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Article ; Online: Renal tubular dysgenesis.

Gubler, Marie-Claire

2013 Volume 29, Issue 1, Page(s) 51–59

Abstract: Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. ...

Abstract	Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. In most cases, early death occurs from pulmonary hypoplasia, anuria and refractory arterial hypotension. RTD may be acquired during foetal development or inherited as an autosomal recessive disease. Inherited RTD is genetically heterogeneous and linked to mutations in the genes encoding the major components of the renin-angiotensin system (RAS): angiotensinogen, renin, angiotensin-converting enzyme or angiotensin II receptor type 1. Mutations result in either the absence of production or lack of efficacy of angiotensin II. Secondary RTD has been observed in various situations, particularly in the donor twin of severe twin-to-twin transfusion syndrome, in foetuses affected with congenital haemochromatosis or in foetuses exposed to RAS blockers. All cases result in renal hypoperfusion. These examples illustrate the importance of a functional RAS in the maintenance of blood pressure and renal blood flow for humans during foetal life. The diagnosis of RTD in an anuric foetus with normal renal sonography results is important for the management of the foetus or neonate. Depending on the genetic or secondary cause of the disease, such findings can lead to genetic counselling or the prevention of recurrence in subsequent pregnancies.
MeSH term(s)	Female ; Fetofetal Transfusion/complications ; Humans ; Infant, Newborn ; Kidney Tubules, Proximal/abnormalities ; Kidney Tubules, Proximal/pathology ; Kidney Tubules, Proximal/physiopathology ; Pregnancy ; Urogenital Abnormalities/etiology ; Urogenital Abnormalities/pathology ; Urogenital Abnormalities/physiopathology
Language	English
Publishing date	2013-05-01
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-013-2480-1
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Article ; Online: Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases.

Smerkous, David / Mauer, Michael / Tøndel, Camilla / Svarstad, Einar / Gubler, Marie-Claire / Nelson, Robert G / Oliveira, João-Paulo / Sargolzaeiaval, Forough / Najafian, Behzad

Kidney international

2023 Volume 105, Issue 1, Page(s) 165–176

Abstract: Podocyte injury plays a key role in pathogenesis of many kidney diseases with increased podocyte foot process width (FPW), an important measure of podocyte injury. Unfortunately, there is no consensus on the best way to estimate FPW and unbiased ... ...

Abstract	Podocyte injury plays a key role in pathogenesis of many kidney diseases with increased podocyte foot process width (FPW), an important measure of podocyte injury. Unfortunately, there is no consensus on the best way to estimate FPW and unbiased stereology, the current gold standard, is time consuming and not widely available. To address this, we developed an automated FPW estimation technique using deep learning. A U-Net architecture variant model was trained to semantically segment the podocyte-glomerular basement membrane interface and filtration slits. Additionally, we employed a post-processing computer vision approach to accurately estimate FPW. A custom segmentation utility was also created to manually classify these structures on digital electron microscopy (EM) images and to prepare a training dataset. The model was applied to EM images of kidney biopsies from 56 patients with Fabry disease, 15 with type 2 diabetes, 10 with minimal change disease, and 17 normal individuals. The results were compared with unbiased stereology measurements performed by expert technicians unaware of the clinical information. FPW measured by deep learning and by the expert technicians were highly correlated and not statistically different in any of the studied groups. A Bland-Altman plot confirmed interchangeability of the methods. FPW measurement time per biopsy was substantially reduced by deep learning. Thus, we have developed a novel validated deep learning model for FPW measurement on EM images. The model is accessible through a cloud-based application making calculation of this important biomarker more widely accessible for research and clinical applications.
MeSH term(s)	Humans ; Diabetic Nephropathies/diagnosis ; Diabetic Nephropathies/pathology ; Diabetes Mellitus, Type 2 ; Deep Learning ; Glomerular Basement Membrane/pathology ; Biopsy
Language	English
Publishing date	2023-09-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2023.09.011
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Book ; Conference proceedings: Progress in basement membrane research

Gubler, Marie-Claire

renal and related aspects in health and disease ; proceedings of the IVth International Symposium on Renal Basement Membranes and Related Research held in Paris, 21 - 25 July 1987 = Données récentes sur les membranes basales rénales normales et pathologiques

1988

Title variant	Données récentes sur les membranes basales rénales normales et pathologiques
Event/congress	International Symposium on Renal Basement Membranes and Related Research (4, 1987, Paris)
Author's details	ed. by Marie-Claire Gubler
Keywords	Basement Membrane / congresses ; Glomerulus ; Basalmembran ; Membran ; Niere
Subject	Nephros ; Ren ; Basallamina ; Glomerulum
Language	English
Size	XVII, 364 S. : Ill., graph. Darst.
Publisher	Libbey
Publishing place	London u.a.
Publishing country	Great Britain
Document type	Book ; Conference proceedings
Note	Text in engl.
HBZ-ID	HT003478822
ISBN	0-86196-153-6 ; 978-0-86196-153-5
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: Syndrome d’Alport : néphropathie héréditaire associée à des mutations dans les gènes codant les chaînes de collagène de type IV.

Heidet, Laurence / Gubler, Marie-Claire

Nephrologie & therapeutique

2016 Volume 12, Issue 7, Page(s) 544–551

Abstract: Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular ... ...

Title translation	Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains.
Abstract	Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular involvement. Its incidence is less than 1 per 5000 individuals and the disease is the cause of about 2% of end stage renal disease in Europe and the United States. Alport syndrome is clinically and genetically heterogeneous. It is related to mutations in the genes encoding one of three chains, α3, α4 α5 of type IV collagen, the main component of basement membranes, expressed in the glomerular basement membrane. COL4A5 mutations are associated with X-linked Alport syndrome, which represents 80 to 85% of cases and is more severe in boys than in girls. Mutations in COL4A3 or COL4A4 are associated with autosomal Alport syndrome. The expression of collagen chains in skin and kidney basement membranes allows for the diagnosis and characterization of the mode of transmission in most patients. It is necessary to diagnose this syndrome because its family involvement, its severity, and the importance of genetic counseling. Angiotensin blockers are increasingly prescribed in proteinuric patients. Prospective studies are needed to assess the effectiveness of these treatments on proteinuria and progression of kidney failure, and to specify indications. Animal studies have shown the potential value of different molecules (protease inhibitors, chemokine receptor blockers, transforming growth factor-β1 inhibitors, hydroxy-methyl-coenzyme A reductase inhibitors, bone morphogenetic protein-7 inhibitors), hematopoietic stem cells, and of a anti-micro-RNA.
Language	French
Publishing date	2016-12
Publishing country	France
Document type	Journal Article ; English Abstract
ZDB-ID	2229575-6
ISSN	1872-9177 ; 1769-7255
ISSN (online)	1872-9177
ISSN	1769-7255
DOI	10.1016/j.nephro.2016.09.001
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Article ; Online: Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Najafian, Behzad / Tøndel, Camilla / Svarstad, Einar / Gubler, Marie-Claire / Oliveira, João-Paulo / Mauer, Michael

Journal of the American Society of Nephrology : JASN

2020 Volume 31, Issue 4, Page(s) 865–875

Abstract: Background: In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding : Methods: In this study of 55 males (mean age 27 years) with classic Fabry disease genotype ... ...

Abstract	Background: In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding Methods: In this study of 55 males (mean age 27 years) with classic Fabry disease genotype and/or phenotype, we performed unbiased quantitative morphometric electron microscopic studies of biopsied kidney samples from patients and seven living transplant donors (to serve as controls). We extracted clinical information from medical records and clinical trial databases. Results: Podocyte GL3 volume fraction (proportion of podocyte cytoplasm occupied by GL3) increased with age up to about age 27, suggesting that increasing podocyte GL3 volume fraction beyond a threshold may compromise survival of these cells. GL3 accumulation was associated with podocyte injury and loss, as evidenced by increased foot process width (a generally accepted structural marker of podocyte stress and injury) and with decreased podocyte number density per glomerular volume. Worsening podocyte structural parameters (increasing podocyte GL3 volume fraction and foot process width) was also associated with increasing urinary protein excretion-a strong prognosticator of adverse renal outcomes in Fabry disease-as well as with decreasing GFR. Conclusions: Given the known association between podocyte loss and irreversible FSGS and global glomerulosclerosis, this study points to an important role for podocyte injury and loss in the progression of Fabry nephropathy and indicates a need for therapeutic intervention before critical podocyte loss occurs.
MeSH term(s)	Adolescent ; Adult ; Age Factors ; Case-Control Studies ; Child ; Child, Preschool ; Fabry Disease/metabolism ; Fabry Disease/pathology ; Glomerular Filtration Rate ; Humans ; Kidney Glomerulus/metabolism ; Kidney Glomerulus/pathology ; Male ; Middle Aged ; Podocytes/metabolism ; Podocytes/pathology ; Trihexosylceramides/metabolism ; Young Adult
Chemical Substances	Trihexosylceramides ; globotriaosylceramide (71965-57-6)
Language	English
Publishing date	2020-03-03
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.2019050497
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Article ; Online: Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.

Fila, Marc / Morinière, Vincent / Eckart, Philippe / Terzic, Joelle / Gubler, Marie-Claire / Antignac, Corinne / Heidet, Laurence

Pediatric nephrology (Berlin, Germany)

2020 Volume 35, Issue 6, Page(s) 1125–1128

Abstract: Background: Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of ... ...

Abstract	Background: Bi-allelic loss of function variations in genes encoding proteins of the renin-angiotensin system (AGT, ACE, REN, AGTR1) are associated with autosomal recessive renal tubular dysgenesis, a severe disease characterized by the absence of differentiated proximal tubules leading to fetal anuria and neonatal end-stage renal disease. Case-diagnosis/treatment: We identified bi-allelic loss of function mutations in ACE, the gene encoding angiotensin-converting enzyme, in 3 unrelated cases displaying progressive chronic renal failure, whose DNAs had been sent for suspicion of juvenile hyperuricemic nephropathy, nephronophthisis, and cystic renal disease, respectively. In all cases, patients were affected with anemia whose severity was unexpected regarding the level of renal failure and with important polyuro-polydipsia. Conclusions: Bi-allelic loss of function mutation of ACE can have atypical and sometimes late presentation with chronic renal failure, anemia (out of proportion with the level of renal failure), and polyuro-polydipsia. These data illustrate the usefulness of next generation sequencing and "agnostic" approaches to elucidate cases with chronic kidney disease of unknown etiology and to broaden the spectrum of phenotypes of monogenic renal diseases. It also raises the question of genetic modifiers involved in the variation of the phenotypes associated with these mutations.
MeSH term(s)	Adolescent ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Kidney Tubules, Proximal/abnormalities ; Male ; Mutation ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/genetics ; Renin-Angiotensin System/genetics ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics
Language	English
Publishing date	2020-03-20
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-020-04524-4
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Article: Podocyte differentiation and hereditary proteinuria/nephrotic syndromes.

Gubler, Marie-Claire

Journal of the American Society of Nephrology : JASN

2003 Volume 14 Suppl 1, Page(s) S22–6

Abstract: The study of familial nephrotic syndromes (NS) and the analysis of murine models of glomerular diseases resulted in major progresses in the knowledge of podocyte physiology and pathology. Numerous proteins participating in the composition of the slit ... ...

Abstract	The study of familial nephrotic syndromes (NS) and the analysis of murine models of glomerular diseases resulted in major progresses in the knowledge of podocyte physiology and pathology. Numerous proteins participating in the composition of the slit diaphragm region have been identified. The importance of several of them (nephrin, podocin, CD2AP, and Neph1) in the maintenance of the glomerular filtration barrier has been demonstrated by the occurrence of massive proteinuria when they are defective. The role of the cytoskeleton has been revealed by the development of proteinuria/NS in patients with ACTN4 mutation and the occurrence of early and severe NS in alpha-actinin-4-deficient mice. Given the genetic heterogeneity of familial NS and the many other genes to be identified, further insights in the molecular basis of the role of the podocyte in the maintenance of the glomerular filtration barrier may be expected in the near future.
MeSH term(s)	Animals ; Cell Differentiation ; Humans ; Kidney Glomerulus/pathology ; Nephrotic Syndrome/congenital ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/pathology ; Proteinuria/congenital ; Proteinuria/genetics ; Proteinuria/pathology
Language	English
Publishing date	2003-05-14
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1097/01.asn.0000067648.75923.68
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Article ; Online: The renal inflammatory network of nephronophthisis.

Quatredeniers, Marceau / Bienaimé, Frank / Ferri, Giulia / Isnard, Pierre / Porée, Esther / Billot, Katy / Birgy, Eléonore / Mazloum, Manal / Ceccarelli, Salomé / Silbermann, Flora / Braeg, Simone / Nguyen-Khoa, Thao / Salomon, Rémi / Gubler, Marie-Claire / Kuehn, E Wolfgang / Saunier, Sophie / Viau, Amandine

Human molecular genetics

2022 Volume 31, Issue 13, Page(s) 2121–2136

Abstract: Renal ciliopathies are the leading cause of inherited kidney failure. In autosomal dominant polycystic kidney disease (ADPKD), mutations in the ciliary gene PKD1 lead to the induction of CCL2, which promotes macrophage infiltration in the kidney. Whether ...

Abstract	Renal ciliopathies are the leading cause of inherited kidney failure. In autosomal dominant polycystic kidney disease (ADPKD), mutations in the ciliary gene PKD1 lead to the induction of CCL2, which promotes macrophage infiltration in the kidney. Whether or not mutations in genes involved in other renal ciliopathies also lead to immune cells recruitment is controversial. Through the parallel analysis of patients' derived material and murine models, we investigated the inflammatory components of nephronophthisis (NPH), a rare renal ciliopathy affecting children and adults. Our results show that NPH mutations lead to kidney infiltration by neutrophils, macrophages and T cells. Contrary to ADPKD, this immune cell recruitment does not rely on the induction of CCL2 in mutated cells, which is dispensable for disease progression. Through an unbiased approach, we identified a set of inflammatory cytokines that are upregulated precociously and independently of CCL2 in murine models of NPH. The majority of these transcripts is also upregulated in NPH patient renal cells at a level exceeding those found in common non-immune chronic kidney diseases. This study reveals that inflammation is a central aspect in NPH and delineates a specific set of inflammatory mediators that likely regulates immune cell recruitment in response to NPH genes mutations.
MeSH term(s)	Adult ; Animals ; Child ; Ciliopathies/genetics ; Fibrosis ; Humans ; Kidney ; Mice ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant/genetics ; TRPP Cation Channels/genetics
Chemical Substances	TRPP Cation Channels
Language	English
Publishing date	2022-01-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac014
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Article ; Online: Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Dorval, Guillaume / Jeanpierre, Cécile / Morinière, Vincent / Tournant, Carole / Bessières, Bettina / Attié-Bittach, Tania / Amiel, Jeanne / Spaggari, Emmanuel / Ville, Yves / Merieau, Elodie / Gubler, Marie-Claire / Saunier, Sophie / Heidet, Laurence

Pediatric nephrology (Berlin, Germany)

2021 Volume 36, Issue 8, Page(s) 2361–2369

Abstract: Background: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 ... ...

Abstract	Background: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A, that particular variant in the promoter of the gene, either in the homozygous state or associated with a mutation in the coding exons of the gene, is thought to restrict the N-glycosylation defect to the kidney and the pancreas. Methods: Targeted exome sequencing of a panel of genes involved in monogenic kidney diseases. Results: We identified a PMM2 variant at position -167 associated with a pathogenic PMM2 variant in the coding exons in 3 families, comprising 6 cases affected with a cystic kidney disease. The spectrum of phenotypes was very broad, from extremely enlarged fetal cystic kidneys in the context of a COACH-like syndrome, to isolated cystic kidney disease with small kidneys, slowly progressing toward kidney failure in adulthood. Hypoglycemia was reported only in one case. Conclusion: These data show that the PMM2 promotor variation, in trans of a PMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening of PMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults. Graphical Abstract.
MeSH term(s)	Congenital Hyperinsulinism ; Humans ; Mutation ; Phenotype ; Phosphotransferases (Phosphomutases) ; Polycystic Kidney Diseases ; Promoter Regions, Genetic ; Syndrome
Chemical Substances	Phosphotransferases (Phosphomutases) (EC 5.4.2.-) ; phosphomannomutase (EC 5.4.2.8) ; phosphomannomutase 2, human (EC 5.4.2.8)
Language	English
Publishing date	2021-02-13
Publishing country	Germany
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-021-04953-9
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Article ; Online: The renal lesions of Alport syndrome.

Heidet, Laurence / Gubler, Marie-Claire

Journal of the American Society of Nephrology : JASN

2009 Volume 20, Issue 6, Page(s) 1210–1215

Abstract: Alport syndrome is a hereditary, progressive, hematuric nephropathy characterized by glomerular basement membrane abnormalities with frequent hearing defects and ocular anomalies. The disease is associated with mutations in genes encoding the alpha3, ... ...

Abstract	Alport syndrome is a hereditary, progressive, hematuric nephropathy characterized by glomerular basement membrane abnormalities with frequent hearing defects and ocular anomalies. The disease is associated with mutations in genes encoding the alpha3, alpha4, or alpha5 chains of type IV collagen, COL4A3, or COL4A4 in the autosomal forms of the disease, COL4A5 in the more frequent X-linked variety. Ultrastructural changes in the glomerular basement membrane and frequent abnormal expression of type IV collagen chains in renal and skin basement membranes are crucial elements for the diagnosis of Alport syndrome, determination of the mode of inheritance, and genetic counseling. Animal models have provided invaluable tools to study the mechanisms leading to progressive deterioration of the glomerular basement membrane and ultimately to renal failure, and to evaluate benefits of potential targeted therapies.
MeSH term(s)	Adult ; Animals ; Biopsy ; Child ; Female ; Humans ; Kidney/pathology ; Male ; Nephritis, Hereditary/pathology ; Nephritis, Hereditary/physiopathology ; Nephritis, Hereditary/therapy
Language	English
Publishing date	2009-06
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.2008090984
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