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Nephrotic Syndrome

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23 papers 25 to 100 followers
By P O Pediatrics, Nephrology
Lisa Maria Hillen, Erik Jan Kamsteeg, Jeroen Schoots, Anton Tom Tiebosch, Ernst Jan Speel, Guido M Roemen, Carine J Peutz-Koostra, Constance T R M Stumpel
Congenital nephrotic syndrome (CNS) caused by a mutation in the Wilms tumor 1 suppressor gene (WT1) is part of Denys Drash Syndrome or Frasier syndrome. In the framework of genetic counseling, the diagnosis of CNS can be refined with gene mutation studies on long-term stored formalin-fixed paraffin-embedded tissue from postmortem examination. We report a case of diffuse mesangial sclerosis with perinatal death caused by a de novo mutation in the WT1 gene in a girl with an XY-genotype. This is the first case of Denys Drash Syndrome with the uncommon missense c...
2016: Fetal and Pediatric Pathology
Daniela A Braun, Carolin E Sadowski, Stefan Kohl, Svjetlana Lovric, Susanne A Astrinidis, Werner L Pabst, Heon Yung Gee, Shazia Ashraf, Jennifer A Lawson, Shirlee Shril, Merlin Airik, Weizhen Tan, David Schapiro, Jia Rao, Won-Il Choi, Tobias Hermle, Markus J Kemper, Martin Pohl, Fatih Ozaltin, Martin Konrad, Radovan Bogdanovic, Rainer Büscher, Udo Helmchen, Erkin Serdaroglu, Richard P Lifton, Wolfram Antonin, Friedhelm Hildebrandt
Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have been attributed to NPC dysfunction. Steroid-resistant nephrotic syndrome (SRNS), a frequent cause of chronic kidney disease, is caused by dysfunction of glomerular podocytes. Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. NUP93 mutations caused disrupted NPC assembly. NUP93 knockdown reduced the presence of NUP205 in the NPC, and, reciprocally, a NUP205 alteration abrogated NUP93 interaction...
April 2016: Nature Genetics
Julien Hogan, Marc Fila, Véronique Baudouin, Michel Peuchmaur, Georges Deschênes, Olivier Niel
BACKGROUND: Nephrotic syndrome is a relatively rare but serious condition in children. Infantile nephrotic syndrome often has a genetic origin; the treatment is then symptomatic, with a poor prognosis, and a rapid evolution to chronic kidney disease. However, non-genetic infantile nephrotic syndrome has been identified. Here we report for the first time in a child a nephrotic syndrome as the sole clinical expression of a cytomegalovirus infection. CASE PRESENTATION: The patient was 5 months old when he presented with a nephrotic syndrome...
2015: BMC Nephrology
Svjetlana Lovric, Shazia Ashraf, Weizhen Tan, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of chronic kidney disease in the first three decades of life. It manifests histologically as focal segmental glomerulosclerosis (FSGS) and carries a 33% risk of relapse in a renal transplant. No efficient treatment exists. Identification of single-gene (monogenic) causes of SRNS has moved the glomerular epithelial cell (podocyte) to the center of its pathogenesis. Recently, mutations in >30 recessive or dominant genes were identified as causing monogenic forms of SRNS, thereby revealing the encoded proteins as essential for glomerular function...
October 27, 2015: Nephrology, Dialysis, Transplantation
Marta Azocar, Álvaro Vega, Mauricio Farfán, Francisco Cano
UNLABELLED: Podocin is a protein located in the glomerular slit diaphragm where it takes part in the regulation of glomerular filtration. Mutations of the NPHS2 gene that codes podocin are the main cause of autosomal recessive steroid resistant nephrotic syndrome (SRNS). OBJECTIVES: To identify the NPHS2 mutations in Chilean children with SRNS, and to determine the prevalence of the most common variants in a group of healthy adults. PATIENTS AND METHODS: Mutation analysis of NPHS2 in 34 Chilean children with SRNS...
January 2016: Revista Chilena de Pediatría
Margaret Duffy, Shashank Jain, Nicholas Harrell, Neil Kothari, Alluru S Reddi
The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema...
October 7, 2015: Cells
Mara Sanches Guaragna, Anna Cristina G B Lutaif, Cristiane S C Piveta, Marcela L Souza, Suéllen R de Souza, Taciane B Henriques, Andréa T Maciel-Guerra, Vera M S Belangero, Gil Guerra-Junior, Maricilda P De Mello
BACKGROUND: Nephrotic syndrome is traditionally classified on the basis of the response to standard steroid treatment. Mutations in more than 24 genes have been associated with nephrotic syndrome in children, although the great majority of steroid-resistant cases have been attributed to mutations in three main genes: NPHS1, NPHS2 and WT1. The aims of this study were to identify mutations in these genes more frequently reported as mutated and to characterize each variation using different in silico prediction algorithms in order to understand their biological functions...
2015: BMC Medical Genetics
Pilar Hevia, Vilma Nazal, María Pía Rosati, Lily Quiroz, Claudia Alarcón, Sonia Márquez, Karen Cuevas
Idiopathic nephrotic syndrome is the most common glomerular disease in childhood, affecting 1 to 3 per 100,000 children under the age of 16. It most commonly occurs in ages between 2 and 10. Its cause is unknown, and its histology corresponds to minimal change disease in 90% of cases, or focal segmental glomerulosclerosis. Steroid-resistant nephrotic syndrome represents 10-20% of idiopathic nephrotic syndrome in pediatrics. It has a poor prognosis, and its management is a significant therapeutic challenge. Half of patients evolve to end-stage renal disease within 5 years, and are additionally exposed to complications secondary to persistent NS and to the adverse effects of immunosuppressive therapy...
September 2015: Revista Chilena de Pediatría
L B Xu, N Chi, W Shi
This study examined the mechanism of action of amiloride, a urokinase-type plasminogen activator receptor inhibitor, in lowering proteinuria. Podocytes were resuscitated to allow for their proliferation and were observed for morphological changes. In the in vitro experiment, control, lipopolysaccharide, and lipopolysaccharide + amiloride groups were established. The expression of urokinase-type plasminogen activator receptor (uPAR) in podocytes was detected with a flow cytometer and cell motility was detected with the transwell migration assay...
2015: Genetics and Molecular Research: GMR
Benedicte Eneman, Elena Levtchenko, Bert van den Heuvel, Chris Van Geet, Kathleen Freson
Nephrotic syndrome (NS) is a common kidney disease associated with a significantly increased risk of thrombotic events. Alterations in plasma levels of pro- and anti-coagulant factors are involved in the pathophysiology of venous thrombosis in NS. However, the fact that the risk of both venous and arterial thrombosis is elevated in NS points to an additional role for blood platelets. Increased platelet counts and platelet hyperactivity have been observed in nephrotic children. Platelet hyperaggregability, increased release of active substances, and elevated surface expression of activation-dependent platelet markers have been documented...
August 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Muhammed Mubarak, Ali Lanewala, Seema Hashmi
No abstract text is available yet for this article.
July 2015: Journal of Nephropathology
David G Warnock
No abstract text is available yet for this article.
September 1, 2015: American Journal of Physiology. Renal Physiology
Zhongbo Yang, Thomas Loew, Richard D Hammer
Haematopoietic abnormalities associated with tacrolimus are relatively rare with reversible pure red cell aplasia being the most common. We report for the first time, to our best knowledge, tacrolimus therapy associated with bone marrow fibrosis, abnormal megakaryocytosis, and dyserythopoiesis in a 17-year-old male treated with tacrolimus for nephrotic syndrome.
July 2015: Clinical Case Reports
Emine Korkmaz, Beata S Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer
Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.9% among 534 consecutively screened cases. Patients with ADCK4 mutations showed a largely renal-limited phenotype, with three subjects exhibiting occasional seizures, one subject exhibiting mild mental retardation, and one subject exhibiting retinitis pigmentosa...
January 2016: Journal of the American Society of Nephrology: JASN
Rachel Lennon, Michael J Randles, Martin J Humphries
Podocytes are specialized epithelial cells that cover the outer surfaces of glomerular capillaries. Unique cell junctions, known as slit diaphragms, which feature nephrin and Neph family proteins in addition to components of adherens, tight, and gap junctions, connect adjacent podocyte foot processes. Single gene disorders affecting the slit diaphragm result in nephrotic syndrome in humans, characterized by massive loss of protein across the capillary wall. In addition to specialized cell junctions, interconnecting podocytes also adhere to the glomerular basement membrane (GBM) of the capillary wall...
2014: Frontiers in Endocrinology
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A Kari, Martin Zenker, Markus J Kemper, Dominik Mueller, Hanan M Fathy, Neveen A Soliman, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated...
June 2015: Journal of the American Society of Nephrology: JASN
Rasheed A Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E Hunley, Patrick D Brophy, Arvind Bagga, Aditi Sinha, Michelle N Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P Winn
Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were tested (odds ratio, 2...
July 2015: Journal of the American Society of Nephrology: JASN
Yoshiyasu Fukusumi, Naoko Miyauchi, Taeko Hashimoto, Akira Saito, Hiroshi Kawachi
The slit diaphragm bridging the neighboring foot processes functions as a final barrier of glomerular capillary wall for preventing the leak of plasma proteins into primary urine. It is now accepted that the dysfunction of the sit diaphragm contributes to the development of proteinuria in several glomerular diseases. Nephrin, a gene product of NPHS1, a gene for a congenital nephrotic syndrome of Finnish type, constitutes an extracellular domain of the slit diaphragm. Podocin was identified as a gene product of NPHS2, a gene for a familial steroid-resistant nephrotic syndrome of French...
August 6, 2014: World Journal of Nephrology
Eduardo H Garin, Jochen Reiser, Gabriel Cara-Fuentes, Changli Wei, Dany Matar, Heiman Wang, Nada Alachkar, Richard J Johnson
BACKGROUND: Minimal Change Disease (MCD) in relapse is associated with increased podocyte CD80 expression and elevated urinary CD80 excretion, whereas focal segmental glomerulosclerosis (FSGS) has mild or absent CD80 podocyte expression and normal urinary CD80 excretion. METHODS: One patient with MCD, one patient with primary FSGS and three patients with recurrent FSGS after transplantation received CD80 blocking antibodies (abatacept or belatacept). Urinary CD80 and CTLA-4 levels were measured by ELISA...
March 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Andrea Pasini, Gabriella Aceto, Anita Ammenti, Gianluigi Ardissino, Vitalba Azzolina, Alberto Bettinelli, Elena Cama, Sante Cantatore, Antonella Crisafi, Giovanni Conti, Maria D'Agostino, Alessandra Dozza, Alberto Edefonti, Carmelo Fede, Elena Groppali, Chiara Gualeni, Alessandra Lavacchini, Marta Lepore, Silvio Maringhini, Paola Mariotti, Marco Materassi, Francesca Mencarelli, Giovanni Messina, Amata Negri, Marina Piepoli, Fiammetta Ravaglia, Angela Simoni, Laura Spagnoletta, Giovanni Montini
BACKGROUND: The optimal therapeutic regimen for managing childhood idiopathic nephrotic syndrome (INS) is still under debate. We have evaluated the choice of steroid regimen and of symptomatic treatment adopted by pediatricians and pediatric nephrologists in a large number of centers as the first step towards establishing a shared protocol METHODS: This was a multicenter, retrospective study. A total of 231 children (132 admitted to pediatric units) aged 6 months to <15 years who presented with onset of nephrotic syndrome to 54 pediatric units and six pediatric nephrology units in Italy between 2007 and 2009 were eligible for entry into the study...
January 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
2014-09-14 08:36:27
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