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Int Urol Nephrol 2021 May 15. Epub 2021 May 15.

Nephrology Clinic, Dialysis and Renal Transplant Center, 'C.I. Parhon' University Hospital, and "Grigore T. Popa" University of Medicine, Iasi, Romania.

Purpose: The aim of this retrospective study was: to analyze the epidemiological patterns of the kidney disease based on clinical and histological features in a single-center in the N-E region of Romania, between 2011 and 2019 and to compare the biopsy results with the others periods, as well as the results from other countries.

Methods: We studied 442 renal biopsies. The indications for renal biopsy were represented by the clinical features: nephrotic syndrome, nephritic syndrome, asymptomatic urinary abnormalities, acute kidney injury, and chronic kidney disease of unknown etiology. Read More

Am J Med Genet A 2021 May 14. Epub 2021 May 14.

Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation. Read More

Ann Transplant 2021 May 14;26:e931873. Epub 2021 May 14.

Department of Nephrology, Kanazawa Medical University School of Medicine, Uchinada, Ishikawa, Japan.

BACKGROUND Nationwide data on allograft kidney biopsies have been limited in number, in contrast to the large amount of accumulated data on native kidney biopsies. In this context, we have surveyed transplant biopsy data based on the nationwide database, the Japan Renal Biopsy Registry (J-RBR). MATERIAL AND METHODS A total of 2430 transplant biopsy cases were registered in the web-based J-RBR from January 2007 to January 2018. Read More

Turk J Med Sci 2021 May 14. Epub 2021 May 14.

Background And Aim: Compared to healthy controls, mean platelet volume (MPV) is frequently higher in patients with Familial Mediterranean fever (FMF) but lower in AA amyloidosis patients. The reason for the difference in MPV levels in FMF patients with and without AA amyloidosis is unclear. The aim of the study was to determine whether low MPV is unique to AA amyloidosis or MPV is similarly low in all glomerular diseases as a result of proteinuria and/or renal dysfunction. Read More

Nephron 2021 May 11:1-6. Epub 2021 May 11.

Department of Nephrology, Osaka University Graduate School of Medicine, Suita, Japan.

The MAFB gene encodes an important basic leucine zipper transcription factor that functions in glomerular podocytes, macrophages, and osteoclasts. Recently, MAFB was identified as the gene that was responsible for causing nephropathy with focal segmental glomerulosclerosis (FSGS) with multicentric carpotarsal osteolysis (MCTO) or Duane retraction syndrome (DRS). Here, we describe a patient with nephropathy associated with FSGS who exhibited a novel stop-gain variant in the MAFB gene (NM_005461:c. Read More

Medicine (Baltimore) 2021 May;100(18):e25857

Department of Internal Medicine, Research Institute of Clinical Medicine, Jeonbuk National University Medical School.

Rationale: Focal segmental glomerulosclerosis (FSGS) is one of the most common glomerular diseases, leading to end-stage renal disease. Among the 5 variants of FSGS, the collapsing variant is rare and has the worst prognosis. Solid and hematologic malignancies are associated with glomerular diseases, such as membranous nephropathy, minimal change disease, and FSGS. Read More

Skinmed 2021 1;19(2):150-154. Epub 2021 Apr 1.

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL;

A 37-year-old man with a history of renal transplantation in 2013 due to focal segmental glomerulosclerosis presented to the emergency room with a 2-week history of fever, chills, anorexia, weight loss, abdominal pain, diarrhea, and a new asymptomatic lesion on the right side of the neck. The patient worked as a truck driver and frequently traveled to Wisconsin; he had not traveled internationally in the past year. He lived with his brother who had a pet cat. Read More

J Clin Med 2021 Apr 24;10(9). Epub 2021 Apr 24.

Department of Medicine, Division of Nephrology, Columbia University Irving Medical Center, New York, NY 10032, USA.

The prevalence of diabetes continues to rise worldwide. In addition to rising rates of diabetic kidney disease, we are also seeing a parallel rise in nondiabetic kidney disease among patients with diabetes. These nondiabetic lesions include focal segmental glomerulosclerosis, IgA nephropathy, membranous nephropathy, and other glomerular diseases. Read More

Int J Mol Sci 2021 Apr 22;22(9). Epub 2021 Apr 22.

Institute of Cytology, Russian Academy of Sciences, 194064 Saint-Petersburg, Russia.

The actin cytoskeleton of podocytes plays a central role in the functioning of the filtration barrier in the kidney. Calcium entry into podocytes via TRPC6 (Transient Receptor Potential Canonical 6) channels leads to actin cytoskeleton rearrangement, thereby affecting the filtration barrier. We hypothesized that there is feedback from the cytoskeleton that modulates the activity of TRPC6 channels. Read More

Cells 2021 Apr 9;10(4). Epub 2021 Apr 9.

Department of Biology and Biochemistry, University of Houston, Houston, TX 77204, USA.

Canonical transient receptor potential 6 (TRPC6) channels have been implicated in familial and acquired forms of focal and segmental glomerulosclerosis (FSGS) in patients and animal models, as well as in renal fibrosis following ureteral obstruction in mice. Aging also evokes declines in renal function owing to effects on almost every renal compartment in humans and rodents. Here, we have examined the role of TRPC6 in driving inflammation and fibrosis during aging in Sprague-Dawley rats. Read More

Cell Tissue Res 2021 Apr 27. Epub 2021 Apr 27.

III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52 , 20246, Hamburg, Germany.

Focal segmental glomerulosclerosis (FSGS) represents a glomerular scar formation downstream of various different mechanisms leading to podocytopathy and podocyte loss. Recently, significant advances were made in understanding genetic factors, podocyte intrinsic mechanisms, and adaptive mechanisms causing FSGS. However, while most cases of nephrotic FSGS are being treated with immunosuppressants, the underlying immune dysregulation, involved immune cells, and soluble factors are only incompletely understood. Read More

J Int Med Res 2021 Apr;49(4):3000605211010644

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Erqi District, 1 Jianshe East Road, Zhengzhou, P. R. China.

Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the mutation. The phenotype can vary from mild to severe on the basis of the patient's age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism. Read More

West Afr J Med 2021 Apr;38(4):307-312

Department of Paediatrics, University of Port Harcourt Teaching Hospital/ University of Port Harcourt, Port Harcourt, Nigeria.

Introduction: Human Immunodeficiency Virus (HIV) infects multiple tissues of the body, including the renal parenchyma, with HIV-associated Nephropathy (HIVAN) being the most common form of the HIV-related renal disease and an important cause of End Stage Renal Disease (ESRD) in HIV infected patients. There is paucity of studies on HIVAN among children with renal diseases, most studies on HIVAN focused on prevalence among HIV patients with vertical transmission being the commonest route. We undertook this study to determine the prevalence and impact of HIVAN among our renal patients and to highlight the new route of HIV transmission observed in these group of patients in Port Harcourt, Southern Nigeria. Read More

Kidney Int 2021 May;99(5):1065-1067

Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Genetics contributes significantly to the development of kidney diseases. In the case of glomerular diseases such as focal segmental glomerulosclerosis, over a dozen genes involved in maintaining and regulating the actin cytoskeleton of podocytes have been implicated. A new study adds the atypical myosin, MYO9A, to that list using a combination of human and mouse genetics, suggesting a link to enhanced RhoA activity. Read More

Nefrologia 2021 Apr 19. Epub 2021 Apr 19.

Nefrología. Hospital Universitario de Vall d́Hebrón, Barcelona, España. Electronic address:

Am J Med Genet A 2021 Apr 21. Epub 2021 Apr 21.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. Read More

Nephrol Dial Transplant 2021 Apr 17. Epub 2021 Apr 17.

J Am Soc Nephrol 2021 Apr 16. Epub 2021 Apr 16.

Division of Nephrology, Department of Pediatrics, Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina

Background: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to be identified.

Methods: Whole-genome sequencing was performed on 320 individuals from 201 families with familial and sporadic NS/FSGS with no pathogenic mutations in any known NS/FSGS genes. Read More

Life Sci 2021 Apr 18;277:119463. Epub 2021 Apr 18.

Stem Cell Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Through the regulation of gene expression, microRNAs (miRNAs) are capable of modulating vital biological processes, such as proliferation, differentiation, and apoptosis. Several mechanisms control the function of miRNAs, including translational inhibition and targeted miRNA degradation. Through utilizing high-throughput screening methods, such as small RNA sequencing and microarray, alterations in miRNA expression of kidneys have recently been observed both in rodent models and humans throughout the development of chronic kidney disease (CKD) and acute kidney injury (AKI). Read More

Eur J Hum Genet 2021 Apr 15. Epub 2021 Apr 15.

Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.

The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. The meeting refined the ACMG criteria for variant assessment for the Alport genes (COL4A3-5). It identified 'mutational hotspots' (PM1) in the collagen IV α5, α3 and α4 chains including position 1 Glycine residues in the Gly-X-Y repeats in the intermediate collagenous domains; and Cysteine residues in the carboxy non-collagenous domain (PP3). Read More

J Am Soc Nephrol 2021 Apr 14. Epub 2021 Apr 14.

Department of Bioethics and Humanities, University of Washington, Seattle, Washington.

Background: variants contribute to the markedly higher incidence of ESKD in Blacks compared with Whites. Genetic testing for these variants in patients with African ancestry who have nephropathy is uncommon, and no specific treatment or management protocol for -associated nephropathy currently exists.

Methods: A multidisciplinary, racially diverse group of 14 experts and patient advocates participated in a Delphi consensus process to establish practical guidance for clinicians caring for patients who may have -associated nephropathy. Read More

BMJ Case Rep 2021 Apr 14;14(4). Epub 2021 Apr 14.

Department of Radiology, Notre Dame des Secours University Hospital Center, Jbeil, Mont-Liban, Lebanon.

Posterior reversible encephalopathy syndrome (PRES) is a rare neurological entity, typically manifested by reversible oedema in the parieto-occipital lobes. It is usually associated with primary hypertension, autoimmune diseases and immunosuppressants. Renal disease is an uncommon cause of PRES. Read More

Kidney Med 2021 Mar-Apr;3(2):257-266. Epub 2021 Feb 10.

Division of Nephrology, University Health Network, Toronto, Canada.

Rationale & Objective: Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease. Accordingly, genetic testing is increasingly used to diagnose kidney diseases, but testing also may reveal rare missense variants that are of uncertain clinical significance. To aid in interpretation, computational prediction (called in silico) programs may be used to predict whether a variant is clinically important. Read More

Clin Kidney J 2021 Apr 30;14(4):1207-1215. Epub 2021 Mar 30.

Institut de Recerca Biomèdica August Pi i Sunyer, Barcelona, Spain.

Background: Data on the activation of the acute inflammatory response and its clinicopathological associations in idiopathic nephrotic syndrome (INS) are scarce and discordant.

Objective: To analyse the associations between the activation of the inflammatory response, the clinicopathological characteristics of disease and the response to treatment with steroids in patients with INS.

Methods: A total of 101 patients with INS due to minimal change disease (MCD; = 44), focal segmental glomerulosclerosis (FSGS; = 33) and membranous nephropathy (MN; = 24) and 50 healthy controls were included. Read More

Am J Transl Res 2021 15;13(3):1233-1244. Epub 2021 Mar 15.

Department of Nephrology, Guang Xing Hospital Affiliated to Zhejiang Chinese Medical University Hangzhou, China.

The epithelial-mesenchymal transition (EMT) is usually considered the central mechanism of podocyte injury that eventually leads to proteinuria. We used an TGF-β1 induced podocyte EMT model and an rat focal segmental glomerulosclerosis (FSGS) model to uncover the mechanism underlying the protective effect of triptolide (TP) on podocytes. We found that TP could reverse the podocyte EMT process and upregulate the expression of TET2 in the TGF-β1-induced podocyte injury model. Read More

Indian J Nephrol 2020 Nov-Dec;30(6):359-369. Epub 2020 Nov 30.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.

Renal transplantation is the preferred form of renal replacement therapy in patients who develop end-stage kidney disease (ESKD). Among the diverse etiologies of ESKD, glomerulonephritis is the third most common cause, behind hypertensive and diabetic kidney disease. Although efforts to prolong graft survival have improved over time with the advent of novel immunosuppression, recurrent glomerulonephritis remains a major threat to renal allograft survival despite concomitant immunosuppression. Read More

Am J Kidney Dis 2021 Apr 1. Epub 2021 Apr 1.

Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Medicine Department-Universitat Autónoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain. Electronic address:

Rationale & Objective: Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). Read More