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Clin Immunol 2020 May 29:108488. Epub 2020 May 29.

Joint Rheumatology Program, National and Kapodistrian University of Athens Medical School, Laiko Hospital, Athens, Greece. Electronic address:

B-cell clonal expansion has been sporadically described in the blood and/or renal tissue of patients with glomerulonephritides, albeit with unclear pathogenetic role. Herein, using spectratyping analysis, we observed oligoclonal intrarenal B-cell populations in 59% of glomerulonephritis patients with podocyte injury (6/7 with focal segmental glomerulosclerosis, 1/3 minimal change disease, 1/3 idiopathic membranous nephropathy, 3/4 IgA nephropathy, 2/5 membranous lupus nephritis), 20% of glomerulonephritis patients without podocyte involvement (4/13 with mesangial or proliferative lupus nephritis, 0/3 idiopathic membranoproliferative glomerulonephritis, 0/4 pauci-immune vasculitis) and 17% of control patients with renal cancer. In multivariate analysis, oligoclonal B-cells were associated with podocyte injury and the grade of glomerulosclerosis (both p = . Read More

Front Immunol 2020 12;11:875. Epub 2020 May 12.

INSERM U1197, Villejuif, France.

Focal and segmental glomerulosclerosis (FSGS) is a frequent form of glomerulonephritis that may be caused by a soluble permeability factor and regulated by the immune system. We previously described a soluble form of calcium/calmodulin-dependent serine/threonine kinase (CASK) acting as a permeability factor in patients with recurrent FSGS (rFSGS). Here, we aimed to identify the immune cells associated with CASK secretion in patients with rFSGS. Read More

Clin Cardiol 2020 May 29. Epub 2020 May 29.

Division of Nephrology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Background: Metabolic syndrome (MS) and diabetes mellitus (DM) are risk factors for cardiovascular diseases in general population. However, there was a paucity of studies investigating their impact in primary glomerular diseases (PGD).

Hypothesis: MS and concomitant DM are associated with higher risk of cardiovascular comorbidity in PGD. Read More

Cell Mol Life Sci 2020 May 25. Epub 2020 May 25.

Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas and Universidad Autónoma de Madrid, Madrid, Spain.

Formins are a conserved family of proteins that primarily act to form linear polymers of actin. Despite their importance to the normal functioning of the cytoskeleton, for a long time, the only two formin genes known to be a genetic cause of human disorders were DIAPH1 and DIAPH3, whose mutation causes two distinct forms of hereditary deafness. In the last 10 years, however, the formin INF2 has emerged as an important target of mutations responsible for the appearance of focal segmental glomerulosclerosis, which are histological lesions associated with glomerulus degeneration that often leads to end-stage renal disease. Read More

Kidney Int 2020 May 21. Epub 2020 May 21.

III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

A wide spectrum of immunological functions has been attributed to Interleukin 9 (IL-9), including effects on the survival and proliferation of immune and parenchymal cells. In; recent years, emerging evidence suggests that IL-9 expression can promote tissue repair in; inflammatory conditions. However, data about the involvement of IL-9 in kidney tissue protection is very limited. Read More

Sci Rep 2020 May 22;10(1):8580. Epub 2020 May 22.

Department of pathology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

Anti-Thy1.1 transgenic mice develop glomerular lesions that mimic collapsing focal segmental glomerulosclerosis (FSGS) in humans with collapse of the glomerular tuft and marked hyperplasia of the parietal epithelial cells (PECs). Immunostaining of phosphor-S6 ribosomal protein (pS6RP) revealed high mTOR activity in PECs of the FSGS lesions of these mice. Read More

Clin J Am Soc Nephrol 2020 May 22. Epub 2020 May 22.

Assistance Publique des Hôpitaux de Paris, Hôpitaux Universitaires Henri Mondor, Service de Néphrologie et Transplantation, Centre de Référence Maladie Rare Syndrome Néphrotique Idiopathique, Créteil, France

Background And Objectives: Malaria, a potentially life-threatening disease, is the most prevalent endemic infectious disease worldwide. In the modern era, the spectrum of glomerular involvement observed in patients after malarial infections remains poorly described.

Design, Setting, Participants, & Measurements: We therefore performed a retrospective multicenter study to assess the clinical, biologic, pathologic, and therapeutic characteristics of patients with glomerular disease demonstrated by kidney biopsy in France within 3 months of an acute malaria episode. Read More

J Am Soc Nephrol 2020 Jun;31(6):1296-1313

Institute of Cell Dynamics and Imaging and Cells in Motion Interfaculty Centre, University of Münster, Münster, Germany

Background: Monogenic diseases provide favorable opportunities to elucidate the molecular mechanisms of disease progression and improve medical diagnostics. However, the complex interplay between genetic and environmental factors in disease etiologies makes it difficult to discern the mechanistic links between different alleles of a single locus and their associated pathophysiologies. Inverted formin 2 (INF2), an actin regulator, mediates a stress response-calcium mediated actin reset, or CaAR-that reorganizes the actin cytoskeleton of mammalian cells in response to calcium influx. Read More

Nephron 2020 May 20:1-5. Epub 2020 May 20.

Department of Endocrinology and Diabetes, Auckland City Hospital, Auckland, New Zealand.

The mitochondrial DNA mutation mt.3243A>G is most commonly associated with maternally inherited diabetes and deafness (MIM 52,000), but it has protean phenotypes including renal disease due to focal segmental glomerulosclerosis. We describe monozygotic twins who both harboured this mutation and developed ESRD. Read More

Clin Exp Nephrol 2020 May 19. Epub 2020 May 19.

Department of Pediatric Nephrology, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.

Background: Renal hypoplasia (RH) is the most common cause of chronic kidney disease in children. In cases of RH, proteinuria is often induced by glomerular hypertrophy and hyperfiltration that is commonly associated with focal segmental glomerulosclerosis. This study reports the first case series of a possible association between RH and membranous nephropathy (MN). Read More

Kidney Int 2020 Feb 19. Epub 2020 Feb 19.

Institute of Medical Science, University of Toronto, Toronto, Canada; Toronto General Hospital Research Institute, University Health Network, Toronto, Canada; Division of Nephrology, University Health Network, Toronto, Canada; Department of Physiology, University of Toronto, Toronto, Canada.

Tubulointerstitial injury is an important determinant of chronic kidney disease progression, yet treatment is limited. Accordingly, we derived a chronic kidney disease progression signature based on aging and disease in Col4a3 mice, a model associated with proteinuria and progressive loss of kidney function. Computational drug repurposing with the Connectivity Map identified vorinostat, a lysine deacetylase inhibitor, as a candidate treatment to reverse progression signature gene expression. Read More

Clin Med (Lond) 2020 Mar;20(Suppl 2):s111

Queen Elizabeth Hospital Birmingham, Birmingham, UK.

J Bras Nefrol 2020 May 8. Epub 2020 May 8.

Hospital Beneficência Portuguesa de São Paulo, Instituto de Gastrocirurgia Avançada, Programa de Cirurgia Geral e Aparelho Digestivo, São Paulo, SP, Brasil.

Encapsulating Peritoneal Sclerosis (EPS) is a severe and rare condition frequently associated with peritoneal dialysis, characterized by bowel obstruction, with lethal consequences in 20% of the patients. The disease presents as a mass of fibrous tissue encapsulating visceral organs that may potentially compromise digestive tract function. This report describes the case of a patient under peritoneal dialysis (PD) due to chronic kidney disease secondary to focal segmental glomerulosclerosis diagnosed with EPS. Read More

Pediatr Nephrol 2020 May 12. Epub 2020 May 12.

Division of Nephrology, Department of Internal Medicine, University of Michigan, Ann Arbor, USA.

Background: Urinary CD80 has emerged as potential biomarker in idiopathic nephrotic syndrome (INS). However, its cellular source remains controversial. The aim of the study was to assess whether CD80 is truly expressed by glomerular cells in INS patients during relapse and in the LPS mouse model of podocyte injury. Read More

Saudi J Kidney Dis Transpl 2020 Mar-Apr;31(2):528-532

Department of Nephrology, Akdeniz University, Faculty of Medicine, Antalya, Turkey.

Focal segmental glomerulosclerosis (FSGS) and other glomerulonephritis due to the use of 5-aminosalicylic acid derivatives have been reported in the literature. A 38-year-old male who had been using mesalazine for four years because of ulcerative colitis applied to doctor due to swelling in the lower extremities. The patient was diagnosed with nephrotic syndrome (NS). Read More

Pediatr Nephrol 2020 May 11. Epub 2020 May 11.

Division of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, 06230, Ankara, Turkey.

Background: Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined. Our study aimed to define clinical and genetic characteristics, establish genotype-phenotype correlations, and determine prognosis of AS in children. Read More

BMC Nephrol 2020 May 11;21(1):170. Epub 2020 May 11.

Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.

Background: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by microspheres or microtubular structures associated with podocytes infolding into the glomerular basement membrane (GBM) on electron microscopy (EM).

Case Presentation: A 4-year-old boy was admitted to our ward due to proteinuria and edema lasting 1 month. Read More

BMC Nephrol 2020 May 6;21(1):164. Epub 2020 May 6.

Department of Pathology, University of Sulaimani College of Medicine and Shoresh Teaching Hospital, Quirga Road, Sulaimani, Iraq.

Background: The incidence of kidney diseases among bodybuilders is unknown.

Methods: Between January 2011 and December 2019, the Iraqi Kurdistan 15 to 39 year old male population averaged 1,100,000 with approximately 56,000 total participants and 25,000 regular participants (those training more than 1 year). Annual age specific incidence rates (ASIR) with (95% confidence intervals) per 100,000 bodybuilders were compared with the general age-matched male population. Read More

Am J Kidney Dis 2020 Apr 28. Epub 2020 Apr 28.

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany. Electronic address:

Rationale & Objective: Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease but genetic testing reveals that the expected genotype is not present (phenocopy). The aim of this study was to evaluate the spectrum and frequency of phenocopies identified by using exome sequencing in a cohort of patients who were clinically suspected to have hereditary kidney disorders. Read More

Clin J Am Soc Nephrol 2020 May;15(5):587-588

Patient Advocate and Kidney Recipient, Peterson Regional Medical Center, Kerrville, Texas

Clin J Am Soc Nephrol 2020 Apr 30. Epub 2020 Apr 30.

Department of Medicine, Stanford University Medical Center, Stanford, California

Background And Objectives: IgA nephropathy is the most common primary glomerular disease in the world. Marked by mesangial inflammation and proliferation, it generally leads to progressive kidney fibrosis. As the Janus kinase signal transducer and activator of transcription pathway has been implicated as an important mediator of diabetic kidney disease and FSGS, detailed investigation of this pathway in IgA nephropathy was undertaken to establish the basis for targeting this pathway across glomerular diseases. Read More

Am J Nephrol 2020 Apr 29:1-11. Epub 2020 Apr 29.

Department of Nephrology, Institute of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai, China.

Background: Patients with focal segmental glomerulosclerosis (FSGS) characterized by steroid-resistant nephrotic syndrome (SRNS) are prone to progress to ESRD. Mechanism for the FSGS patients' response to steroid treatment is still unknown and currently, it is impossible to predict the steroid resistance before treatment of patients with FSGS.

Methods: To identify biomarkers and potential therapeutic targets of FSGS patients with SRNS, patients diagnosed as kidney biopsy-proven FSGS and nephrotic syndrome (NS) were prospectively enrolled. Read More

Kidney Int Rep 2020 Apr 28. Epub 2020 Apr 28.

Department of Medicine, Division of Nephrology, Columbia University Irving Medical Center.

Malays J Pathol 2020 Apr;42(1):131-135

Singapore General Hospital, Division of Pathology, Department of Anatomical Pathology, 20 College Road, Singapore 169856.

Introduction: Collagenofibrotic glomerulopathy or collagen type-III glomerulopathy is a rare glomerular disease characterised by the deposition of type III collagen fibres in the subendothelial space and mesangium of the glomerulus.

Case Report: Here, we present a case of collagenofibrotic glomerulopathy in a 49-year-old Indian female, the first to be reported from Singapore. Renal biopsy showed PAS (periodic acid-Schiff), silver and Congo red negative, amorphous extracellular material that expanded mesangial and subendothelial regions. Read More

Neth J Med 2020 Apr;78(3):133-135

Department of Internal Medicine, Haaglanden Medical Centre, the Netherlands.

We present a case with five auto-immune phenomena, including Sjögren's syndrome, for which we also diagnosed a tip lesion of focal segmental glomerulosclerosis (FSGS).v About one-third of Sjögren's syndrome patients have renal involvement, but FSGS is rarely reported. FSGS is thought to involve T-cell dysfunction and in this patient with multiple auto-immune phenomena, it may reflect a severe dysregulation of cellular immunity. Read More

Am J Kidney Dis 2020 Jun 21;75(6):955-964. Epub 2020 Apr 21.

Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY. Electronic address:

Podocyte injury is the initiating step in the pathway toward clinically evident forms of nephrotic syndrome known as podocytopathies, represented as either minimal change disease (MCD) or focal segmental glomerulosclerosis (FSGS). There are hallmark differences in the histologic appearances of MCD and FSGS, which in turn represent distinct pathogenic models after initial podocyte injury (eg, no change in podocyte number in MCD vs podocyte detachment and death in FSGS). However, MCD and FSGS also share a number of common causes, supporting the theory that these diseases lie along a shared podocytopathy spectrum. Read More

Kidney Dis (Basel) 2020 Mar 31;6(2):119-124. Epub 2020 Jan 31.

Division of Nephrology and Hypertension, Department of Internal Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.

Introduction: Minimal change disease (MCD) and primary focal segmental glomerulosclerosis (FSGS) are representative podocyte diseases. The clinical cause of MCD and FSGS has not been clearly elucidated yet. However, it is important to distinguish MCD and FSGS because their prognoses and responses to treatment are quite different. Read More

Am J Physiol Renal Physiol 2020 Jun 20;318(6):F1377-F1390. Epub 2020 Apr 20.

Departments of Medicine and Physiology, McGill University Health Centre Research Institute, McGill University, Montreal, Quebec, Canada.

Ste20-like kinase SLK is critical for embryonic development and may play an important role in wound healing, muscle homeostasis, cell migration, and tumor growth. Mice with podocyte-specific deletion of SLK show albuminuria and damage to podocytes as they age. The present study addressed the role of SLK in glomerular injury. Read More

Int Urol Nephrol 2020 Apr 18. Epub 2020 Apr 18.

Division of Nephrology, Department of Medicine, Penn State University College of Medicine, Hershey, PA, 17033, USA.

Purpose: To demonstrate the efficacy of combined rituximab and plasmapheresis (PP)/plasma exchange (PE) therapy for focal segmental glomerulosclerosis in transplanted kidneys (ptFSGS).

Methods: We searched MEDLINE, SCOPUS, and Cochrane Library for eligible publications. Only observational studies or clinical trials containing patients' age > 18 years were included for full-text extraction. Read More

BMC Nephrol 2020 Apr 17;21(1):138. Epub 2020 Apr 17.

Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China.

Background: Eosinophilic peritonitis is a relatively rare entity. Kimura's disease is a rare chronic inflammatory disorder of unknown etiology, characterized by subcutaneous nodules mainly in the head and neck region, regional lymphadenopathy and occasional involvement of kidney. There is currently no report of eosinophilic peritonitis in Kimura's disease. Read More

PLoS One 2020 17;15(4):e0231898. Epub 2020 Apr 17.

Division of Pediatric Nephrology and Gastroenterology, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Loss of podocyte differentiation can cause nephrotic-range proteinuria and Focal and Segmental Glomerulosclerosis (FSGS). As specific therapy is still lacking, FSGS frequently progresses to end-stage renal disease. The exact molecular mechanisms of FSGS and gene expression changes in podocytes are complex and widely unknown as marker changes have mostly been assessed on the glomerular level. Read More

BMC Nephrol 2020 Apr 15;21(1):134. Epub 2020 Apr 15.

Division of Nephrology, Department of Medicine, Penn State University College of Medicine, Hershey, PA, 17033, USA.

Background: Use of rituximab (RTX) for focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) is widely described in children. Clinical evidence in adults is limited. The objective of this study was to determine the treatment outcomes of RTX in adults with FSGS and MCD. Read More

Saudi Med J 2020 Apr;41(4):369-375

Department of Pediatric, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail.

Objectives: To identify the trends in the diagnostic frequency of glomerular disease subtypes by renal biopsy in children in Saudi Arabia over the last 20 years.

Methods: In this retrospective observational study, we identified all patients aged less than 18 years for whom native kidney biopsy was performed between 1998 and 2017. The period during which biopsy was performed (1998-2004, 2005-2011, and 2012-2017) and the demographic information and their association with the prevalence of various glomerular disease subtypes were our primary outcomes. Read More

Biosci Rep 2020 Apr;40(4)

Department of Nephrology, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, No. 548, Binwen Road, Hangzhou City, Zhejiang Province 310000, P. R. China.

Triptolide (TPL), the active component of Tripterygium wilfordii, exhibits anti-cancer and antioxidant functions. We aimed to explore the anti-apoptosis mechanism of TPL based on network pharmacology and in vivo and in vitro research validation using a rat model of focal segmental glomerulosclerosis (FSGS). The chemical structures and pharmacological activities of the compounds reported in T. Read More

Med J Malaysia 2020 03;75(2):152-157

Queen Elizabeth Hospital, Department of Nephrology, Sabah, Malaysia.

Objectives: To explore the epidemiological and histopathological patterns of glomerular diseases in Sabah.

Methods: A state-wide cross-sectional study was conducted. There were 336 native renal biopsies in 296 eligible patients from 1st January 2013 to 30th June 2016. Read More

Kidney Int Rep 2020 Apr 5;5(4):414-425. Epub 2019 Dec 5.

Division of Nephrology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

Introduction: Childhood-onset nephrotic syndrome has a variable clinical course. Improved predictive markers of long-term outcomes in children with nephrotic syndrome are needed. This study tests the association between baseline urinary epidermal growth factor (uEGF) excretion and longitudinal kidney function in children with nephrotic syndrome. Read More

Kidney Int Rep 2020 Apr 8;5(4):519-529. Epub 2020 Jan 8.

Department of Medicine, Division of Nephrology, Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, Massachusetts, USA.

Introduction: Focal segmental glomerulosclerosis (FSGS) is a histopathologically defined kidney lesion. FSGS can be observed with various underlying causes, including highly penetrant monogenic renal disease. We recently identified pathogenic variants of , a gene encoding the tubular protein uromodulin, in 8 families with suspected glomerular disease. Read More

Kidney Int Rep 2020 Apr 8;5(4):494-502. Epub 2020 Jan 8.

Research and Development, Retrophin, Inc., San Diego, California, USA.

Introduction: Focal segmental glomerulosclerosis (FSGS), a histologic lesion in the kidney caused by varied pathophysiological processes, leads to end-stage kidney disease in a large proportion of patients. Sparsentan is a first-in-class orally active compound combining endothelin type A (ET) receptor blockade with angiotensin II type 1 (AT) receptor antagonism in a single molecule. A Randomized, Multicenter, Double-Blind, Parallel, Active-Control Study of the Effects of Sparsentan, a Dual Endothelin Receptor and Angiotensin Receptor Blocker, on Renal Outcomes in Patients With Primary FSGS (DUPLEX) study evaluates the long-term antiproteinuric efficacy, nephroprotective potential, and safety profile of sparsentan compared with an AT receptor blocker alone in patients with FSGS. Read More

J Bras Nefrol 2020 Apr 3. Epub 2020 Apr 3.

Santa Casa de Belo Horizonte, Serviço de Nefrologia, Belo Horizonte, MG, Brazil.

The reported cases describe the association between collapsing focal segmental glomerulosclerosis (FSGS) and acute dengue virus infection. In both cases, patients were diagnosed with dengue virus infection and had a severe kidney disease, with nephrotic syndrome and acute kidney injury. Kidney biopsy was performed and showed collapsing FSGS. Read More

Cell Stress Chaperones 2020 May 2;25(3):495-501. Epub 2020 Apr 2.

Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Rossolimo 11/5, Moscow, Russia, 119435.

Heat shock proteins play an important role in immune inflammation and the formation and restoration of proteins. In recent years, the importance of heat shock protein 90 (Hsp90) in the activation of immune inflammation through nuclear factor kB (NFkB) has been discussed. To assess the activation of the Hsp90-NFkB system by measuring serum and urinary levels in patients with chronic glomerulonephritis (CGN). Read More

Intern Med 2020 Apr 2. Epub 2020 Apr 2.

Pediatric nephrology, Aichi Children's Health & Medical Center, Japan.

Mutations in the TTC21B gene have been identified in patients with nephronophthisis and were recently found in some patients with focal segmental glomerulosclerosis. We herein report a Japanese boy with end-stage renal disease due to medullary polycystic kidney disease and primary focal segmental glomerulosclerosis. Next-generation sequencing detected a new compound heterozygous missense mutation in the TTC21B gene. Read More

Sci Rep 2020 Mar 31;10(1):5719. Epub 2020 Mar 31.

First Department of Pathology, School of Medicine, National and Kapodistrian University of Athens, 75 Mikras Asias Street, Athens, 11527, Greece.

Although Heme Oxygenase-1 (HO-1) induction in various forms of kidney injury is protective, its role in age-related renal pathology is unknown. In the ageing kidney there is nephron loss and lesions of focal glomerulosclerosis, interstitial fibrosis, tubular atrophy and arteriolosclerosis. Underlying mechanisms include podocyte (visceral glomerular epithelial cell/GEC) injury. Read More

Curr Opin Nephrol Hypertens 2020 May;29(3):293-301

PARCC, INSERM, Université de Paris.

Purpose Of Review: The recent years have been marked by the publication of several articles highlighting the pathophysiological role of glomerular parietal epithelial cells (PEC) and refining their phenotypic heterogeneity.

Recent Findings: The present review synthetizes recent findings on (i) the potential regenerative role of PEC in glomerular diseases, and (ii) the mechanisms and signaling of leading to PEC pathogenic involvement in crescentic glomerulonephritis (CGN) and focal segmental glomerulosclerosis (FSGS).

Summary: The debate is still open regarding the podocyte regenerative properties of PEC in glomerular disease, whereas the pathogenic involvement of PEC activation in glomerular disease is increasingly admitted. Read More

Turk Pediatri Ars 2020 9;55(1):72-75. Epub 2020 Mar 9.

Department of Pediatric Nephrology, Dr. Sami Ulus Training and Research Hospital of Women's and Children's Health and Diseases, Ankara, Turkey.

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the gene or gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 years. Read More

Turk Pediatri Ars 2020 9;55(1):60-66. Epub 2020 Mar 9.

Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.

Aim: We aimed to evaluate the efficacy of rituximab therapy in children with nephrotic syndromes and to share our experiences.

Material And Methods: Twelve children with nephrotic syndrome (four with steroid-dependent, eight with steroid-resistant nephrotic syndrome) who were treated with rituximab were retrospectively evaluated in terms of clinical and laboratory data and CD19-20 levels. All patients received rituximab (375 mg/m) once weekly for 4 weeks. Read More

J Bras Nefrol 2020 03 20. Epub 2020 Mar 20.

Universidade Federal do Paraná, Departamento de Clínica Médica, Serviço de Nefrologia, Curitiba, PR, Brasil.

There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Read More

Clin J Am Soc Nephrol 2020 Mar 23. Epub 2020 Mar 23.

Division of Cell-Matrix Biology and Regenerative Medicine, Wellcome Centre for Cell-Matrix Research, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom;

The glomerular filtration barrier is a highly specialized capillary wall comprising fenestrated endothelial cells, podocytes, and an intervening basement membrane. In glomerular disease, this barrier loses functional integrity, allowing the passage of macromolecules and cells, and there are associated changes in both cell morphology and the extracellular matrix. Over the past three decades there has been a transformation in our understanding about glomerular disease, fueled by genetic discovery, and this is leading to exciting advances in our knowledge about glomerular biology and pathophysiology. Read More

J Hum Genet 2020 Jun 16;65(6):541-549. Epub 2020 Mar 16.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. We sequenced PAX2 in 457 patients with congenital anomalies of the kidney and urinary tract or with renal dysfunction of unknown cause and identified 19 different pathogenic variants in 38 patients from 30 families (6. Read More

Genet Med 2020 Mar 17. Epub 2020 Mar 17.

Departments of Internal Medicine, University of Iowa, Iowa City, IA, USA.

Purpose: A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management.

Methods: Retrospective review of patients seen over a two-year period in the RGC.

Results: One hundred eleven patients (mean age: 39. Read More

Curr Hypertens Rep 2020 Mar 21;22(5):36. Epub 2020 Mar 21.

Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy.

Purpose Of Review: We focus on the current understanding of preeclampsia (PE) in order to examine how it mediates glomerular injury and affects the course of glomerulonephritis (GNs). In addition, this review discusses the role of GNs on the development of PE.

Recent Findings: In PE, the dysfunctional utero-placental perfusion causes the release into the mother's circulation of anti-angiogenic substances, leading to systemic endotheliosis. Read More