Genomes and Genes
- 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...
- Organ allocation in pediatric transplantation in FranceC Loirat
Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
Pediatr Nephrol 16:964-70. 2001..Many children still die on the waiting list for thoracic organ transplantation...
- [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....
- [Post-diarrhea hemolytic-uremic syndrome: clinical aspects]C Loirat
Service de Nephrologie, Hopital Robert Debre, 48, bd Serurier, 75019 Paris, France
Arch Pediatr 8:776s-784s. 2001..The role of VTEC in D + HUS makes the disease a public health problem. Preventive measures are essential...
- [Chronic renal insufficiency in children]C Loirat
Service de néphrologie Hôpital Robert Debré 75019 Paris
Rev Prat 51:410-6. 2001..Renal transplantation is the best treatment of end-stage renal failure in children, as it offers them a practically normal life, with the only obligation of absorbing medications every day...
- 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....
- The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndromeM A Dragon-Durey
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, Paris, France
J Med Genet 46:447-50. 2009..We tested the CFHR1 deletion for association with aHUS in a population of French aHUS cases and controls. Furthermore, we examined the effect of the deletion in the context of known aHUS risk factors...
- Post graft development of short children treated with growth hormone before kidney graftD Simon
Pediatric Endocrinology and Diabetology Unit, Robert Debre Hospital, 48 Boulevard Serurier, F 15019 Paris, France
Pediatr Nephrol 13:723-9. 1999..Reinitiation of rhGH therapy after transplantation should be considered in order to complete catch-up growth to target height in prepubertal children...
- The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohortsV Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France
J Med Genet 42:852-6. 2005..A characteristic feature of both MCP and CFH associated HUS is reduced penetrance and variable inheritance; one possible explanation for this is that functional changes in complement proteins act as modifiers...
- Multicenter trial of one HLA-DR-matched or mismatched blood transfusion prior to cadaveric renal transplantationC Hiesse
Service de Nephrologie, Hopital Bicetre, Le Kremlin Bicetre, France
Kidney Int 60:341-9. 2001..Recently, it has been suggested that their clinical benefits are due to HLA-DR sharing between the blood donor and recipient...
- Gastrointestinal complications of post-diarrheal hemolytic uremic syndromeA S de Buys Roessingh
Department of Pediatric Surgery, University Hospital of Robert Debré, AP HP, Paris, France
Eur J Pediatr Surg 17:328-34. 2007..We tried to define factors predictive of the severity of gastrointestinal complications post D+ HUS...
- Initial presentation of childhood-onset systemic lupus erythematosus: a French multicenter studyB Bader-Meunier
Department of Pediatrics, Hopital de Bicetre, 78 rue du General Leclerc, 94276 Le Kremlin Bicetre, France
J Pediatr 146:648-53. 2005..To describe the clinical and laboratory manifestations of childhood-onset systemic lupus erythematosus (SLE) at presentation...
- Scintigraphic screening for renal damage in siblings of children with symptomatic primary vesico-ureteric refluxF Bonnin
Service de Medecine Nucleaire, Hopital Beaujon, Clichy, France
BJU Int 87:463-6. 2001..To define prospectively the incidence of renal parenchymal lesions in the siblings of patients treated at one institution for primary vesico-ureteric reflux (VUR)...
- [Disseminated lupus erythematosus in children: guidelines about investigations during the initial evaluation and follow-up]B Bader-Meunier
Service de Pediatrie Generale, Hopital de Bicetre, AP HP, 78, rue du General Leclerc, 94276 Le Kremlin Bicetre, France
Arch Pediatr 11:941-4. 2004....
- Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndromeV Fremeaux-Bacchi
Service d Immunologie Biologique, Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
J Med Genet 41:e84. 2004
- Population pharmacokinetics and pharmacogenetics of tacrolimus in de novo pediatric kidney transplant recipientsW Zhao
Department of Pediatric Pharmacology and Pharmacogenetics, Hopital Robert Debre, Paris, France
Clin Pharmacol Ther 86:609-18. 2009..Individualization of therapy will enable the optimization of tacrolimus exposure, with resultant beneficial effects on kidney function in the initial post-transplantation period...
- [Atypical hemolytic-uremic syndrome related to abnormalities within the complement system]V Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, 20 40, rue Leblanc, 75908 Paris Cedex 15, France
Rev Med Interne 32:232-40. 2011....
- Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseasesE Denamur
Laboratoire de Biochimie Génétique and Institut National de la Santé et de la Recherche Médicale U458, Hopital Robert Debre, Paris, France
J Am Soc Nephrol 10:2219-23. 1999..It is suggested that WT1 splice site mutations should be sought in phenotypically normal females who present with FSGS or with related glomerulopathies of early onset...
- Pharmacokinetics and tolerance of mycophenolate mofetil in renal transplant childrenE Jacqz-Aigrain
Unité de Pharmacologie Clinique Pédiatrique, Hopital Robert Debre, 48 Boulevard Serurier, F 75019 Paris, France
Pediatr Nephrol 14:95-9. 2000....
- Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)A Veyradier
INSERM U143, Le Kremlin Bicêtre and Service de Néphrologie, Hopital Robert Debre, Paris, France
J Thromb Haemost 2:424-9. 2004..This study emphasizes the role of ADAMTS13 mutations in the pathogenesis of congenital TTP and suggests that several structural domains of this metalloprotease are involved in both its biogenesis and its substrate recognition process...
- Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndromeC M Legendre
Université Paris Descartes and Assistance Publique Hôpitaux de Paris, Hopital Necker, INSERM Unité 845, Paris, France
N Engl J Med 368:2169-81. 2013..Plasma exchange or infusion may transiently maintain normal levels of hematologic measures but does not treat the underlying systemic disease...
- Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantationJ Zuber
Assistance Publique Hopitaux de Paris, Hôpital Necker Université Paris Descartes, Sorbonne Paris Cité Department of Renal Transplantation, Paris, France
Am J Transplant 12:3337-54. 2012..Altogether these data suggest that long-term eculizumab is highly effective for preventing and treating posttransplant aHUS recurrence. Our study also indicates that anti-C5 should be promptly started if a recurrence occurs...
- 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....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
- 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...
- 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....
- 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...
- Clinical quiz. Loin pain haematuria syndromeElie Haddad
Service de Nephrologie, Hopital Robert Debre, Paris, France
Pediatr Nephrol 17:217-9. 2002
- 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...
- 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...
- 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...
- 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....
- 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...
- 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)...
- Medication errors in hospitals: computerized unit dose drug dispensing system versus ward stock distribution systemJean Eudes Fontan
Pharmacie et Laboratoire de Toxico pharmacologie, Hôpital Robert Debré AP HP, 48 Bd Serurier 75019 Paris, France
Pharm World Sci 25:112-7. 2003....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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)...
- 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....
- [Renovascular hypertension in childhood]Albert Bensman
Service de Nephrologie Pediatrique, Hôpital d Enfants Armand Trousseau 26, avenue du Docteur Arnold Netter 75012 Paris
Bull Acad Natl Med 187:1067-77; discussion 1078-9. 2003....
- [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
- Fc alpha receptor I activation induces leukocyte recruitment and promotes aggravation of glomerulonephritis through the FcR gamma adaptorYutaka Kanamaru
INSERM U699, Paris, France
Eur J Immunol 37:1116-28. 2007..Thus, FcalphaRI activation mediates GN progression by initiating a cytokine/chemokine cascade that promotes leukocyte recruitment and kidney damage...
- 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...
- 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...
- 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...
- 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...
- 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