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Nephrotic syndrom

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https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#1
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29243077/pulmonary-embolus-as-cause-of-death-in-an-adolescent-demonstration-on-postmortem-ct
#2
Mary P Harty, H Theodore Harcke, Sharon W Gould, Adrienne Sukula-Perlman
Computed tomography (CT) is widely accepted in adult forensic death investigations (determination of cause and manner of death) but is only beginning to play a larger role in the cause of death determination in infants and children. We present a case of an adolescent with nephrotic syndrome who sustained cardiac arrest and died in the emergency department. A postmortem CT was requested by the state Office of the Medical Examiner as part of the medicolegal death investigation. Postmortem CT showed a saddle pulmonary embolus that was confirmed on conventional autopsy, demonstrating a natural manner of death...
December 14, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29239128/efficacy-of-anakinra-in-a-patient-with-systemic-amyloidosis-presented-with-amyloidoma
#3
Hulya Nalcacioglu, Ozan Ozkaya, Gurkan Genc, Suat Ayyildiz, Mehmet Kefeli, Murat Elli, Oguz Aydin, Meltem Ceyhan Bilgici
Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. A girl aged 16 years was referred to our hospital with a pre-diagnosis of a retroperitoneal mass documented with abdominal ultrasonography and tomography...
December 13, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29238427/hiv-associated-nephropathy-in-africa-pathology-clinical-presentation-and-strategy-for-prevention
#4
REVIEW
Nazik Elmalaika Husain, Mohamed H Ahmed, Ahmed O Almobarak, Sufian K Noor, Wadie M Elmadhoun, Heitham Awadalla, Clare L Woodward, Dushyant Mital
The human immunodeficiency virus (HIV) infection can lead to progressive decline in renal function known as HIV-associated nephropathy (HIVAN). Importantly, individuals of African ancestry are more at risk of developing HIVAN than their European descent counterparts. An in-depth search on Google Scholar, Medline and PubMed was conducted using the terms "HIVAN" and "pathology and clinical presentation", in addition to "prevalence and risk factors for HIVAN", with special emphasis on African countries for any articles published between 1990 and 2017...
January 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29236656/secondary-syphilis-associated-with-membranous-nephropathy-and-acute-hepatitis-in-a-patient-with-hiv-a-case-report
#5
Zhou Zhang, Aviv Hever, Nitin Bhasin, Dean A Kujubu
INTRODUCTION: We present a case of membranous nephropathy associated with a secondary syphilis infection in a patient with HIV. CASE PRESENTATION: A 37-year-old white man with HIV who was receiving highly active antiretroviral therapy presented to the Emergency Department with 6 weeks of rectal pain. He had a CD3-CD4 count of 656 cells/mm3 and an undetectable viral load. On admission, he was found to have an anal ulcer, a serum creatinine of 1.4 mg/dL (baseline 0...
2017: Permanente Journal
https://www.readbyqxmd.com/read/29235984/deaths-leading-causes-for-2015
#6
Melonie Heron
Objectives-This report presents final 2015 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2015," the National Center for Health Statistics' annual report of final mortality statistics. Methods-Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2015. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes...
November 2017: National Vital Statistics Reports
https://www.readbyqxmd.com/read/29234164/dyslipidaemia-in-nephrotic-syndrome-mechanisms-and-treatment
#7
Shipra Agrawal, Joshua J Zaritsky, Alessia Fornoni, William E Smoyer
This corrects the article DOI: 10.1038/nrneph.2017.155.
December 13, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#8
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29229167/glomerular-diseases-in-children
#9
REVIEW
Scott E Wenderfer, Joseph P Gaut
Unique challenges exist in the diagnosis and treatment of glomerular diseases with their onset during childhood. Mounting evidence supports the notion that earlier onset cases occur due to larger numbers of genetic risk alleles. Nearly all causes of adult-onset glomerulonephritis, nephrotic syndrome, and thrombotic microangiopathy have also been described in children, although the prevalence of specific causes differs. Postinfectious glomerulonephritis, Henoch-Schönlein purpura nephritis, and minimal change disease remain the most common causes of glomerular disease in younger children in the United States and can be diagnosed clinically without need for biopsy...
November 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/29219816/nephrotic-syndrome-due-to-lupus-like-glomerulonephritis-in-an-hiv-positive-patient
#10
J S Wiegersma, C F M Franssen, A Diepstra
Lupus nephritis, a well-known complication in systemic lupus erythematosus, is characterised by a proliferative glomerulonephritis or membranous nephropathy along with a full-house immunofluorescence pattern on renal biopsy. There are very few exceptions in which similar histopathological findings are present, but case reports show that an increasing number of HIV-positive patients (mostly black Africans, but also white patients) have HIV-immune complex disease (HIVICK), which can mimic lupus nephritis. Lupus-like HIVICK is treated differently than 'true' lupus nephritis, so distinction is warranted...
November 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/29218062/preliminary-study-regarding-the-association-between-tumor-necrosis-factor-alpha-gene-polymorphisms-and-childhood-idiopathic-nephrotic-syndrome-in-romanian-pediatric-patients
#11
Ioana Tieranu, Monica I Dutescu, Constantin Bara, Cristian G Tieranu, Mihaela Balgradean, Olivia M Popa
Background: Childhood idiopathic nephrotic syndrome (INS) is one of the most common glomerular diseases, characterized by heavy proteinuria, hypoalbuminemia, dyslipidemia and generalized edema. Although some progresses were made regarding the pathogenesis of this disease, there are a lot of questions still left unanswered. Some of them involve the implications of several cytokines, including tumor necrosis factor alpha (TNF-alpha), in the development and clinical course of INS. Objective: Our objective was to analyze the role of two single nucleotide polymorphisms of TNF-alpha gene in the development of pediatric INS and their implication in the response to corticosteroid therapy...
September 2017: Mædica
https://www.readbyqxmd.com/read/29217878/a-randomized-controlled-trial-of-intravenous-versus-oral-cyclophosphamide-in-steroid-resistant-nephrotic-syndrome-in-children
#12
K M Shah, A J Ohri, U S Ali
This is a randomized, parallel group, active-controlled trial to compare the efficacy of intravenous cyclophosphamide (IVCP) with oral cyclophosphamide (OCP) in patients with steroid-resistant nephrotic syndrome (SRNS) in children. Fifty consecutive children with idiopathic SRNS were biopsied and then randomized to receive either OCP at a dose of 2 mg/kg/day for 12 weeks or IVCP at a dose of 500 mg/m2/month for 6 months. Both groups received tapering doses of oral steroids. The response was evaluated in terms of induction of complete remission (CR) or partial remission (PR), time to remit, and side effects...
November 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/29217769/structural-insights-into-ankyrin-repeat-mediated-recognition-of-the-kinesin-motor-protein-kif21a-by-kank1-a-scaffold-protein-in-focal-adhesion
#13
Wenfei Pan, Kang Sun, Kun Tang, Qingpin Xiao, Chenxue Ma, Cong Yu, Zhiyi Wei
Kidney ankyrin repeat-containing proteins (KANK1/2/3/4) belong to a family of scaffold proteins, playing critical roles in cytoskeleton organization, cell polarity and migration. Mutations in KANK proteins are implicated in cancers and genetic diseases, such as nephrotic syndrome. KANK proteins can bind various target proteins through different protein regions, including a highly conserved ankyrin repeat domain (ANKRD). However, the molecular basis for target recognition by the ANKRD remains elusive. In this study, we solved a high-resolution crystal structure of the ANKRD of KANK1 in complex with a short sequence of the motor protein kinesin family member 21A (KIF21A), revealing that the highly specific target-binding mode of the ANKRD involves combinatorial use of two interfaces...
December 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29217372/acute-peritoneal-dialysis-in-neonatal-intensive-care-unit-an-8-year-experience-of-a-referral-hospital
#14
Aslihan Kara, Metin Kaya Gurgoze, Mustafa Aydin, Erdal Taskin, Unal Bakal, Aysen Orman
BACKGROUND: The aim of present study was to evaluate the indications, complications and outcomes of acute peritoneal dialysis (APD) in neonates at a referral university hospital during the previous 8 years. METHODS: This retrospective analysis included a total of 52 newborn infants who underwent APD in a neonatal intensive care unit between January 2008 and March 2016. Demographic, clinical, laboratory and microbiological data were extracted from patients' medical files...
November 16, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29214407/clinical-features-and-pathogenesis-of-membranoproliferative-glomerulonephritis-a-nationwide-analysis-of-the-japan-renal-biopsy-registry-from-2007-to-2015
#15
Naoki Nakagawa, Naoyuki Hasebe, Motoshi Hattori, Michio Nagata, Hitoshi Yokoyama, Hiroshi Sato, Hitoshi Sugiyama, Akira Shimizu, Yoshitaka Isaka, Shoichi Maruyama, Ichiei Narita
BACKGROUND: The incidence and age distribution of membranoproliferative glomerulonephritis (MPGN) vary throughout the world by race and ethnicity. We sought to evaluate the clinical features, pathogenesis, and age distribution of MPGN among a large nationwide data from the Japan Renal Biopsy Registry (J-RBR). METHODS: A cross-sectional survey of 593 patients with MPGN (types I and III) registered in the J-RBR between 2007 and 2015 was conducted. Clinical parameters, and laboratory findings at diagnosis were compared between children (< 20 years), adults (20-64 years), and elderly patients (≥ 65 years)...
December 6, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29212948/elevated-urinary-creld2-is-associated-with-endoplasmic-reticulum-stress-mediated-kidney-disease
#16
Yeawon Kim, Sun-Ji Park, Scott R Manson, Carlos Af Molina, Kendrah Kidd, Heather Thiessen-Philbrook, Rebecca J Perry, Helen Liapis, Stanislav Kmoch, Chirag R Parikh, Anthony J Bleyer, Ying Maggie Chen
ER stress has emerged as a signaling platform underlying the pathogenesis of various kidney diseases. Thus, there is an urgent need to develop ER stress biomarkers in the incipient stages of ER stress-mediated kidney disease, when a kidney biopsy is not yet clinically indicated, for early therapeutic intervention. Cysteine-rich with EGF-like domains 2 (CRELD2) is a newly identified protein that is induced and secreted under ER stress. For the first time to our knowledge, we demonstrate that CRELD2 can serve as a sensitive urinary biomarker for detecting ER stress in podocytes or renal tubular cells in murine models of podocyte ER stress-induced nephrotic syndrome and tunicamycin- or ischemia-reperfusion-induced acute kidney injury (AKI), respectively...
December 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/29212162/rituximab-treatment-in-adults-with-refractory-minimal-change-disease-or-focal-segmental-glomerulosclerosis
#17
Hong Ren, Li Lin, Pingyan Shen, Xiao Li, Jingyuan Xie, Xiaoxia Pan, Wen Zhang, Nan Chen
Rituximab (RTX) may benefit patients with glomerular disease who suffer from focal segmental glomerular sclerosis (FSGS) or minimal change disease (MCD). Here, we have described our experience treating 6 FSGS and 9 MCD patients with steroid-dependent/refractory nephrotic syndrome (NS) with RTX. Patients received RTX (375 mg/m2) intravenously on days 1, 8, 23, and 29. During a median follow-up of 8 months (range, 3-36 months) after RTX administration, all patients achieved complete or partial remission. Relapses decreased by approximately 30-fold compared with the year preceding RTX treatment, and an 89...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29207898/nr3c1-gene-polymorphisms-are-associated-with-steroid-resistance-in-patients-with-primary-nephrotic-syndrome
#18
Jie Liu, Zan Wan, Qianqian Song, Zhi Li, Yijing He, Yongjun Tang, Wanying Xie, Yanyun Xie, Jun Zhang
AIM: The aim of this study was to investigate the role of SNPs of genes involved in the glucocorticoid pathway in the development of steroid resistance in patients with primary nephrotic syndrome. METHODS: Sequenom MassARRAY method was used to sequence 25 SNP genotypes in 154 patients. The frequency distribution of the genotypes was compared between patients with steroid-sensitive nephrotic syndrome and those with steroid-resistant nephrotic syndrome. RESULTS: NR3C1 rs6196 G allele carriers had a decreased risk of steroid resistance compared with that of the A allele carriers...
December 6, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/29207799/change-in-bone-mineral-density-and-role-of-vitamin-d-and-calcium-supplementation-during-treatment-of-first-episode-nephrotic-syndrome
#19
Virendra Kumar Yadav, Shobha Sharma, Pradeep Kumar Debata, Seema Patel, Bhaskar C Kabi, Kailash Chandra Aggrawal
Introduction: Nephrotic Syndrome (NS) is one of the common illnesses in childhood. Oral glucocorticoids are mainstay of treatment, which are known to cause various short term and long term adverse effects including osteoporosis. Children with first episode and infrequent relapsing NS are not prescribed Calcium (Ca) and Vitamin D (VitD) supplements routinely. Aim: To observe change in Bone Mineral Density (BMD) in children during first episode of NS and role of VitD and Ca supplementation during the treatment of first episode of NS...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29204099/tuberculosis-infection-in-children-with-proteinuria-nephrotic-syndrome
#20
Hanna Szymanik-Grzelak, Elżbieta Kuźma-Mroczkowska, Piotr Skrzypczyk, Teresa Bielecka, Iwona Kotula, Małgorzata Pańczyk-Tomaszewska
Children with nephrotic syndrome (NS) are at greater risk of infections than the general population, due to immunodeficiency in the course of the disease and the treatment. In this study we present 4 children (2 girls, 2 boys), mean age 7.6 ±5.1 years, with NS/proteinuria and latent tuberculosis in 3 children and lymph node tuberculosis in 1 child. The reasons for testing these children for tuberculosis (TB) were the evaluation of the epidemiological status before treatment with corticosteroids (GCS), leukopenia and the relapse of NS, and non-nephrotic proteinuria...
2017: Central-European Journal of Immunology
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