Rare and complex kidney diseases comprise a wide range of congenital, hereditary and acquired disorders. It is estimated that at least 2 million Europeans are affected by rare kidney diseases, with glomerulopathies and congenital kidney malformations each accounting for approximately 1 million cases. In addition, inherited tubulopathies, tubulointerstitial diseases and thrombotic microangiopathies represent a number of rare and ultrarare diseases of high clinical relevance.

State-of-the-art diagnostic tools can provide valuable information about disease prognosis and therapeutic options. However, access to testing is not universal. Due to delayed diagnosis and delayed treatment, many rare kidney diseases progress to renal failure.

This ERN will seek to improve standards of diagnosis and treatment across Europe. The network will establish a consensus on rational diagnostic algorithms for patients presenting with signs and symptoms of renal disease, including standard criteria for genetic testing in cases of suspected hereditary kidney disease. Working groups will then define clinical pathways for therapeutic management after thorough analysis of available treatments.

Online consultation services will improve management of new and complex cases. Access to a virtual consultation board will be complemented by administrative measures to facilitate patient travel to specialised centres where necessary, in line with the EU Cross-border Healthcare Directive and Social Security Regulation. A series of webinars will be developed for teaching and training health professionals.


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TitleAuthorsDateKeywordsIssue name
Predictors of augmented renal clearance based on iohexol plasma clearance in critically ill children.Dhont E, Van Der Heggen T, Snauwaert E, Willems J, Croubels S, Delanghe J, De Waele JJ, Colman R, Vande Walle J, De Paepe P, De Cock PA2024-05-01Augmented renal clearance, Children, Glomerular filtration rate, Intensive care, Kidney functionPediatric nephrology (Berlin, Germany)
31P-MRS, molecular level imaging for assessing muscular mitochondrial dysfunction in chronic kidney disease.De Mul A, Lemoine S2024-05-01Clinical kidney journal
Claudin-10 Expression and the Gene Expression Pattern of Thick Ascending Limb Cells.Brideau G, Cheval L, Griveau C, Ling WE, Lievre L, Crambert G, Müller D, Broćić J, Cherchame E, Houillier P, Prot-Bertoye C2024-04-03HELIX syndrome, claudin-10, epithelium, kidney, thick ascending limb of the loop of Henle, tight junction, transcriptional profilingInternational journal of molecular sciences
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs.Wagner E, Bertholet-Thomas A, Romier M, Loin L, Lemoine S, Vignot E, Flammier S, Garnier C, De-Mul A, Feutrier C, Juillard S, Thivichon-Prince B, Lienhart G, Bacchetta J2024-04-01Focus group, Multidisciplinary medical care, Therapeutic education program, XLHEuropean journal of medical genetics
Have We Neglected to Study Target-Site Drug Exposure in Children? A Systematic Review of the Literature.Hermans E, Meersschaut J, Van Herteryck I, Devreese M, Walle JV, De Paepe P, De Cock PA2024-03-29Clinical pharmacokinetics
Investigating the use of finerenone in children with chronic kidney disease and proteinuria: design of the FIONA and open-label extension studies.Schaefer F, Montini G, Kang HG, Walle JV, Zaritsky J, Schreuder MF, Litwin M, Scalise A, Scott H, Potts J, Iveli P, Breitenstein S, Warady BA2024-03-21Chronic kidney disease, Finerenone, Mineralocorticoid, Pediatric, Proteinuria, Renoprotective therapyTrials
Discontinuing absorbent pants in children with bedwetting: a randomized controlled trial.Breinbjerg A, Kamperis K, Thorsteinsson K, Jørgensen CS, Dossche L, Rayner J, Zhang J, Rodrigues DG, Borch L, Hagstrøm S, Tekgül S, Walle JV, Rittig S2024-03-12Diaper, Nappies, Nappy, Nocturnal enuresis, Toilet trainingEuropean journal of pediatrics
Time-Varying Determinants of Graft Failure in Pediatric Kidney Transplantation in Europe.Coens F, Knops N, Tieken I, Vogelaar S, Bender A, Kim JJ, Krupka K, Pape L, Raes A, Tönshoff B, Prytula A2024-03-01Clinical journal of the American Society of Nephrology : CJASN
Is shrunken pore syndrome also a reality in children?Roussel M, Bacchetta J, Sellier-Leclerc AL, Lemoine S, De Mul A, Derain Dubourg L2024-02-01cardiovascular risk, children, creatinine, cystatin C, glomerular filtration rate, shrunken pore syndromeJournal of internal medicine
The development of the Belgian paediatric clinical trial network.Degraeuwe E, Persijn L, Nuytinck L, Allegaert K, De Taeye L, Gasthuys E, Christiaens D, Karamaria S, Raes A, Turner M, Vande Walle J2024-02-01BPCRN, Drug development, paediatrics; research networksActa clinica Belgica
Population pharmacokinetics of lisinopril in hypertensive children and adolescents with normal to mildly reduced kidney function.Sandra L, Degraeuwe E, De Bruyne P, De Baere S, Croubels S, Van Bocxlaer JFP, Raes A, Vande Walle J, Gasthuys E, Vermeulen A2024-02-01hypertension, lisinopril, paediatrics, population pharmacokineticsBritish journal of clinical pharmacology
Exploring lifelong overactive bladder: Transitions, evidence, and clinical implications; A modified Delphi process.Bou Kheir G, Verbakel I, Vande Walle J, Wyndaele M, Sinha S, Arlandis S, Raes A, Abrams P, Wein A, Hervé F, Everaert K2024-01-30lifelong, modified Delphi process, overactive bladder, transition phases, transitional careNeurourology and urodynamics
Introductory editorial: Lifelong LUTS, a matter of transition?Everaert K, Bou Kheir G, Vande Walle J, Verbakel I, Hervé F2024-01-30LUTS, aging, bladder, brain, kidney, nocturia, nocturnal enuresisNeurourology and urodynamics
Concluding editorial: Lifelong LUTS, a matter of transition?Everaert K, Bou Kheir G, Vande Walle J, Verbakel I, Arlandis S, Hervé F2024-01-30LUTS, aging, bladder, brain, kidney, nocturia, nocturnal enuresisNeurourology and urodynamics
Reassuring Data on the Cardiovascular Risk in Adults With X-linked Hypophosphatemia Receiving Conventional Therapy.Bouzemane A, Vignot E, Derain Dubourg L, De Mul A, Molin A, Chapurlat R, Fontanges E, Delsart D, Akbari A, Huang SHS, McIntyre CW, Bacchetta J, Lemoine S2024-01-18MRI, X-linked hypophosphatemia (XLH), cardiovascular outcomes, sodiumThe Journal of clinical endocrinology and metabolism
Microdialysis as a safe and feasible method to study target-site piperacillin-tazobactam disposition in septic piglets and children.Hermans E, Devreese M, Zeitlinger M, Dhont E, Verougstraete N, Colman R, Vande Walle J, De Paepe P, De Cock PA2023-11-01Juvenile animal model, Microdialysis, Pediatric sepsis, Piperacillin-tazobactam, Tissue pharmacokineticsInternational journal of antimicrobial agents
European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children.Guerlich K, Patro-Golab B, Barnacle A, Baumann U, Eicken A, Fraser AG, Gruszfeld D, Haas NA, Jonker AH, Kammermeier M, Kenny D, Kolaček S, Lapatto R, Maconochie I, Mader S, McGauran G, Melvin T, Muensterer O, Piscoi P, Romano A, Saxena AK, Schneider DT, Turner MA, Walle JV, Koletzko B2023-11-01children, clinical evaluation, clinical investigation, expert workshop, high-risk medical devices, recommendationsActa paediatrica (Oslo, Norway : 1992)
Favorable course of leptospirosis and hantavirus-induced acute tubulointerstitial nephritis under corticosteroid treatment.Matthys A, Dehoorne J, Dendooven A, Schelstraete P, Prytuła A2023-11-01Acute tubulointerstitial nephritis, Glucocorticosteroids, Hantavirus, LeptospirosisPediatric nephrology (Berlin, Germany)
The role of renal circadian biorhythms in lifelong LUTS.Hervé F, Vande Walle J, Raes A, Haddad R, Monaghan T, Drake MJ, Kamperis K, Dossche L, Zipkin J, Weiss J, Verbakel I, Bou Kheir G, Everaert K2023-10-17childhood, diuresis, enuresis, frailty, lifelong, lower urinary tract symptoms, nocturiaNeurourology and urodynamics
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.Boros E, Ertl DA, Berkenou J, Audrain C, Lecoq AL, Kamenicky P, Briot K, Amouroux C, Zhukouskaya V, Gueorguieva I, Mignot B, Girerd B, Porquet Bordes V, Salles JP, Edouard T, Coutant R, Bacchetta J, Linglart A, Rothenbuhler A2023-10-17PHEX, XLH, final height, quality of life, short statureEuropean journal of endocrinology
Anthropometric measures and patient outcome in pediatric chronic kidney disease.Prytuła A, Grenda R2023-10-01Pediatric nephrology (Berlin, Germany)
Prevalence and clinical significance of ANCA positivity in lupus nephritis: a case series of 116 patients and literature review.Lacetera R, Calatroni M, Roggero L, Radice A, Pozzi MR, Reggiani F, Sciascia S, Trezzi B, Roccatello D, Minetti E, Moroni G, Sinico RA2023-05-01Anti-neutrophil cytoplasmic antibody, Kidney biopsy, Long-term kidney survival, Lupus nephritisJournal of nephrology
Pediatric urolithiasis: what can pediatricians expect from radiologists?Bernardor J, Bidault V, Bacchetta J, Cabet S2023-04-01Child, Congenital, Kidney, Stone, Ultrasound, Urinary tract, UrolithiasisPediatric radiology
Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 12-month analysis of the phase 3 ILLUMINATE-B trial.Hayes W, Sas DJ, Magen D, Shasha-Lavsky H, Michael M, Sellier-Leclerc AL, Hogan J, Ngo T, Sweetser MT, Gansner JM, McGregor TL, Frishberg Y2023-04-01Hyperoxaluria, Primary, Infant, Nephrocalcinosis, RNA interference, LumasiranPediatric nephrology (Berlin, Germany)
Potential of Urine Biomarkers CHI3L1, NGAL, TIMP-2, IGFBP7, and Combinations as Complementary Diagnostic Tools for Acute Kidney Injury after Pediatric Cardiac Surgery: A Prospective Cohort Study.Vandenberghe W, De Loor J, Francois K, Vandekerckhove K, Herck I, Vande Walle J, Peperstraete H, Bové T, De Wolf D, Nuytinck L, De Waele JJ, Meyer E, Hoste EAJ2023-03-09AKI, cardiac surgery, pediatric, urine biomarkerDiagnostics (Basel, Switzerland)
Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations.Injeyan M, Bidault V, Bacchetta J, Bertholet-Thomas A2023-02-01hydration, nephrolithiasis, pediatricsNutrients
Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial.Michael M, Groothoff JW, Shasha-Lavsky H, Lieske JC, Frishberg Y, Simkova E, Sellier-Leclerc AL, Devresse A, Guebre-Egziabher F, Bakkaloglu SA, Mourani C, Saqan R, Singer R, Willey R, Habtemariam B, Gansner JM, Bhan I, McGregor T, Magen D2023-02-01Lumasiran, RNA interference (RNAi), adverse events, anti-drug antibodies, cardiac dysfunction, efficacy, glycolate, hemodialysis, kidney disease, nephrocalcinosis, pediatric, pharmacodynamics, pharmacokinetics, phase 3 clinical trial, plasma oxalate (POx), primary hyperoxaluria type 1 (PH1), safety, systemic oxalosis, urinary oxalate (UOx)American journal of kidney diseases : the official journal of the National Kidney Foundation
Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E2023-01-01Anderson-Fabry disease, ECG pattern, bundle branch block, cardiac involvement, electrocardiogram (ECG), left ventricular hyperertrophy, repolarization abnormalitiesFrontiers in cardiovascular medicine
Tubular phosphate handling: references from child to adulthood in the era of standardized serum creatinine.Derain Dubourg L, Aurelle M, Chardon L, Flammier S, Lemoine S, Bacchetta J2022-10-19adults, children, iohexol clearance, phosphate, tubular maximum phosphate reabsorption per glomerular filtration rateNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Calcium homeostasis and hyperparathyroidism: Nephrologic and endocrinologic points of view.Lemoine S, Figueres L, Bacchetta J, Frey S, Dubourg L2022-08-01Calcemia, Calcium sensing receptor, Familial hypocalciuric hypercalcemia, Hyperparathyroidism, Parathyroid hormoneAnnales d'endocrinologie
Benign and malignant proliferation in idiopathic nephrotic syndrome: a French cohort study.Cébron C, Godron-Dubrasquet A, Aladjidi N, Roussey G, Boyer O, Avramescu M, Baudouin V, Terzic J, Allain-Launay E, Rieux-Laucat F, Decramer S, Simon T, Harambat J2022-08-01Children, Lymphoproliferation, Nephrotic syndrome, Smooth muscle tumorsPediatric nephrology (Berlin, Germany)
Potassium and fiber: a controversial couple in the nutritional management of children with chronic kidney disease.El Amouri A, Delva K, Foulon A, Vande Moortel C, Van Hoeck K, Glorieux G, Van Biesen W, Vande Walle J, Raes A, Snauwaert E, Eloot S2022-07-01Chronic kidney disease, Diet, Fiber intake, Pediatric, Potassium intake, Serum potassiumPediatric nephrology (Berlin, Germany)
Potential Renal Damage Biomarkers in Alport Syndrome-A Review of the Literature.Gomes AM, Lopes D, Almeida C, Santos S, Malheiro J, Lousa I, Caldas Afonso A, Beirão I2022-06-30Alport syndrome, COL4A, biomarkers, hereditary kidney diseaseInternational journal of molecular sciences
Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper.Bacchetta J, Edouard T, Laverny G, Bernardor J, Bertholet-Thomas A, Castanet M, Garnier C, Gennero I, Harambat J, Lapillonne A, Molin A, Naud C, Salles JP, Laborie S, Tounian P, Linglart A2022-05-01Calcium, General population, Pediatrics, Premature babies, Prevention, Rickets, Vitamin DArchives de pediatrie : organe officiel de la Societe francaise de pediatrie
Mental Health Outcomes Among Parents of Children With a Chronic Disease During the COVID-19 Pandemic: The Role of Parental Burn-Out.Wauters A, Vervoort T, Dhondt K, Soenens B, Vansteenkiste M, Morbée S, Waterschoot J, Haerynck F, Vandekerckhove K, Verhelst H, Van Aken S, Raes A, Schelstraete P, Walle JV, Van Hoecke E2022-04-08COVID-19, children with a chronic disease, parental burn-out, parental well-being, parents, positive parenting experiencesJournal of pediatric psychology
Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1.Hulton SA, Groothoff JW, Frishberg Y, Koren MJ, Overcash JS, Sellier-Leclerc AL, Shasha-Lavsky H, Saland JM, Hayes W, Magen D, Moochhala SH, Coenen M, Simkova E, Garrelfs SF, Sas DJ, Meliambro KA, Ngo T, Sweetser MT, Habtemariam BA, Gansner JM, McGregor TL, Lieske JC2022-03-01RNA interference, lumasiran, nephrocalcinosis, phase 3 clinical trial, primary hyperoxaluria type 1, urinary oxalateKidney international reports
Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children.Sas DJ, Magen D, Hayes W, Shasha-Lavsky H, Michael M, Schulte I, Sellier-Leclerc AL, Lu J, Seddighzadeh A, Habtemariam B, McGregor TL, Fujita KP, Frishberg Y2022-03-01Infants, Lumasiran, PH1, RNAi, Young childrenGenetics in medicine : official journal of the American College of Medical Genetics
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.Bernardor J, Flammier S, Salles JP, Amouroux C, Castanet M, Lienhardt A, Martinerie L, Damgov I, Linglart A, Bacchetta J2022-01-01Calcium-sensing Receptor (CaSR), children, cinacalcet, hypercalcemia, primary hyperparathyroidismFrontiers in pediatrics
Impact of New vs. Old International Children's Continence Society Standardization on the Classification of Treatment Naïve Enuresis Children at Screening: The Value of Voiding Diaries and Questionnaires.Karamaria S, Ranguelov N, Hansen P, De Boe V, Verleyen P, Segers N, Walle JV, Dossche L, Bael A2022-01-01MNE, NMNE, children, clinical management tool, diary, nocturnal enuresis, questionnaire, screeningFrontiers in pediatrics
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciamà V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D, Pelle A, Cocchi E, Benvenuta C, Baldovino S, Rollino C, Fenoglio R, Sciascia S, Tamagnone M, Vitale C, Calabrese G, Biancone L, Bussolino S, Savoldi S, Borzumati M, Cantaluppi V, Chiappero F, Ungari S, Peruzzi L, Roccatello D, Amoroso A, Deaglio S2021-10-01Chronic kidney failure, Next-generation sequencing, Renal monogenic disease, TransplantationJournal of nephrology
European Reference Networks: challenges and opportunities.Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N2021-04-01Journal of community genetics
Cryoglobulinemic glomerulonephritis: clinical presentation and histological features, diagnostic pitfalls and controversies in the management. State of the art and the experience on a large monocentric cohort treated with B cell depletion therapy.Rossi D, Sciascia S, Fenoglio R, Ferro M, Baldovino S, Kamgaing J, Ventrella F, Kalikatzaros I, Viziello L, Solfietti L, Barreca A, Roccatello D2021-04-01Minerva medica
Rare diseases of phosphate and calcium metabolism: Crossing glances between nephrology and endocrinology.Mosca M, Bernardor J, Lemoine S, Bertholet-Thomas A, Bacchetta J2021-02-01Calcium, Hyperparathyroidism, Hyperparathyroïdie, Hypoparathyroidism, Hypoparathyroïdie, Hypophosphatémie liée à l’X, Kidney, Lithiase, Nephrolithiasis, Phosphate, Phosphore, Rein, X-linked hypophosphatemiaAnnales d'endocrinologie
Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience.Bernardor J, Flammier S, Cabet S, Lemoine S, Chapurlat R, Molin A, Bertholet-Thomas A, Bacchetta J2021-01-01children, hypoparathyroidism, nephrocalcinosis, phosphate, teriparatideFrontiers in pediatrics
Pediatric Challenges in Robot-Assisted Kidney Transplantation.Grammens J, Schechter MY, Desender L, Claeys T, Sinatti C, VandeWalle J, Vermassen F, Raes A, Vanpeteghem C, Prytula A, Silay MS, Breda A, Decaestecker K, Spinoit AF2021-01-01kidney transplantation, minimal-invasive surgery, pediatric kidney transplantation, pediatric robot-assisted kidney transplantation, robot-assisted kidney transplantation, robotic surgery, roboticsFrontiers in surgery
Anti-Xa monitoring improves low-molecular-weight heparin effectiveness in patients with SARS-CoV-2 infection.Trunfio M, Salvador E, Cabodi D, Marinaro L, Alcantarini C, Gaviraghi A, Trentalange A, Lipani F, Sciascia S, Roccatello D, Bonora S, Di Perri G, Calcagno A2020-12-01Activated factor X, COVID-19, Clinical outcome, Heparin, low molecular weight heparin, and related compounds, SARS-CoV-2Thrombosis research
Screening for Cancer in Patients with Glomerular Diseases.Plaisier E, Ronco P2020-06-08Cancer, cost-benefit analysis, cytosolic phospholipases A2, early detection of cancer, follow-up studies, human PLA2R1 protein, humans, immunosuppressive agents, kidney, membranoproliferative glomerulonephritis, membranous nephropathy, neoplasms, nephrologists, nephrology, nephrotic syndrome, phospholipase A2 receptors, phospholipases A2, recurrence, risk factors, thrombospondins, treatment failureClinical journal of the American Society of Nephrology : CJASN
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.Buffin-Meyer B, Klein J, van der Zanden LFM, Levtchenko E, Moulos P, Lounis N, Conte-Auriol F, Hindryckx A, Wühl E, Persico N, Oepkes D, Schreuder MF, Tkaczyk M, Ariceta G, Fossum M, Parvex P, Feitz W, Olsen H, Montini G, Decramer S, Schanstra JP2020-06-01development, kidney disease, obstructive uropathy, prediction, prenatal biomarkersClinical kidney journal
Tailoring Tofacitinib Oral Therapy in Rheumatoid Arthritis: The TuTORApp-A Usability Study.Sciascia S, Radin M, Cecchi I, Di Nunzio P, Buccarano N, Di Gregorio F, Valeria M, Osella S, Crosasso P, Favuzzi MD, Rubini E, Foddai SG, Baldovino S, Roccatello D, Rossi D2020-05-15UX/UI design, gamification, mobile application, rheumatoid arthritisInternational journal of environmental research and public health
Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience.Brassier A, Krug P, Lacaille F, Pontoizeau C, Krid S, Sissaoui S, Servais A, Arnoux JB, Legendre C, Charbit M, Scemla A, Francoz C, Benoist JF, Schiff M, Mochel F, Touati G, Broué P, Cano A, Tardieu M, Querciagrossa S, Grévent D, Boyer O, Dupic L, Oualha M, Girard M, Aigrain Y, Debray D, Capito C, Ottolenghi C, Salomon R, Chardot C, de Lonlay P2020-03-01combined liver-kidney transplantation, kidney transplantation, liver transplantation, metabolic outcome, methylmalonic aciduria, renal failureJournal of inherited metabolic disease
Anticoagulation in patients with concomitant lupus nephritis and thrombotic microangiopathy: a multicentre cohort study.Sciascia S, Yazdany J, Dall'Era M, Fenoglio R, Radin M, Aggarwal I, Cuadrado MJ, Schreiber K, Barreca A, Papotti M, Roccatello D2019-07-01SLE, TMA, anticardiolipin antibodies, antiphospholipid antibodies, antiphospholipid syndrome, lupus nephritis, systemic lupus erythematosus, thrombotic microangiopathyAnnals of the rheumatic diseases
Cryoglobulinaemia.Roccatello D, Saadoun D, Ramos-Casals M, Tzioufas AG, Fervenza FC, Cacoub P, Zignego AL, Ferri C2018-08-02Nature reviews. Disease primers
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Last update: May 11th, 2024 on 01:30