Laurence Heidet
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View article: Genetic screening in kidney transplant candidates
Genetic screening in kidney transplant candidates Open
Introduction The origin of chronic kidney disease (CKD) remains unknown in around 16% of patients at the time of renal replacement therapy. The aim of this study was to assess the proportion of monogenic kidney diseases in kidney transplan…
View article: #2588 Renal trajectories in the french RaDiCo Alport syndrome cohort
#2588 Renal trajectories in the french RaDiCo Alport syndrome cohort Open
Background and Aims Alport syndrome (AS) is increasingly diagnosed thanks to the availability of molecular genetics analysis. Age at kidney failure varies widely according to sex and genotypes as has been reported in several series. Howeve…
View article: #3530 Prenatal ultrasound features and long-term prognosis of very-early-onset autosomal dominant polycystic kidney disease
#3530 Prenatal ultrasound features and long-term prognosis of very-early-onset autosomal dominant polycystic kidney disease Open
Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) has a highly variable phenotye, with its most severe manifestations being an early (EO) or very early (VEO) onset of the disease. EO and VEO definition implies the oc…
View article: #3150 Metabolic control affects growth in dRTA: findings from the ESPN–ERKNet dRTA sub-registry
#3150 Metabolic control affects growth in dRTA: findings from the ESPN–ERKNet dRTA sub-registry Open
Background and Aims Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by metabolic acidosis resulting from the inability of the distal nephron to secrete hydrogen ions. Recognized disease gene include ATP6V…
View article: Corrigendum to “Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children” [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1205-1212]
Corrigendum to “Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children” [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1205-1212] Open
View article: Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries Open
View article: Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Open
View article: Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report
Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report Open
Genetic testing is increasingly used to diagnose kidney diseases, proving cost-effective when performed on selected patients. We present the case of 2 brothers with proteinuria from a young age; one developed kidney insufficiency while the…
View article: Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children
Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children Open
In our cohort, children's DDS clinical trajectory was associated with exon localization. In the era of genomic newborn screening, depicting genetic risk is of utmost importance for personalized patient care.
View article: Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN
Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN Open
Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome is the second most common hereditary kidney disease characterized by persistent haematuria progressing to the need for ki…
View article: Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions Open
View article: #2606 Clinically boosted exome-sequencing is necessary for accurate and highly sensitive genetic diagnosis of ADTKD-MUC1
#2606 Clinically boosted exome-sequencing is necessary for accurate and highly sensitive genetic diagnosis of ADTKD-MUC1 Open
Background and Aims The human genome includes tandem repeats with variable length (VNTR) and a subset of these repeats have been associated with rare human diseases. Specific frameshift variants in the coding-VNTR of the MUC1 gene cause au…
View article: #382 Unexpected diagnoses of ADTKD-MUC1 with the help of VNtyper
#382 Unexpected diagnoses of ADTKD-MUC1 with the help of VNtyper Open
Background and Aims Autosomal dominant tubulointerstitial kidney disease (ADTKD) due to pathogenic variants in the MUC1 gene is difficult to diagnose since these variants lie in a large variable number tandem repeats (VNTR) and require spe…
View article: Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity Open
View article: Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence Open
View article: P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids*
P135: X-linked Alport syndrome: From transcriptomic diagnosis to preclinical assessment of splice-switching oligonucleotide therapy using patient-derived cells and kidney organoids* Open
Alport syndrome (AS) is the most common hereditary glomerulopathy caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes encoding different chains of the collagen IV protein (α3, α4, and α5, respectively). COL4A3 to 5 intera…
View article: P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases Open
The human genome includes tandem repeats with variable length (VNTR) and a subset of these repeats have been associated with rare human diseases. Specific frameshift variants in the coding-VNTR of the MUC1 gene cause autosomal dominant tub…
View article: VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease Open
The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease-MUC1 (ADTKD-MUC1) is caus…
View article: The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies Open
View article: Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension
Biallelic <i>NPR1</i> loss of function variants are responsible for neonatal systemic hypertension Open
Background Early-onset isolated systemic hypertension is a rare condition of unknown genetic origin. Renovascular, renal parenchymal diseases or aortic coarctation are the most common causes of secondary systemic hypertension in younger ch…
View article: Les grandes avancées en néphro-génétique pédiatrique
Les grandes avancées en néphro-génétique pédiatrique Open
L’essor de la génétique au cours des dernières décennies a permis des avancées majeures dans la compréhension des mécanismes conduisant aux maladies rénales héréditaires. Des premières études par clonage positionnel jusqu’à l’avènement du …
View article: Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing
Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing Open
Whole‐genome sequencing (WGS) now allows identification of multiple variants in non‐coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic …
View article: Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations Open
Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term ‘kidney dysplasia’ is frequently used in daily clinical life without histopathological confirm…
View article: Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis
Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis Open
Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fra…
View article: Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice Open
The overall diagnostic yield of massively parallel sequencing–based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These figures should encourage nephrologists to frequently use g…
View article: The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results Open
Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological …
View article: Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease
Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease Open
View article: Cystinuria: clinical practice recommendation
Cystinuria: clinical practice recommendation Open
View article: School level of children carrying a HNF1B variant or a deletion
School level of children carrying a HNF1B variant or a deletion Open
View article: The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design Open
Background Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are …