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Focal and segmental glomerulosclerosis

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https://www.readbyqxmd.com/read/28646406/podocytes-and-the-quest-for-precision-medicines-for-kidney-diseases
#1
REVIEW
Peter Mundel
In this review, I describe a 30-year journey in the quest for precision medicines for patients with kidney diseases. In 1987, when I started my reseach career, most scientists studying glomerular disease biology were focused on mesangial cells. The crucial role of the podocyte in many kidney diseases characterized by proteinuria, including focal segmental glomerulosclerosis (FSGS) and diabetic nephropathy, had not yet been recognized. We were not aware of genetic causes or drivers of kidney diseases nor of molecular markers and cell culture systems for mechanistic studies of podocyte biology...
June 23, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28643120/the-incidence-of-the-nephrotic-syndrome-in-childhood-in-germany
#2
Ingo Franke, Malik Aydin, Corinna Elke Llamas Lopez, Lisa Kurylowicz, Rainer Ganschow, Michael Lentze, Mark Born
BACKGROUND: The incidence of childhood nephrotic syndrome (NS) in Germany is not well known. METHODS: An ESPED-based nationwide collection of epidemiological data of children in 2005 and 2006. RESULT: The mean age of NS at onset was 5.5 ± 3.7 years. The gender ratio of boys to girls was 1.8:1. The average length of stay was 15.5 ± 11.2 days, with younger children remaining significantly longer in hospital. Steroid-resistance was more common in children ≥8 years (p = 0...
June 22, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28642464/serum-c3-and-renal-outcome-in-patients-with-primary-focal-segmental-glomerulosclerosis
#3
Jian Liu, Jingyuan Xie, Xiaoyan Zhang, Jun Tong, Xu Hao, Hong Ren, Weiming Wang, Nan Chen
The role of complement (C) in the pathogenesis or progression of focal segmental glomerulosclerosis (FSGS) is uncertain. The present study assessed the relationship between serum C3, the baseline characteristics, and the progression of FSGS in the cohort and identified the clinical implications of serum C3 levels in patients with FSGS. Compared to the patients with C3 ≥ 85 mg/dL (N = 474), those with C3 < 85 mg/dL (N = 117) presented a higher level of serum creatinine, lower levels of eGFR, hemoglobin, proteinuria, triglyceride, cholesterol, IgA, as well as, severe tubulointerstitial injury (TI)...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28639628/multiple-socioeconomic-deprivation-and-impact-on-survival-in-patients-with-primary-glomerulonephritis
#4
Emily P McQuarrie, Bruce Mackinnon, Samira Bell, Stewart Fleming, Valerie McNeice, Graham Stewart, Jonathan G Fox, Colin C Geddes
Background: The impact of multiple socio-economic deprivation on patient outcomes in primary renal diseases is unknown. We aimed to assess whether risk of death or requiring renal replacement therapy (RRT) in patients with primary glomerulonephritis (GN) was higher in patients living in an area of multiple socio-economic deprivation. Methods: Patients undergoing native renal biopsy between 2000 and 2014 were identified. Baseline demographics, postcode at time of biopsy, follow-up blood pressure, proteinuria and time to death or RRT were recorded...
February 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28632965/frequent-col4-mutations-in-familial-microhematuria-accompanied-by-later-onset-alport-nephropathy-due-to-focal-segmental-glomerulosclerosis
#5
Louiza Papazachariou, Gregory Papagregoriou, Despina Hadjipanagi, Panagiota Demosthenous, Konstantinos Voskarides, Constantina Koutsofti, Kostas Stylianou, Petros Ioannou, Dimitris Xydakis, Ioannis Tzanakis, Antonia Papadaki, Nicolaos Kallivretakis, Nicolaos Nikolakakis, Garyfalia Perysinaki, Daniel P Gale, Athanasios Diamantopoulos, Pavlos Goudas, Dimitris Goumenos, Andreas Soloukides, Ioannis Boletis, Christina Melexopoulou, Eleni Georgaki, Elena Frysira, Fifi Komianou, Dimitrios Grekas, Christos Paliouras, Polichronis Alivanis, George Vergoulas, Alkis Pierides, Eugenios Daphnis, Constantinos Deltas
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using Next Generation Sequencing (NGS) for five genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, nine of them novel...
June 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28630634/moxibustion-alleviates-injury-in-a-rat-focal-segmental-glomerulosclerosis-model
#6
Yi Li, Yuxia Sun, Chunling Zhang, Ke Wang, Peicheng Shen, Di Huang, Wen Ma, Jin Zhang, Lin Li, Liqun He
OBJECTIVES: To evaluate the therapeutic effects of moxibustion at Shenshu (BL-23) and Geshu (BL-17) acupoints in a focal segmental glomerulosclerosis (FSGS) model in rats. METHODS: A FSGS rat model was established by single nephrectomy and repeated injection of doxorubicin. The FSGS rats were randomly divided into the model group, losartan (positive control) group, Shenshu moxibustion group, and Geshu moxibustion group. Molecular indicators of kidney function and renal pathological changes were monitored...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28626447/autoimmune-thyroiditis-and-glomerulopathies
#7
REVIEW
Domenico Santoro, Carmela Vadalà, Rossella Siligato, Michele Buemi, Salvatore Benvenga
Autoimmune thyroiditis (AIT) is generally associated with hypothyroidism. It affects ~2% of the female population and 0.2% of the male population. The evidence of thyroid function- and thyroid autoantibody-unrelated microproteinuria in almost half of patients with AIT and sometimes heavy proteinuria as in the nephrotic syndrome point to a link of AIT with renal disease. The most common renal diseases observed in AIT are membranous nephropathy, membranoproliferative glomerulonephritis, minimal change disease, IgA nephropathy, focal segmental glomerulosclerosis, antineutrophil cytoplasmic autoantibody (ANCA) vasculitis, and amyloidosis...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28626180/pregnancy-is-a-risk-factor-for-secondary-focal-segmental-glomerulosclerosis-in-women-with-a-history-of-very-low-birth-weight
#8
Mari Tanaka, Sachio Iwanari, Yasushi Tsujimoto, Keisuke Taniguchi, Koichiro Hagihara, Daiki Fumihara, Syo Miki, Saeko Shimoda, Masaki Ikeda, Hiroya Takeoka
Low birth weight (LBW) has been known to increase the susceptibility to renal injury in adulthood. A 26-year-old woman developed proteinuria in early pregnancy; she had been born with very LBW. The clinical course was progressive, and an emergency Caesarean section was performed at 36 weeks due to acute kidney injury. A renal biopsy provided a diagnosis of post-adaptive focal segmental glomerulosclerosis. Increased demand for glomerular filtration during early pregnancy appeared to have initiated the renal injury...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28615961/the-role-of-novel-biomarkers-in-childhood-idiopathic-nephrotic-syndrome-a-narrative-review-of-published-evidence
#9
REVIEW
Samuel N Uwaezuoke
Two histological subtypes of idiopathic nephrotic syndrome are commonly recognized in children, namely minimal change nephropathy and focal segmental glomerulosclerosis. Children with minimal change nephropathy (the majority of whom are steroid-sensitive) and focal segmental glomerulosclerosis (the majority of whom are steroid-resistant) require early identification in order to ensure appropriate therapeutic intervention and better outcome. Although renal biopsy and histology remain the ideal diagnostic steps to identify these histological subtypes, reports indicate that serum and urinary biomarkers are now being utilized in the investigation of childhood idiopathic nephrotic syndrome...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28615647/differential-synchrotron-x-ray-imaging-markers-based-on-the-renal-microvasculature-for-tubulointerstitial-lesions-and-glomerulopathy
#10
Yu-Chuan Lin, Yeukuang Hwu, Guo-Shu Huang, Michael Hsiao, Tsung-Tse Lee, Shun-Min Yang, Ting-Kuo Lee, Nan-Yow Chen, Sung-Sen Yang, Ann Chen, Shuk-Man Ka
High resolution synchrotron microtomography capable of revealing microvessels in three dimensional (3D) establishes distinct imaging markers of mouse kidney disease strongly associated to renal tubulointerstitial (TI) lesions and glomerulopathy. Two complementary mouse models of chronic kidney disease (CKD), unilateral ureteral obstruction (UUO) and focal segmental glomerulosclerosis (FSGS), were used and five candidates of unique 3D imaging markers were identified. Our characterization to differentially reflect the altered microvasculature of renal TI lesions and/or glomerulopathy demonstrated these image features can be used to differentiate the disease status and the possible cause therefore qualified as image markers...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28614766/simple-obesity-and-renal-function
#11
D Sikorska, M Grzymislawska, M Roszak, P Gulbicka, K Korybalska, J Witowski
Increasing evidence accumulate to suggest that obesity increases the risk of chronic kidney disease independently of dyslipidemia, diabetes, and hypertension. This so-called obesity-related glomerulopathy is characterized at early stages by glomerular hypertrophy with or without secondary focal segmental glomerulosclerosis. Since, however, kidney biopsies are usually not performed at this phase, an early diagnosis of the disease is often difficult. Here, we review new developments in the pathophysiology of obesity-associated kidney dysfunction and discuss the potential of appropriate monitoring of glomerular filtration rate and albuminuria for early detection of the disease...
April 2017: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28604958/-study-of-a-family-affected-with-focal-segmental-glomerulosclerosis-due-to-mutation-of-col4a5-gene
#12
Jing Zhang, Jing Yang, Zhangxue Hu
OBJECTIVE: To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS). METHODS: Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing. RESULTS: Next-generation sequencing detected a missense mutation (c...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28601198/recurrent-glomerulonephritis-after-kidney-transplantation-risk-factors-and-allograft-outcomes
#13
Penelope J Allen, Steve J Chadban, Jonathan C Craig, Wai H Lim, Richard D M Allen, Philip A Clayton, Armando Teixeira-Pinto, Germaine Wong
Recurrent glomerulonephritis after kidney transplantation is a feared complication because it is unpredictable and may have a negative impact on graft outcomes. To better understand this we collected data from the Australia and New Zealand Dialysis and Transplant (ANZDATA) Registry accumulated over 30 years. The incidence, risk factors, and outcomes of recurrent glomerulonephritis in transplant recipients were determined using adjusted Cox proportional hazard and competing risk modeling. A total of 6,597 recipients with biopsy-proven glomerulonephritis as the primary cause of end-stage kidney disease were followed for 51,871 person-years (median duration 7...
June 7, 2017: Kidney International
https://www.readbyqxmd.com/read/28580132/case-report-making-a-diagnosis-of-familial-renal-disease-clinical-and-patient-perspectives
#14
Zahra Iqbal, John A Sayer
BACKGROUND: A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. METHODS: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. RESULTS: Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype...
2017: F1000Research
https://www.readbyqxmd.com/read/28578979/hiv-associated-kidney-diseases-clarifying-concordance-between-renal-failure-in-hiv-infection-and-histopathologic-manifestations-at-kidney-biopsy
#15
REVIEW
Carla L Ellis
Patients with HIV infection have a wide spectrum of renal diseases. Some are known to be the direct effect of the viral infection while others are renal diseases that also occur in uninfected populations. HIV associated nephropathy (HIVAN) is considered to be a subtype of primary focal and segmental glomerulosclerosis that is distinct in HIV infected patients. It is more frequent in the African-American population and associated with mutations of the apolipoprotein L1 (APOL1) gene. HIV associated immune complex kidney disease (HIVICD) encompasses a spectrum of HIV associated renal diseases characterized by the presence of immune complex deposition within glomeruli...
May 5, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28578625/glomerular-lipidosis-in-dogs
#16
Rebecca A Kohnken, Hayley Amerman, Cathy A Brown, Eva Furrow, George E Lees, Rachel E Cianciolo
Glomerular lipidosis (GL) is characterized by dilated glomerular capillary loops containing lipid-laden cells (foam cells). Previously, GL was considered to be an incidental finding because affected dogs were typically not azotemic. However, the International Renal Interest Society staging system for canine chronic kidney disease has increased the awareness of other clinical parameters (eg, proteinuria and hypertension) that should be included in the assessment of renal function. As such, the aim of this study was to determine clinical abnormalities and concurrent renal lesions in dogs with GL...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28577739/mitochondrial-cytopathies-and-the-kidney
#17
REVIEW
Francesco Emma, Leonardo Salviati
Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized...
April 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28575888/renal-involvement-in-2-siblings-with-cockayne-syndrome
#18
Amel Ben Chehida, Narjess Ghali, Rim Ben Abdelaziz, Fatma Ben Moussa, Neji Tebib
Renal involvement in Cockayne syndrome is rare and its pathogenesis is yet unknown. We report herein 2 cases (siblings) with Cockayne syndrome type A confirmed by biochemical and molecular assays. The first case was a 13-year-old girl who presented with nephritic syndrome and a rapidly progressive kidney failure. Her younger sister, 7 years old, exhibited hypertension, hyperfiltration, and microalbuminuria. She had hyperreninemia and hyperaldosteronemia without kidney failure or renal arterial stenosis. Renal biopsy, performed the older sister, revealed cystic focal segmental glomerulosclerosis, arteriosclerosis, tubulointerstitial fibrosis, and tubular atrophy...
May 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28575887/glomerulonephritis-as-a-type-of-kidney-injury-in-multiple-myeloma-a-report-of-2-cases
#19
Mohsen Vakili Sadeghi, Roghaeh Akbari
Renal involvement in multiple myeloma has multiple etiologies. Glomerulonephritis rarely occurs in multiple myeloma and numerous case reports in the literature explain their correlation. We report 2 cases of glomerulonephritis, one membranous glomerulonephritis and the other focal segmental glomerulosclerosis, in which multiple myeloma was confirmed after several months in the first case and synchronous with the second. Glomerulonephritis can be an uncommon, but not rare, cause of proteinuria in multiple myeloma...
May 2017: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/28573371/frequency-of-familial-mediterranean-fever-mefv-gene-mutations-in-patients-with-biopsy-proven-primary-glomerulonephritis
#20
Can Huzmeli, Ferhan Candan, Gokhan Bagci, Demet Alaygut, Ali Yilmaz, Asim Gedikli, Binnur Bagci, Meryem Timucin, Ilhan Sezgin, Mansur Kayatas
Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male...
June 1, 2017: Clinical Rheumatology
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