma-derived ADAMTS13 or recombinant ADAMTS13...
- Complement and the atypical hemolytic uremic syndrome in childrenChantal Loirat
Hopitaux de Paris, Universite Paris 7, Hopital Robert Debre, Pediatric Nephrology, Paris, France
Pediatr Nephrol 23:1957-72. 2008..New therapies such as factor H concentrate or complement inhibitors offer hope for the future...
- Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndromeTheresa Kwon
Pediatric Nephrology, Hopital Robert Debre, Paris, France
Nephrol Dial Transplant 23:2088-90. 2008
- Mycophenolate mofetil for steroid-dependent nephrotic syndrome: a phase II Bayesian trialVeronique Baudouin
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Pediatric Nephrology Department, Universite Paris 7, 48 Boulevard Serurier, 75019, Paris, France
Pediatr Nephrol 27:389-96. 2012..MMF reduces relapse rate and steroid dose in children with SDNS and should be proposed before cyclosporine and cyclophosphamide...
- Genotype-phenotype correlations in non-Finnish congenital nephrotic syndromeEduardo Machuca
INSERM, U983, Hopital Necker Enfants Malades, Paris, France
J Am Soc Nephrol 21:1209-17. 2010..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...
- Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndromeMarie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 21:2180-7. 2010..Early specific treatment may lead to favorable outcomes. These data should improve the recognition and diagnosis of this form of aHUS and help identify patients at high risk of a poor outcome...
- Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulationValerie Leroy
Pediatric Nephrology Department, Universite Paris 7, Hopital Robert Debre, Paris, France
Pediatr Nephrol 26:419-24. 2011..These observations highlight the possible combination of genetic and acquired defect in complement control in various subtypes of MPGN, a finding that may influence the treatment strategy in some patients...
- Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndromeAnne Laure Sellier-Leclerc
Service de Nephrologie, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48 Boulevard Serurier, 75 019 Paris, France
J Am Soc Nephrol 18:2392-400. 2007..New therapies are urgently needed, and further research should elucidate the unexplained HUS group...
- Growth in boys with idiopathic nephrotic syndrome on long-term cyclosporin and steroid treatmentValerie Leroy
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service de Nephrologie Pediatrique, Paris, France
Pediatr Nephrol 24:2393-400. 2009..Careful monitoring of growth is recommended, given than up to 25% of patients experienced severe growth retardation during the course of their disease...
- Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndromeOlivia Boyer
INSERM U983, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
J Med Genet 47:445-52. 2010..In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported...
- Cyclophosphamide in steroid-dependent nephrotic syndromeSonia Azib
Pediatric Nephrology Department, Assistance Publique Hopitaux de Paris, Universite Paris 7, Hopital Robert Debre, Paris, France
Pediatr Nephrol 26:927-32. 2011..These findings suggest that despite the wide use of new immunosuppressive agents, a short course of CPO remains an effective second-line therapy in SDNS patients. Optimal efficiency was observed in children over 7.5 years...
- Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two casesTheresa Kwon
Pediatric Nephrology Department, Hopital Robert Debre, Universite Paris, France
Nephrol Dial Transplant 24:2752-4. 2009..These observations show that infectious agents such as varicella-zoster virus may be the trigger of haemolytic uraemic syndrome in patients with complement dysregulation...
- Enteric-coated mycophenolate sodium in de novo pediatric renal transplant patientsPatrick Niaudet
Pediatric Nephrology, Necker Hospital, 161 rue de Sevres, 75743, Paris, Cedex, France
Pediatr Nephrol 24:395-402. 2009..However, a larger, controlled trial is required to confirm these results...
- Rituximab efficiency in children with steroid-dependent nephrotic syndromeAnne Laure Sellier-Leclerc
Pediatric Nephrology Department, Hopital Robert Debre, APHP, Universite Paris VII, 48 Boulevard Serurier, 75019, Paris, France
Pediatr Nephrol 25:1109-15. 2010..Toxicity of rituximab was limited to reversible cytokine shock in 2 patients and reversible neutropenia in 1 patient. No severe infection was observed...
- Recurrence of nephrotic syndrome after renal transplantation: influence of increased immunosuppressionSylvie Nathanson
Pediatric Nephrology Unit, Hopital Armand Trousseau, Paris, France
Pediatr Nephrol 20:1801-4. 2005....
- [Hereditary hemolytic uremic syndromes and thrombotic thrombocytopenic purpura]Chantal Loirat
Service de Nephrologie, Hopital Robert Debre, 48 Boulevard Serrurier, 75019 Paris, Assistance Publique Hopitaux de Paris, Paris, France
Nephrol Ther 2:S149-61. 2006....
- Population pharmacokinetics and Bayesian estimator of mycophenolic acid in children with idiopathic nephrotic syndromeWei Zhao
Department of Paediatric Pharmacology and Pharmacogenetics, Clinical Investigation Centre INSERM, Hopital Robert Debre, Paris, France
Br J Clin Pharmacol 69:358-66. 2010....
- Acute renal failure in a 3-year-old child as part of the drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome following hepatitis AArnaud Garnier
Pediatric Nephrology Unit, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
Pediatr Nephrol 23:667-9. 2008..The final diagnosis was of the syndrome drug reaction with eosinophilia and systemic symptoms or DRESS, induced by cefixime or cotrimoxazole and possibly triggered by the hepatitis A virus infection...
- A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 studyAntoine Labbe
Department of Ophthalmology 3, Quinze Vingts National Eye Center, Paris, France Center for Clinical Investigations INSERM 503, Quinze Vingts National Eye Center, Paris, France Department of Ophthalmology, Ambroise Pare Hospital, AP HP, UFR Paris Ile de France Ouest, University of Versailles Saint Quentin en Yvelines, Versailles, France Electronic address
Mol Genet Metab 111:314-20. 2014..To establish the safety and efficacy of a new gel formulation of cysteamine hydrochloride (CH) eye drops, for the treatment of corneal complications of nephropathic cystinosis...
- Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 casesMarie Agnès Dragon-Durey
INSERM U430, Institut des Cordeliers, Paris, France
J Am Soc Nephrol 15:787-95. 2004..This report emphasizes the variability in the clinical progression of kidney diseases associated with FH deficiencies. Genetic analysis reveals the molecular abnormalities associated with FH deficiencies to be polymorphous...
- Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trialAnne Blanchard
Universite Paris 5, Faculté de Médecine Paris Descartes, Paris, France
Am J Kidney Dis 52:1084-95. 2008..However, they can cause adverse metabolic effects in the long term. In treating hypertension in children, lower thiazide doses have been shown to be as effective and well tolerated...
- Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndromeLubka T Roumenina
Cordeliers Research Center, INSERM, Unite Mixte de Recherche en Santé UMRS 872, Paris, France
Blood 114:2837-45. 2009..Therefore, risk factors for aHUS are not only mutations leading to loss of regulation, but also mutations, resulting in hyperactive C3 convertase...
- Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndromeFrank Bienaime
Cordeliers Research Center, INSERM UMRS 872, Paris, France
Kidney Int 77:339-49. 2010..Our results emphasize the necessity of genetic screening for all susceptibility factors in patients with aHUS...
- Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndromeAgnes Veyradier
INSERM Unité 143, Le Kremlin Bicetre, Service de Nephrologie, Hopital Robert Debre, Tours, France
J Pediatr 142:310-7. 2003..Study design We measured VWF-cp activity in the plasma of 64 children with either (d+) HUS (n = 41) or (d-) HUS (n = 23)...
- The risk of recurrence of hemolytic uremic syndrome after renal transplantation in childrenChantal Loirat
Service de Nephrologie, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Pediatr Nephrol 18:1095-101. 2003....
- Relationship between CD8+ T-cell phenotype and function, Epstein-Barr virus load, and clinical outcome in pediatric renal transplant recipients: a prospective studyVeronique Baudouin
Department of Nephrology, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Université Denis Diderot Paris VII, Paris, France
Transplantation 77:1706-13. 2004..The authors studied the relationship between the dynamics of Epstein-Barr virus (EBV) load, CD8 T-cell activation and differentiation, and EBV-associated symptoms in 25 children after kidney transplantation (Tx)...
- Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndromeAurélie Philippe
Inserm U574, Hopital Necker Enfants Malades, Paris, France
J Am Soc Nephrol 19:1871-8. 2008..The presence of at least one "mild" mutation in these patients likely explains the later onset and milder course of disease. These results broaden the spectrum of renal disease related to nephrin mutations...
- Mutations in complement C3 predispose to development of atypical hemolytic uremic syndromeVeronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France
Blood 112:4948-52. 2008..We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS...
- Targeted strategies in the prevention and management of atypical HUS recurrence after kidney transplantationJulien Zuber
Universite Paris Descartes, Sorbonne Paris Cité, Paris, France Service de Transplantation Rénale adulte, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, France Electronic address
Transplant Rev (Orlando) 27:117-25. 2013..A global therapeutic approach should thus attempt to reduce exposure to these triggers. ..
- Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric studyMarion Chapal
Nephrology Department, Institut de Transplantation Urologie et Nephrologie, CHU de Nantes, Nantes, France
Nephrol Dial Transplant 27:2083-8. 2012..Here, we report the results and outcome of renal and/or liver transplantation in a series of patients with ARPKD...
- [Hemolytic-uremic syndrome: what is the mechanism?]Veronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 75908 Paris Cedex 15
Rev Prat 58:2093-6. 2008..In this context, the introduction of gene study considerably accelerated advances...
- New insights into postrenal transplant hemolytic uremic syndromeJulien Zuber
Service de Transplantation Rénale Adulte, Universite Paris Descartes, Hopital Necker, 161 rue de Sevres, Paris F 75015, France
Nat Rev Nephrol 7:23-35. 2011..This finding suggests that the burden of endothelial injury in a post-transplantation setting may trigger de novo HUS in the presence of mild genetic susceptibility to HUS...
- Inhibitory ITAM signaling by Fc alpha RI-FcR gamma chain controls multiple activating responses and prevents renal inflammationYutaka Kanamaru
INSERM Unité 699, Universite Paris 7 Denis Diderot, Faculte de Medecine, Site Xavier Bichat, 16 rue Henri Huchard, Paris, France
J Immunol 180:2669-78. 2008..They also identify anti-FcalphaRI Fab as a new potential therapeutic tool for preventing progression of renal inflammatory diseases...
- A humanized mouse model of idiopathic nephrotic syndrome suggests a pathogenic role for immature cellsAnne Laure Sellier-Leclerc
INSERM U699, Faculté de Médecine Denis Diderot, Universite Paris 7, France
J Am Soc Nephrol 18:2732-9. 2007..Therefore, our data suggest that the cells responsible for the pathogenesis of idiopathic nephrotic syndrome are more likely to be immature differentiating cells rather than mature peripheral T cells...
- Predictive features of severe acquired ADAMTS13 deficiency in idiopathic thrombotic microangiopathies: the French TMA reference center experiencePaul Coppo
Service d Hématologie et de Thérapie Cellulaire, AP HP, Hopital Saint Antoine, Paris, France
PLoS ONE 5:e10208. 2010..3%, sensitivity of 98.8%, and specificity of 48.1%. Our criteria should be useful to identify rapidly newly diagnosed patients with an acquired ADAMTS13 deficiency to better tailor treatment for different pathophysiological groups...
- Escherichia coli strains causing urinary tract infection in uncircumcised infants resemble urosepsis-like adult strainsStephane Bonacorsi
Laboratoire d études de génétique bactérienne dans les infections de l enfant EA3105, Universite Denis Diderot Paris 7, Paris, France
J Urol 173:195-7; discussion 197. 2005..In an attempt to unravel further the pathophysiology of UTI in this age group we used molecular methods to characterize Escherichia coli strains responsible for community acquired UTI in male and female infants and in adults...
- In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosisAntoine Labbe
Department of Ophthalmology III, Quinze Vingts National Ophthalmology Hospital, 28 rue de Charenton, Paris, France
Ophthalmology 116:870-6. 2009..To analyze the corneas of patients with nephropathic cystinosis using in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT)...
- Observations of a large Dent disease cohortAnne Blanchard
University Paris Descartes, Faculty of Medicine, Paris, France INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France Assistance Publique Hôpitaux de Paris, European Georges Pompidou University Hospital, Centre of Clinical Research, Paris, France Reference Centre of Hereditary Renal Disease of the Child and Adult MARHEA, Paris, France Electronic address
Kidney Int 90:430-9. 2016..Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease. ..
- Adult social and professional outcomes of pediatric renal transplant recipientsHélène Mellerio
1 INSERM, CIE 5, Paris, France 2 Unité d Epidémiologie Clinique, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France 3 Université Paris Diderot, Sorbonne Paris Cité, Paris, France 4 Agence de la Biomédecine, Direction médicale et scientifique, Saint Denis La Plaine, France 5 Service de Néphrologie, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France 6 Address correspondence to Chantal Loirat, M D, Pediatric Nephrology Department, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Transplantation 97:196-205. 2014..This nationwide French cohort study documented the socioprofessional outcomes of adults who underwent kidney transplantation before age 16 years between 1985 and 2002...
- Sudden blindness caused by anterior ischemic optic neuropathy in 5 children on continuous peritoneal dialysisAnne Laure Lapeyraque
Service de Néphrologie and the Service d Ophtalmologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
Am J Kidney Dis 42:E3-9. 2003..Because the prognosis of ischemic optic neuropathy is very poor, diagnosis and treatment of chronic hypovolemia in children on continuous peritoneal dialysis is essential to prevent such a devastating complication...
- A pediatric cluster of Shigella dysenteriae serotype 1 diarrhea with hemolytic uremic syndrome in 2 families from FranceVéronique Houdouin
Services de Microbiologie, Hopital Robert Debre, Paris, France
Clin Infect Dis 38:e96-9. 2004..On the basis of our findings, the choice of antimicrobial treatment for infections with S. dysenteriae serotype 1 should take into account widespread drug resistance and the risk of HUS...
- Anti-factor H autoantibody-associated hemolytic uremic syndrome: the earlier diagnosed and treated, the betterChantal Loirat
1 Department of Pediatric Nephrology, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France 2 Université Paris Diderot, Sorbonne Paris Cité, Paris, France
Kidney Int 85:1019-22. 2014....
- Anaphylactic shock caused by immunoglobulin E sensitization after retreatment with the chimeric anti-interleukin-2 receptor monoclonal antibody basiliximabVeronique Baudouin
Department of Nephrology, Hopital Robert Debre, Paris, France
Transplantation 76:459-63. 2003..We therefore searched for the presence of anti-basiliximab immunoglobulin (Ig) E in this patient...
- Pharmacokinetics of ganciclovir in pediatric renal transplant recipientsDaolun Zhang
Department of Pediatric Pharmacology and Pharmacogenetics, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
Pediatr Nephrol 18:943-8. 2003..o. GCV (50 mg/kg per 12 h) were administered and were associated with trough levels over 0.5 microg/ml. In 1 patient who received an erroneously low dosage p.o., CMV resistance to GCV appeared, requiring foscarnet...
- In vivo expression of putative LMX1B targets in nail-patella syndrome kidneysLaurence Heidet
Inserm U574, Universite Rene Descartes, Hopital Necker Enfants Malades, Paris, France
Am J Pathol 163:145-55. 2003..These findings indicate that heterozygous mutations of LMX1B do not appear to dramatically affect the expression of type IV collagen chains, podocin, or CD2AP in NPS patients...
- Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesisOlivier Gribouval
INSERM U983, Faculté de Médecine Paris Descartes, Universite Paris Descartes, Paris, France
Hum Mutat 33:316-26. 2012..The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis...
- Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney diseaseErick Denamur
Assistance Publique Hopitaux de Paris, Universite Paris Diderot, Hopital Robert Debre, Laboratoire de Biochimie Genetique, INSERM U722, Paris, France
Kidney Int 77:350-8. 2010..Their absence, however, does not guarantee survival to the neonatal period...
- Enhanced expression of the CD71 mesangial IgA1 receptor in Berger disease and Henoch-Schönlein nephritis: association between CD71 expression and IgA depositsElie Haddad
Service de Nephrologie, Service de Sante Publique, EA 3102, Université Paris 7 and Service de Pathologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 14:327-37. 2003..However, the association between IgA deposits and CD71 expression and their co-localization in the mesangium provide strong evidence that CD71 is a major IgA receptor on mesangial cells...
- WT1 splice site mutation in a 46,XX female with minimal-change nephrotic syndrome and Wilms' tumourChantal Loirat
Service de Nephrologie, Hopital Robert Debre, Paris, France
Nephrol Dial Transplant 18:823-5. 2003
- Clinical quiz. Loin pain haematuria syndromeElie Haddad
Service de Nephrologie, Hopital Robert Debre, Paris, France
Pediatr Nephrol 17:217-9. 2002
- Renal transplantation in HUS patients with disorders of complement regulationLothar Bernd Zimmerhackl
Univ Klinik für Kinder und Jugendheikunde, Innsbruck, Austria
Pediatr Nephrol 22:10-6. 2007..espn.ucwm.ac.uk . On no account should live related donation take place unless the risks of graft loss are understood. International collaboration to identify safer ways of transplanting these challenging patients is urgently needed...
- Multicenter trial of everolimus in pediatric renal transplant recipients: results at three yearRobert Ettenger
Department of Pediatrics, Mattel Children s Hospital, University of California Los Angeles, Los Angeles, CA 90095 1752, USA
Pediatr Transplant 12:456-63. 2008..4 mg/dL). This is the first long-term prospective study to demonstrate that a regimen of everolimus, cyclosporine, and corticosteroids provides good efficacy, tolerability, and safety in de novo pediatric renal transplant patients...
- Prospective, randomized trial comparing short and long intravenous antibiotic treatment of acute pyelonephritis in children: dimercaptosuccinic acid scintigraphic evaluation at 9 monthsFrançois Bouissou
Nephrologie Pediatrique, Hopital des Enfants, Université Paul Sabathier, Centre Hospitalier Universitaire Purpan, Toulouse, France
Pediatrics 121:e553-60. 2008....
- Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndromeMarie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France
J Am Soc Nephrol 16:555-63. 2005..This new mechanism of functional FH deficiency may lead to the design of new approaches of diagnosis and treatment with a particular interest in plasma exchanges or immunosuppressive therapies...
- Epidemiology, clinical presentation, and pathophysiology of atypical and recurrent hemolytic uremic syndromeL Bernd Zimmerhackl
Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria
Semin Thromb Hemost 32:113-20. 2006..Despite continued efforts, transplantation is not recommended at present for these patients. Living-related transplantation should be abandoned. New therapeutic strategies are urgently needed...
- A multicenter, open-label, pharmacokinetic/pharmacodynamic safety, and tolerability study of basiliximab (Simulect) in pediatric de novo renal transplant recipientsGisela Offner
Kinderklinik der Medizinische Hochschule, Hannover, Germany
Transplantation 74:961-6. 2002..We report on the safety and preliminary efficacy of basiliximab in pediatric de novo renal transplant recipients...
- A rational dosing algorithm for basiliximab (Simulect) in pediatric renal transplantation based on pharmacokinetic-dynamic evaluationsJohn M Kovarik
Novartis Pharmaceuticals, Basel, Switzerland
Transplantation 74:966-71. 2002..The pharmacokinetics and immunodynamics of basiliximab were assessed in 39 pediatric de novo kidney allograft recipients to rationally chose a dose regimen for this age group...
- Everolimus in pediatric de nova renal transplant patientsPeter F Hoyer
Department of Pediatric Nephrology, Universitätsklinik Essen, Hufelandstr 55, D 45122 Essen, Germany
Transplantation 75:2082-5. 2003..The steady-state pharmacokinetics of everolimus were longitudinally assessed in pediatric de novo kidney allograft recipients during a 6-month period...
- Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS)Rasheed Gbadegesin
Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
Nephrol Dial Transplant 23:1291-7. 2008..Mutations in two other genes WT1 and LAMB2 may also cause IDMS. We therefore determine in this study the relative frequency of mutations in PLCE1, WT1 or LAMB2 as the cause of IDMS in a worldwide cohort...
- Darbepoetin, effective treatment of anaemia in paediatric patients with chronic renal failureJean Luc André
Pediatric Nephrology Unit, Hôpital d Enfants, CHU de Nancy, rue du Morvan, 54511, Vandoeuvre les Nancy, France
Pediatr Nephrol 22:708-14. 2007..92) and 0.34 (95% CI: 0.16, 0.52) microg/kg per week. Our results indicate the doses of DA necessary to treat CRF patients aged 11 years to 18 years. DA was an effective treatment to stabilise CRF patients at extended dosing intervals...
- Schimke immunoosseous dysplasia: suggestions of genetic diversityJ Marietta Clewing
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Mutat 28:273-83. 2007..This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD...
- [Corticosensitive nephrotic syndrome (or nephrosis) in children. Therapeutic guideline proposed by the Pediatric Society of Nephrology]Etienne Berard
Service de Pediatrie, hôpital de l Archet II, 151 avenue Saint Antoine de Ginestière, BP 3079, 06202 Nice cedex, France
Nephrol Ther 1:150-6. 2005
- Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndromeVeronique Fremeaux-Bacchi
Assitance Publique Hôpitaux de Paris, Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, Paris Cedex 15, France
J Am Soc Nephrol 17:2017-25. 2006....
- Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 geneRosa Vargas-Poussou
Centre Hospitalier Universitaire de Rouen, Département de Pédiatrie Médicale, and Faculté de Médecine et de Pharmacie, Rouen, France
J Am Soc Nephrol 17:1437-43. 2006..The data also demonstrate that mutations in either of these genes may cause early deafness, and they highlight the importance of genetic screening for recessive forms of dRTA independent of hearing status...
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 30:215-20. 2002..These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease...
- Glucocorticoid pharmacokinetics and growth retardation in children with renal transplantsClaire Chavatte
Service Pharmacie, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Pediatr Nephrol 19:898-904. 2004..We, therefore, do not recommend using glucocorticoid pharmacokinetics to predict growth retardation in children with renal transplantation...
- Surveillance of hemolytic uremic syndrome in children less than 15 years of age, a system to monitor O157 and non-O157 Shiga toxin-producing Escherichia coli infections in France, 1996-2006Emmanuelle Espié
Institut de Veille Sanitaire, Saint Maurice, France
Pediatr Infect Dis J 27:595-601. 2008....