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renal tubulopathies

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https://www.readbyqxmd.com/read/28196897/role-of-hsp60-hspd1-in-diabetes-induced-renal-tubular-dysfunction-regulation-of-intracellular-protein-aggregation-atp-production-and-oxidative-stress
#1
Siripat Aluksanasuwan, Kanyarat Sueksakit, Kedsarin Fong-Ngern, Visith Thongboonkerd
Because underlying mechanisms of diabetic nephropathy/tubulopathy remained poorly understood, we aimed to define a key protein involving in hyperglycemia-induced renal tubular dysfunction. All altered renal proteins identified from previous large-scale proteome studies were subjected to global protein network analysis, which revealed heat shock protein 60 (HSP60, also known as HSPD1) as the central node of protein-protein interactions. Functional validation was performed using small interfering RNA (siRNA) to knock down HSP60 (siHSP60)...
February 14, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#2
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
February 10, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28130143/treatment-limiting-renal-tubulopathy-in-patients-treated-with-tenofovir-disoproxil-fumarate
#3
L Hamzah, S Jose, J W Booth, A Hegazi, M Rayment, A Bailey, D I Williams, B M Hendry, P Hay, R Jones, J B Levy, D R Chadwick, M Johnson, C A Sabin, F A Post
OBJECTIVES: Tenofovir disoproxil fumarate (TDF) is widely used in the treatment or prevention of HIV and hepatitis B infection. TDF may cause renal tubulopathy in a small proportion of recipients. We aimed to study the risk factors for developing severe renal tubulopathy. METHODS: We conducted an observational cohort study with retrospective identification of cases of treatment-limiting tubulopathy during TDF exposure. We used multivariate Poisson regression analysis to identify risk factors for tubulopathy, and mixed effects models to analyse adjusted estimated glomerular filtration rate (eGFR) slopes...
January 25, 2017: Journal of Infection
https://www.readbyqxmd.com/read/28122570/the-renal-tubular-damage-marker-urinary-n-acetyl-%C3%AE-d-glucosaminidase-may-be-more-closely-associated-with-early-detection-of-atherosclerosis-than-the-glomerular-damage-marker-albuminuria-in-patients-with-type-2-diabetes
#4
So Ra Kim, Yong-Ho Lee, Sang-Guk Lee, Eun Seok Kang, Bong-Soo Cha, Byung-Wan Lee
BACKGROUND: To determine the association between urinary N-acetyl-β-D-glucosaminidase (NAG), a marker of renal tubulopathy, and carotid intima-media thickness (IMT) and plaques in patients with type 2 diabetes mellitus (T2D) and to compare the predictive value of NAG versus albuminuria, a marker of renal glomerulopathy. METHODS: A total of 343 participants were enrolled in this retrospective cross-sectional study. We recruited participants with T2D who were tested for blood glucose parameters, urinary NAG, and urinary albumin-to-creatinine ratio (ACR) and had been checked for carotid ultrasonography...
January 26, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28101447/functional-coupling-of-v-atpase-and-clc-5
#5
REVIEW
Nobuhiko Satoh, Masashi Suzuki, Motonobu Nakamura, Atsushi Suzuki, Shoko Horita, George Seki, Kyoji Moriya
Dent's disease is an X-linked renal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria and progressive renal failure. Disease aetiology is associated with mutations in the CLCN5 gene coding for the electrogenic 2Cl(-)/H(+) antiporter chloride channel 5 (CLC-5), which is expressed in the apical endosomes of renal proximal tubules with the vacuolar type H(+)-ATPase (V-ATPase). Initially identified as a member of the CLC family of Cl(-) channels, CLC-5 was presumed to provide Cl(-) shunt into the endosomal lumen to dissipate H(+) accumulation by V-ATPase, thereby facilitating efficient endosomal acidification...
January 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#6
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28008953/glycosuria-and-renal-outcomes-in-patients-with-nondiabetic-advanced-chronic-kidney-disease
#7
Chi-Chih Hung, Hugo You-Hsien Lin, Jia-Jung Lee, Lee Moay Lim, Yi-Wen Chiu, Heng-Pin Chiang, Shang-Jyh Hwang, Hung-Chun Chen
Sodium glucose cotransporter 2 inhibitors have shown a potential for renoprotection beyond blood glucose lowering. Glycosuria in nondiabetic patients with chronic kidney disease (CKD) is sometimes noted. Whether glycosuria in CKD implies a channelopathy or proximal tubulopathy is not known. The consequence of glycosuria in CKD is also not studied. We performed a cross-sectional study for the association between glycosuria and urine electrolyte excretion in 208 nondiabetic patients. Fractional excretion (FE) of glucose >4% was 3...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28007512/-the-complex-phenotype-of-arc-syndrome-a-new-case
#8
A Giraud, F Ramond, C Cremillieux, R Touraine, H Patural, J-L Stephan
ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2A>G) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27965825/aminoaciduria-in-the-prediction-of-ifosfamide-induced-tubulopathy-after-childhood-cancer-a-feasibility-study
#9
Jessica E Morgan, Karl McKeever, Kay S Tyerman, Michael Henderson, Susan Picton, Robert S Phillips
BACKGROUND: Ifosfamide, an alkylating agent used widely in the treatment of childhood malignancy, can cause many side effects including a proximal tubulopathy. Studies suggest that aminoaciduria is seen most commonly of all the biochemical abnormalities of ifosfamide-induced tubulopathy. A recent systematic review has found a paucity of data regarding the value of early markers indicating clinically significant tubulopathy. We undertook a pilot study to determine the feasibility of examining whether patients can be risk-stratified on the basis of aminoaciduria for the development of future significant ifosfamide-induced tubulopathy, to allow the evolution of appropriate follow-up strategies...
2016: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/27957423/crystalline-podocytopathy-and-tubulopathy-without-overt-glomerular-proteinuria-in-a-patient-with-multiple-myeloma
#10
Eun Jeong Lee, Su Yeon Lee, So Young Park, Yonjin Kim, Jae Shin Choi, Mi Jeoung Kim, Ji Hyeon Park, Jung Eun Lee, Ghee Young Kwon, Yoon-Goo Kim
Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain-secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal tubulopathy, which presents clinically as Fanconi syndrome. Podocytes are rarely affected, and the crystalline inclusions within podocytes are typically precipitated, yielding significant glomerular proteinuria. Here we report a case of extensive crystalline inclusions primarily within podocytes and proximal tubules that presented only with Fanconi syndrome and renal insufficiency...
December 2016: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#11
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27790796/functional-characterization-and-rescue-of-a-deep-intronic-mutation-in-ocrl-gene-responsible-for-lowe-syndrome
#12
John Rendu, Rodrick Montjean, Charles Coutton, Mohnish Suri, Gaetan Chicanne, Anne Petiot, Julie Brocard, Didier Grunwald, France Pietri Rouxel, Bernard Payrastre, Joel Lunardi, Olivier Dorseuil, Isabelle Marty, Julien Fauré
Dent-2 disease and Lowe syndrome are two pathologies caused by mutations in inositol polyphosphate 5-phosphatase OCRL gene. Both conditions share proximal tubulopathy evolving to chronic kidney failure. Lowe syndrome is in addition defined by a bilateral congenital cataract, intellectual disability, and hypotonia. The pathology evolves in two decades to a severe condition with renal complications and a fatal issue. We describe here a proof of principle for a targeted gene therapy on a mutation of the OCRL gene that is associated with Lowe syndrome...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27784896/cryptic-exon-activation-in-slc12a3-in-gitelman-syndrome
#13
Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky, Kazumoto Iijima
Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. GS clinical symptoms range from mild weakness to muscular cramps, paralysis or even sudden death as a result of cardiac arrhythmia. GS is caused by loss-of-function mutations in the solute carrier family 12 member 3 (SLC12A3) gene, but molecular mechanisms underlying such a wide range of symptoms are poorly understood. Here we report cryptic exon activation in SLC12A3 intron 12 in a clinically asymptomatic GS, resulting from an intronic mutation c...
October 27, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27777548/crush-syndrome-chez-l%C3%A2-adulte-et-problematique-de-sa-prise-en-charge-a-la-phase-aigu%C3%A3
#14
P F Hemou, H D Sama, P Tchétikè, T Potkar
Le crush syndrome se définit comme l'ensemble des manifestations locales et générales secondaires à une rhabdomyolyse traumatique avec ischémie de grosses masses musculaires par compression prolongée, à l'origine d'un syndrome compartimental ou syndrome des loges. Rarement isolé, il peut passer inaperçu dans les 24 à 48 premières heures de la phase aiguë d'un traumatisme sévère quand les principales préoccupations médicales sont la sauvegarde des fonctions vitales. La souffrance musculaire liée au syndrome compartimental entraîne la libération de myoglobine dans la circulation générale...
December 31, 2015: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/27771652/fanconi-bickel-syndrome-with-hypercalciuria-due-to-glut-2-mutation
#15
Ruchi Shah, Sudha Rao, Ruchi Parikh, Tahir Sophia, Hussain Khalid
BACKGROUND: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare. CASE CHARACTERISTICS: 4.5-years-old boy presented with growth failure, hepatomegaly, rickets, fasting hypoglycemia with postprandial hyperglycemia, fanconi syndrome and hypercalciuria. OUTCOME: A rare mutation in GLUT-2 gene suggestive of Fanconi Bickel Syndrome. MESSAGE: Fanconi Bickel Syndrome may present with hypercalciuria with proximal renal tubulopathy along with fasting hypoglycemia and postprandial hyperglycemia...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27757584/proteinuria-in-dent-disease-a-review-of-the-literature
#16
Youri van Berkel, Michael Ludwig, Joanna A E van Wijk, Arend Bökenkamp
BACKGROUND: Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease. Therefore, we aimed to analyze protein excretion in patients with documented CLCN5 or OCRL mutations in a systematic literature review. DESIGN: PubMed and Embase were searched for cases with documented CLCN5 or OCRL mutations and (semi-)quantitative data on protein excretion...
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27708066/long-term-renal-outcome-in-children-with-ocrl-mutations-retrospective-analysis-of-a-large-international-cohort
#17
Marcin Zaniew, Arend Bökenkamp, Marcin Kołbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepańska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemień, Dariusz Runowski, Grzegorz Siteń, Iga Załuska-Leśniewska, Patrizia Fonduli, Franca Zurrida, Fabio Paglialonga, Zoran Gucev, Dusan Paripovic, Rina Rus, Valerie Said-Conti, Lisa Sartz, Woo Yeong Chung, Se Jin Park, Jung Won Lee, Yong Hoon Park, Yo Han Ahn, Przemysław Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization...
October 5, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27662203/amyloid-cast-tubulopathy-a-unique-form-of-immunoglobulin-induced-renal-disease
#18
I-A Iliuta, A P Garneau, E Latulippe, P Isenring
No abstract text is available yet for this article.
September 23, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27648267/fetal-urine-biochemistry-in-antenatal-bartter-syndrome-a-case-report
#19
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27526707/paraprotein-related-kidney-disease-kidney-injury-from-paraproteins-what-determines-the-site-of-injury
#20
Mona Doshi, Amit Lahoti, Farhad R Danesh, Vecihi Batuman, Paul W Sanders
Disorders of plasma and B cells leading to paraproteinemias are associated with a variety of renal diseases. Understanding the mechanisms of injury and associated nephropathies provides a framework that aids clinicians in prompt diagnosis and appropriate adjunctive treatment of these disorders. Glomerular diseases that may be associated with paraproteinemias include amyloid deposition, monoclonal Ig deposition disease, proliferative GN with monoclonal Ig deposits, C3 glomerulopathy caused by alterations in the complement pathway, immunotactoid glomerulopathy, fibrillary GN, and cryoglobulinemia...
December 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
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