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1. Pediatric nephrology
by Avner, Ellis D
2009, 6th completely revised, updated, and enlarged ed., ISBN 9783540763277, 2 v. (xxiii, 2035 p.), [28] p. of plates
An established classic through five editions, Pediatric Nephrology is updated and expanded for this 6th edition. Each chapter has been completely rewritten to... 
Kidney Diseases | Infant | Urinary Tract Infections | Child | Adolescent | Pediatric nephrology | Children | Diseases
Book
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2. Full Text Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
by Rossetti, Sandro and Kubly, Vickie J and Consugar, Mark B and Hopp, Katharina and Roy, Sushmita and Horsley, Sharon W and Chauveau, Dominique and Rees, Lesley and Barratt, T. Martin and van't Hoff, William G and Niaudet, W. Patrick and Torres, Vicente E and Harris, Peter C
Kidney International, ISSN 0085-2538, 04/2009, Volume 75, Issue 8, pp. 848 - 855
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but... 
mutation | ADPKD | hypomorphic allele | childhood | PKD1 | Mutation | Childhood | Hypomorphic allele | RENAL-FUNCTION | MOLECULAR DIAGNOSTICS | EARLY-ONSET DISEASE | INACTIVATION | UROLOGY & NEPHROLOGY | AUTOSOMAL-DOMINANT | MICE | DUPLICATED REGION | INHERITANCE | PRENATAL-DIAGNOSIS | DNA Mutational Analysis | Pedigree | Humans | Alleles | Cysts - genetics | Family Health | Genotype | Penetrance | Gene Dosage | Kidney Failure, Chronic | Mutation, Missense | TRPP Cation Channels - genetics
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3. Full Text KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
by Louis-Dit-Picard, Hélène and Barc, Julien and Trujillano, Daniel and Miserey-Lenkei, Stéphanie and Bouatia-Naji, Nabila and Pylypenko, Olena and Beaurain, Geneviève and Bonnefond, Amélie and Sand, Olivier and Simian, Christophe and Vidal-Petiot, Emmanuelle and Soukaseum, Christelle and Mandet, Chantal and Broux, Françoise and Chabre, Olivier and Delahousse, Michel and Esnault, Vincent and Fiquet, Béatrice and Houillier, Pascal and Bagnis, Corinne Isnard and Koenig, Jens and Konrad, Martin and Landais, Paul and Mourani, Chebel and Niaudet, Patrick and Probst, Vincent and Thauvin, Christel and Unwin, Robert J and Soroka, Steven D and Ehret, Georg and Ossowski, Stephan and Caulfield, Mark and Bruneval, Patrick and Estivill, Xavier and Froguel, Philippe and Hadchouel, Juliette and Schott, Jean-Jacques and Jeunemaitre, Xavier and Int Consortium Blood Pressure ICBP and International Consortium for Blood Pressure (ICBP)
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 456 - 460
Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to... 
PROTEIN | STIMULATION | GENE | NA+-CL-COTRANSPORTER | LINKAGE ANALYSES | GENETICS & HEREDITY | CONVOLUTED TUBULE | KIDNEY | EXPRESSION | BLOOD-PRESSURE | MOLECULAR-MECHANISMS | Blood Pressure - genetics | Humans | Middle Aged | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Young Adult | Kidney - metabolism | Base Sequence | Aged, 80 and over | Adult | Female | Pseudohypoaldosteronism - metabolism | Child | Amino Acid Sequence | Sodium Chloride Symporters - metabolism | Signal Transduction | Sodium Chloride Symporters - genetics | Pseudohypoaldosteronism - genetics | Sequence Analysis, DNA | Carrier Proteins - genetics | Adolescent | Aged | Polymorphism, Single Nucleotide | Nephrons - metabolism | Ion Transport - genetics | Hypertension | Ubiquitin | Physiological aspects | Genetic aspects | Research | Gene mutations | Proteins | Genetics | Mutation | Genes
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4. Full Text Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
by Consugar, Mark B and Wong, Wai C and Lundquist, Patrick A and Rossetti, Sandro and Kubly, Vickie J and Walker, Denise L and Rangel, Laureano J and Aspinwall, Richard and Niaudet, W. Patrick and Özen, Seza and David, Albert and Velinov, Milen and Bergstralh, Eric J and Bae, Kyongtae T and Chapman, Arlene B and Guay-Woodford, Lisa M and Grantham, Jared J and Torres, Vicente E and Sampson, Julian R and Dawson, Brian D and Harris, Peter C and for the CRISP Consortium and CRISP Consortium
Kidney International, ISSN 0085-2538, 12/2008, Volume 74, Issue 11, pp. 1468 - 1479
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect.... 
mosaic | PKD1/TSC2-CGS | ADPKD | MLPA | PKD2 | deletions | Mosaic | Deletions | ENCODES | GENOTYPE-PHENOTYPE CORRELATIONS | TSC2 | IDENTIFICATION | PKD1 | DELETION | TUBEROUS SCLEROSIS COMPLEX | CHROMOSOME-16 | CYSTOGENESIS | UROLOGY & NEPHROLOGY | DUPLICATED REGION | DNA Mutational Analysis - standards | Humans | Family Health | Male | DNA Mutational Analysis - methods | TRPP Cation Channels - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Pedigree | Polycystic Kidney, Autosomal Dominant - diagnosis | Gene Deletion | Gene Rearrangement | Tumor Suppressor Proteins - genetics | Female | Mutation | TSC2-CGS
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5. Full Text Pediatric nephrology
by Avner, Ellis D and Harmon, William, 1943 and Niaudet, P
2004, 5th ed., ISBN 0781735459, 1588
Pediatric Nephrology is the premier comprehensive reference on congenital and acquired kidney diseases and their therapies in children. Section One opens with... 
Kidney Diseases | Pediatric nephrology | Urinary Tract Infections | Infant | Children | Child | Diseases
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6. Full Text Acute kidney injury complicating nephrotic syndrome of minimal change disease
by Meyrier, Alain and Niaudet, Patrick
Kidney International, ISSN 0085-2538, 11/2018, Volume 94, Issue 5, pp. 861 - 869
Minimal change disease accounts for 70% to 90% of cases of nephrotic syndrome in children. It also causes nephrotic syndrome in adults, including patients... 
kidney biopsy | children | diuretics | adults | nephrotoxic drugs | endothelin-1 | minimal-change nephrotic syndrome | AKI | SODIUM RETENTION | WATER-EXCRETION | ANGIOTENSIN-ALDOSTERONE SYSTEM | ACUTE-RENAL-FAILURE | CLINICAL-COURSE | BLOOD-VOLUME | PLASMA-VOLUME | UROLOGY & NEPHROLOGY | GLOMERULAR-FILTRATION RATE | ELDERLY-PATIENTS | LIPOID NEPHROSIS | Nephrotic Syndrome - complications | Glomerular Filtration Rate | Kidney - pathology | Acute Kidney Injury - pathology | Biopsy | Humans | Nephrosis, Lipoid - complications | Female | Male | Acute Kidney Injury - etiology | Index Medicus
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7. Full Text Long-term outcome of children with steroid-sensitive idiopathic nephrotic syndrome
by Niaudet, Patrick
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 2009, Volume 4, Issue 10, pp. 1547 - 1548
UROLOGY & NEPHROLOGY | CYCLOPHOSPHAMIDE | CHILDHOOD | GONADAL-FUNCTION | Adrenal Cortex Hormones - adverse effects | Osteoporosis - chemically induced | Humans | Hypertension - chemically induced | Nephrosis, Lipoid - drug therapy | Male | Treatment Outcome | Alkylating Agents - adverse effects | Spermatozoa - drug effects | Child | Index Medicus
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8. Full Text Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults
by Véronique Fremeaux-Bacchi and Fadi Fakhouri and Arnaud Garnier and Frank Bienaimé and Marie-Agnès Dragon-Durey and Stéphanie Ngo and Bruno Moulin and Aude Servais and François Provot and Lionel Rostaing and Stéphane Burtey and Patrick Niaudet and Georges Deschênes and Yvon Lebranchu and Julien Zuber and Chantal Loirat
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 04/2013, Volume 8, Issue 4, pp. 554 - 562
Background and objectives Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease that was first recognized in children but also... 
IMPACT | CFH | GENES | HUS | UROLOGY & NEPHROLOGY | FACTOR-H | MUTATIONS | AHUS | Prognosis | Outcome Assessment (Health Care) | Humans | Middle Aged | Child, Preschool | Infant | Male | Young Adult | Hemolytic-Uremic Syndrome - genetics | Aged, 80 and over | Adult | Complement System Proteins - genetics | Female | Hemolytic-Uremic Syndrome - therapy | Genetic Predisposition to Disease - epidemiology | Hemolytic-Uremic Syndrome - mortality | Child | Infant, Newborn | France - epidemiology | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Genetic Testing - statistics & numerical data | Kaplan-Meier Estimate | Adolescent | Age of Onset | Aged | Atypical Hemolytic Uremic Syndrome | Original
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9. Full Text Eculizumab in Severe Shiga-Toxin–Associated HUS
by Fremeaux-Bacchi, Véronique and Boppel, Tobias and Oualha, Mehdi and Malina, Michal and Proulx, François and Schaefer, Franz and Lapeyraque, Anne-Laure and Kirschfink, Michael and Niaudet, Patrick and Clermont, Marie-José and Le Deist, Françoise
The New England Journal of Medicine, ISSN 0028-4793, 06/2011, Volume 364, Issue 26, pp. 2561 - 2563
This letter reports treatment of three children with severe, dialysis-requiring Shiga-toxin–induced hemolytic–uremic syndrome (HUS) with eculizumab, a... 
MEDICINE, GENERAL & INTERNAL | HEMOLYTIC-UREMIC SYNDROME | Antibodies, Monoclonal, Humanized | Hemolytic-Uremic Syndrome - microbiology | Humans | Shiga-Toxigenic Escherichia coli | Child, Preschool | Antibodies, Monoclonal - therapeutic use | Hemolytic-Uremic Syndrome - therapy | Escherichia coli Infections - complications | Hemolytic-Uremic Syndrome - drug therapy | Renal Dialysis | Shiga Toxin - adverse effects | Nervous system | Children | Mutation | Patients
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10. Full Text Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies
by Servais, Aude and Noël, Laure-Hélène and Roumenina, Lubka T and Le Quintrec, Moglie and Ngo, Stephanie and Dragon-Durey, Marie-Agnès and Macher, Marie-Alice and Zuber, Julien and Karras, Alexandre and Provot, François and Moulin, Bruno and Grünfeld, Jean-Pierre and Niaudet, Patrick and Lesavre, Philippe and Frémeaux-Bacchi, Véronique
Kidney International, ISSN 0085-2538, 08/2012, Volume 82, Issue 4, pp. 454 - 464
Dense deposit disease and glomerulonephritis with isolated C3 deposits are glomerulopathies characterized by deposits of C3 within or along the glomerular... 
complement | glomerulonephritis | clinical immunology | membranoproliferative glomerulonephritis (MPGN) | LONG-TERM | HEMOLYTIC-UREMIC SYNDROME | MESANGIOCAPILLARY GLOMERULONEPHRITIS | GLOMERULONEPHRITIS TYPE-II | MACULAR DEGENERATION | FACTOR-H DEFICIENCY | GLOMERULAR-FILTRATION-RATE | UROLOGY & NEPHROLOGY | MUTATIONS | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | MEMBRANE COFACTOR PROTEIN | Humans | Child, Preschool | Male | Complement System Proteins - metabolism | Young Adult | Time Factors | DNA Mutational Analysis | Renal Insufficiency - immunology | Child | Glomerulonephritis, Membranoproliferative - pathology | Genetic Predisposition to Disease | Risk Assessment | Complement C3 - metabolism | Gene Frequency | Risk Factors | Glomerulonephritis - genetics | Glomerulonephritis - immunology | Glomerulonephritis - mortality | Biomarkers - blood | Kidney Glomerulus - pathology | Disease Progression | Glomerulonephritis, Membranoproliferative - genetics | Glomerulonephritis, Membranoproliferative - immunology | Phenotype | Complement Factor H - metabolism | Glomerulonephritis, Membranoproliferative - mortality | Glomerulonephritis - pathology | Adolescent | Age of Onset | Membrane Cofactor Protein - genetics | Kidney Glomerulus - immunology | Mutation | Complement Factor I - metabolism | Haplotypes | Complement C3 Nephritic Factor - genetics | Glomerulonephritis - therapy | Infant | Case-Control Studies | Adult | Complement System Proteins - genetics | Female | Membrane Cofactor Protein - metabolism | Complement Pathway, Alternative - genetics | France | Renal Insufficiency - genetics | Kaplan-Meier Estimate | Complement Factor I - genetics | Treatment Outcome | Chi-Square Distribution | Glomerulonephritis, Membranoproliferative - therapy | Biopsy | Complement C3 Nephritic Factor - metabolism | Complement Factor H - genetics
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11. Full Text Rituximab in childhood steroid-dependent nephrotic syndrome
by Boyer, Olivia and Niaudet, Patrick
Nature Reviews Nephrology, ISSN 1759-5061, 10/2013, Volume 9, Issue 10, pp. 562 - 563
Ravani et al. report that rituximab is a safe and effective steroid-sparing and calcineurin-inhibitor-sparing agent in 46 children with idiopathic nephrotic... 
Nephrotic syndrome | Research | Children | Drug therapy | Patient outcomes | Diseases
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12. Full Text Early-Childhood Membranous Nephropathy Due to Cationic Bovine Serum Albumin
by Debiec, Hanna and Lefeu, Florence and Kemper, Markus J and Niaudet, Patrick and Deschênes, Georges and Remuzzi, Giuseppe and Ulinski, Tim and Ronco, Pierre
The New England Journal of Medicine, ISSN 0028-4793, 06/2011, Volume 364, Issue 22, pp. 2101 - 2110
BSA ingested in food can escape the intestinal barrier and induce antibovine serum albumin antibodies. The authors of this study identified circulating BSA in... 
TARGET | CELLS | MEDICINE, GENERAL & INTERNAL | IMMUNE-RESPONSES | DIETARY ANTIGENS | COMPLEXES | INFANTS | DISEASE | PREVALENCE | PROTEINS | IGG4 ANTIBODIES | Epitope Mapping | Serum Albumin, Bovine - adverse effects | Serum Albumin, Bovine - analysis | Enzyme-Linked Immunosorbent Assay | Immunoglobulin G - blood | Serum Albumin, Bovine - immunology | Humans | Child, Preschool | Animals | Glomerulonephritis, Membranous - immunology | Adolescent | Adult | Cations | Milk - immunology | Child | Cohort Studies | Care and treatment | Usage | Causes of | Serum albumin | Nephrotic syndrome | Health aspects | Enzyme-linked immunosorbent assay | Antigens | Bovine serum albumin | Immunoglobulins | Sodium lauryl sulfate | Phospholipase A2 | Statistical analysis | Gel electrophoresis | Pathogenesis | Immunoglobulin G | Chromatography | Western blotting | Proteins | Phospholipase | Nephropathy | Membranous nephropathy | Biopsy | Children | Age | Antigen-antibody complexes
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13. Full Text WT1 and glomerular diseases
by Niaudet, Patrick and Gubler, Marie-Claire
Pediatric Nephrology, ISSN 0931-041X, 11/2006, Volume 21, Issue 11, pp. 1653 - 1660
The WT1 gene encodes a zinc finger transcription factor involved in kidney and gonadal development and, when mutated, in the occurrence of kidney tumor and... 
Denys-Drash syndrome | Frasier syndrome | WT1 gene | Wilms’ tumor | Diffuse mesangial sclerosis | Glomerular disease | FSGS | Wilms' tumor | diffuse mesangial sclerosis | SUPPRESSOR GENE | WILMS-TUMOR GENE | glomerular disease | UROGENITAL DEVELOPMENT | SPLICE-SITE MUTATION | UROLOGY & NEPHROLOGY | PEDIATRICS | FRASIER-SYNDROME | NEPHROTIC SYNDROME | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | TRANSCRIPTION FACTOR | DENYS-DRASH-SYNDROME | Wilms Tumor - genetics | Kidney Diseases - pathology | Humans | Frasier Syndrome - pathology | Male | Nephrotic Syndrome - genetics | Denys-Drash Syndrome - genetics | Genetic Counseling | Kidney Diseases - genetics | Wilms Tumor - pathology | Chromosomes, Human, X | Frasier Syndrome - genetics | Sclerosis - genetics | Chromosomes, Human, Y | Glomerular Mesangium - pathology | Genes, Wilms Tumor | Sclerosis - pathology | Female | Mutation | Child | Denys-Drash Syndrome - pathology
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14. Pediatric Nephrology
by Avner, Ellis D and Harmon, William E and Niaudet, Patrick and Yoshikawa, Norishige and Emma, Francesco and Goldstein, Stuart L and SpringerLink (Online service)
2016, 7th ed. 2016., ISBN 9783662435953
This new edition of Pediatric Nephrology, now in three volumes, has been extensively updated and also contains much new material. Its organization flows... 
Medicine | General practice (Medicine) | Pediatrics | Nephrology | Internal medicine | Urology
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15. Full Text Genetic forms of nephrotic syndrome
by Niaudet, Patrick
Pediatric Nephrology, ISSN 0931-041X, 12/2004, Volume 19, Issue 12, pp. 1313 - 1318
Mutations of NPHS1, NPHS2 , or WT1 may be responsible for severe forms of nephrotic syndrome in children, progressing to end-stage renal failure. Recent... 
Nephrin | NPHS1 | Focal segmental glomerulosclerosis | NPHS2 | WT1 | Congenital nephrotic syndrome | Podocin | TUMOR SUPPRESSOR GENE | GENOTYPE/PHENOTYPE CORRELATIONS | podocin | GLOMERULAR PROTEIN | NPHS2 MUTATIONS | nephrin | congenital nephrotic syndrome | focal segmental glomerulosclerosis | DIFFUSE MESANGIAL SCLEROSIS | UROLOGY & NEPHROLOGY | FINNISH TYPE | PEDIATRICS | PODOCIN MUTATIONS | FRASIER-SYNDROME | DENYS-DRASH-SYNDROME | Recurrence | Proteinuria - surgery | Membrane Proteins - genetics | Humans | Intracellular Signaling Peptides and Proteins | Kidney Transplantation | Nephrotic Syndrome - genetics | Nephrotic Syndrome - surgery | Proteins - genetics | Nephrotic Syndrome - complications | Mutation | Nephrotic Syndrome - classification | Child | WT1 Proteins - genetics | Proteinuria - etiology
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16. Full Text Renal involvement in mitochondrial cytopathies
by Niaudet, Patrick
Nephrologie et Therapeutique, ISSN 1769-7255, 2013, Volume 9, Issue 2, pp. 116 - 124
Mitochondrial disorders are genetic defects of oxidative phosphorylation. Oxidative phosphorylation takes place in the mitochondrial inner membrane and... 
Mitochondrial cytopathy | Nephritic syndrome | Mitochondrial respiratory chain disorders | Proximal tubulopathy | Biopolymers
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17. Full Text Living donor kidney transplantation in patients with hereditary nephropathies
by Niaudet, Patrick
Nature Reviews Nephrology, ISSN 1759-5061, 12/2010, Volume 6, Issue 12, pp. 736 - 743
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and Alport syndrome-can progress to... 
RECESSIVE ALPORT-SYNDROME | COFACTOR PROTEIN CD46 | HEMOLYTIC-UREMIC SYNDROME | GENOTYPE-PHENOTYPE CORRELATIONS | RESISTANT NEPHROTIC SYNDROME | DISEASE TYPES 1 | UROLOGY & NEPHROLOGY | PRIMARY HYPEROXALURIA TYPE-1 | COL4A5 COLLAGEN GENE | FOCAL SEGMENTAL GLOMERULOSCLEROSIS | BASEMENT-MEMBRANE NEPHRITIS | Fabry Disease - genetics | Humans | Cystinosis - genetics | Cystinosis - surgery | Living Donors | Nephrotic Syndrome - genetics | Nephrotic Syndrome - surgery | Arteriosclerosis - genetics | Kidney Diseases - genetics | Abnormalities, Multiple - surgery | Patient Selection | Hemolytic-Uremic Syndrome - genetics | Hyperoxaluria - surgery | Osteochondrodysplasias - genetics | Polycystic Kidney, Autosomal Dominant - genetics | Hemolytic-Uremic Syndrome - surgery | Kidney Diseases, Cystic - genetics | Abnormalities, Multiple - genetics | Pulmonary Embolism - genetics | Osteochondrodysplasias - surgery | Risk Factors | Kidney Diseases, Cystic - surgery | Nephritis, Hereditary - genetics | Pupil Disorders - surgery | Kidney Transplantation | Eye Abnormalities - genetics | Eye Abnormalities - surgery | Pupil Disorders - genetics | Immunologic Deficiency Syndromes - surgery | Arteriosclerosis - surgery | Nephritis, Hereditary - surgery | Immunologic Deficiency Syndromes - genetics | Kidney Diseases - surgery | Fabry Disease - surgery | Pulmonary Embolism - surgery | Hyperoxaluria - genetics | Kidney Diseases, Cystic - congenital | Polycystic Kidney, Autosomal Dominant - surgery | Care and treatment | Relapse | Kidneys | Chronic kidney failure | Organ transplant recipients | Development and progression | Genetic aspects | Transplantation | Research | Health aspects | Risk factors | Diseases
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