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https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#1
Shatha Murad, Yuval Eisenberg
OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder of oxalate overproduction. It is associated with urolithiasis and nephrocalcinosis which progress to ESRD and systemic oxalosis. As oxalate deposits in tissues, non-parathyroid hormone (nonPTH) mediated hypercalcemia, oxalate osteopathy, primary hypothyroidism and primary hypogonadism develop. In this review, we will present a case of PH1 and provide an overview of this clinical entity and its endocrine manifestations...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29077646/high-incidence-of-proteinuria-in-children-with-chronic-intestinal-failure-under-long-term-parenteral-nutrition
#2
Heiko Billing, Anna Traunspurger, Ekkehard Sturm, Andreas Busch
Long-term home parenteral nutrition (LTPN) in children with chronic intestinal failure (CIF) is associated with renal complications such as fluid and electrolyte imbalances, nephrocalcinosis, nephrolithiasis and chronic kidney disease (CKD). The etiology of CIF-associated nephropathy is multifactorial. The aim of this study was to evaluate renal involvement under LTPN. In this study 50 patients with CIF, median age 4.2 years (1.4 - 9.3, 23 female) were included. Kidney involvement was a frequent finding in this study...
October 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29029121/clinical-heterogeneity-and-phenotypic-expansion-of-napi-iia-associated-disease
#3
Korcan Demir, Melek Yildiz, Hilla Bahat, Michael Goldman, Nisreen Hassan, Shay Tzur, Ayala Ofir, Daniella Magen
Context: NaPi-IIa, encoded by SLC34A1 is a key phosphate transporter in the mammalian proximal tubule, and plays a cardinal role in renal phosphate handling. NaPi-IIa impairment has been linked to various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and most recently, with idiopathic infantile hypercalcemia and nephrocalcinosis. Objectives: We studied the molecular basis of idiopathic infantile hypercalcemia with partial proximal tubulopathy in two apparently unrelated patients of Israeli and Turkish descent...
September 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28984812/factors-associated-with-diffusely-increased-renal-uptake-of-tc-99m-diphosphono-propanedicarboxylic-acid-on-bone-scintigraphy-in-patients-with-end-stage-renal-disease
#4
Keunyoung Kim, Seong-Jang Kim, Sang H Song, In-Joo Kim, Kyoungjune Pak, So J Kim, Senghyeon Shin, Bum S Kim
OBJECTIVE: We aimed to determine the factors contributing toward diffusely increased renal uptake on bone scintigraphy using technetium-99m (Tc-99m) diphosphono-propanedicarboxylic acid (DPD) in patients with end-stage renal disease. PATIENTS AND METHODS: One-hundred and forty-three bone scintigraphies, performed between June 2007 and July 2013, in 135 patients with chronic kidney disease were analyzed retrospectively, including 22 bone scintigraphies (15 patients; eight women; seven men) with glomerular filtration rates less than 15 ml/min/1...
December 2017: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#5
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
November 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28364032/sodium-glucose-transporter-2-inhibition-has-no-renoprotective-effects-on-non-diabetic-chronic-kidney-disease
#6
Qiuyue Ma, Stefanie Steiger, Hans-Joachim Anders
Sodium glucose transporter (SGLT)-2 inhibition has renoprotective effects in diabetic kidney disease. Whether similar effects can be achieved also in non-diabetic kidney disease is speculative. Chronic kidney disease was induced in C57BL/6N mice by feeding an oxalate-rich diet for 14 days, known to induce nephrocalcinosis-related tubular atrophy and interstitial fibrosis without directly affecting the glomerular compartment. Empagliflozin treatment started from day 0 of oxalate feeding had no effect on the decline of glomerular filtration rate, crystal deposition, blood urea nitrogen or serum creatinine levels on day 7 and 14...
April 2017: Physiological Reports
https://www.readbyqxmd.com/read/28218266/crystal-nephropathies-mechanisms-of-crystal-induced-kidney-injury
#7
REVIEW
Shrikant R Mulay, Hans-Joachim Anders
Crystals can trigger a wide range of kidney injuries that can lead to acute kidney injury, chronic kidney disease, renal colic or nephrocalcinosis, depending on the localization and dynamics of crystal deposition. Studies of the biology of crystal handling by the kidney have shown that the formation of different crystals and other microparticles and the associated mechanisms of renal damage share molecular mechanisms, such as stimulation of the NLRP3 inflammasome or direct cytotoxicity through activation of the necroptosis signalling pathway...
April 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#8
Harald Seeger, Peter Salfeld, Rüdiger Eisel, Carsten A Wagner, Nilufar Mohebbi
Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis...
June 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/27924398/a-randomised-phase-i-ii-trial-to-evaluate-the-efficacy-and-safety-of-orally-administered-oxalobacter-formigenes-to-treat-primary-hyperoxaluria
#9
Bernd Hoppe, Patrick Niaudet, Rémi Salomon, Jérôme Harambat, Sally-Anne Hulton, William Van't Hoff, Shabbir H Moochhala, Georges Deschênes, Elisabeth Lindner, Anna Sjögren, Pierre Cochat
BACKGROUND: Primary hyperoxaluria (PH) is a rare, genetic disorder which involves the overproduction of endogenous oxalate, leading to hyperoxaluria, recurrent urolithiasis and/or progressive nephrocalcinosis and eventually resulting in kidney failure and systemic oxalosis. The aim of this trial was to investigate whether treatment involving an oxalate-metabolising bacterium (Oxalobacter formigenes) could reduce urinary oxalate excretion in PH patients. METHODS: The efficacy and safety of O...
May 2017: 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
#10
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/27612997/hyperoxaluria-requires-tnf-receptors-to-initiate-crystal-adhesion-and-kidney-stone-disease
#11
Shrikant R Mulay, Jonathan N Eberhard, Jyaysi Desai, Julian A Marschner, Santhosh V R Kumar, Marc Weidenbusch, Melissa Grigorescu, Maciej Lech, Nuru Eltrich, Lisa Müller, Wolfgang Hans, Martin Hrabě de Angelis, Volker Vielhauer, Bernd Hoppe, John Asplin, Nicolai Burzlaff, Martin Herrmann, Andrew Evan, Hans-Joachim Anders
Intrarenal crystals trigger inflammation and renal cell necroptosis, processes that involve TNF receptor (TNFR) signaling. Here, we tested the hypothesis that TNFRs also have a direct role in tubular crystal deposition and progression of hyperoxaluria-related CKD. Immunohistochemical analysis revealed upregulated tubular expression of TNFR1 and TNFR2 in human and murine kidneys with calcium oxalate (CaOx) nephrocalcinosis-related CKD compared with controls. Western blot and mRNA expression analyses in mice yielded consistent data...
March 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27372182/-primary-hyperoxaluria-a-review
#12
Hassan Bouzidi, Ali Majdoub, Michel Daudon, Mohamed Fadhel Najjar
Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxalate and oxalate with recessive autosomal transmission. As a result, an increased endogenous production of oxalate leads to exessive urinary oxalate excretion. PH type 1, the most common form, is due to a deficiency of the peroxisomal enzyme alanine: Glyoxylate aminotransferase (AGT) in the liver. PH type 2 is due to the deficiency of the glyoxylate reductase/hydroxypyruvate réductase, present in the cytosol of hepatocytes and leucocytes...
November 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27349612/-nephrolithiasis-of-adult-from-mechanisms-to-preventive-medical-treatment
#13
REVIEW
M Courbebaisse, C Prot-Bertoye, J-P Bertocchio, S Baron, G Maruani, S Briand, M Daudon, P Houillier
Nephrolithiasis is a very common (prevalence around 10 to 12% in France) and recurrent disorder. Nephrolithiasis is associated to chronic kidney disease and is responsible for 2 to 3% of cases of end-stage renal disease, mainly if it is associated to nephrocalcinosis or to a monogenic disorder (1.6% of nephrolithiasis in adults, among them 1% of cystinuria). To understand the underlying pathophysiological processes, stone analysis (morphology and using infrared spectrophotometry) as well as minimal biological assessment including urine crystal research are required...
January 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27161247/assessment-of-urine-proteomics-in-type-1-primary-hyperoxaluria
#14
Ellen R Brooks, Bernd Hoppe, Dawn S Milliner, Eduardo Salido, John Rim, Leah M Krevitt, Julie B Olson, Heather E Price, Gulsah Vural, Craig B Langman
BACKGROUND: Primary hyperoxaluria type 1 (PH1) and idiopathic hypercalciuria (IHC) are stone-forming diseases that may result in the formation of calcium (Ca) oxalate (Ox) stones, nephrocalcinosis, and progressive chronic kidney disease (CKD). Poorer clinical outcome in PH1 is segregated by the highest urine (Ur)-Ox (UrOx), while IHC outcomes are not predictable by UrCa. We hypothesized that differences would be found in selected Ur-protein (PRO) patterns in PH1 and IHC, compared to healthy intra-familial sibling controls (C) of PH1 patients...
2016: American Journal of Nephrology
https://www.readbyqxmd.com/read/27083280/osteopontin-protects-against-high-phosphate-induced-nephrocalcinosis-and-vascular-calcification
#15
Neil J Paloian, Elizabeth M Leaf, Cecilia M Giachelli
Pathologic calcification is a significant cause of increased morbidity and mortality in patients with chronic kidney disease. The precise mechanisms of ectopic calcification are not fully elucidated, but it is known to be caused by an imbalance of procalcific and anticalcific factors. In the chronic kidney disease population, an elevated phosphate burden is both highly prevalent and a known risk factor for ectopic calcification. Here we tested whether osteopontin, an inhibitor of calcification, protects against high phosphate load-induced nephrocalcinosis and vascular calcification...
May 2016: Kidney International
https://www.readbyqxmd.com/read/26787776/prevalence-of-monogenic-causes-in-pediatric-patients-with-nephrolithiasis-or-nephrocalcinosis
#16
Daniela Anne Braun, Jennifer Ashley Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah Stein, Ari J Wassner, Michael A Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer Varner, John A Sayer, Danko Milosevic, Michelle Baum, Velibor Tasic, Friedhelm Hildebrandt
BACKGROUND AND OBJECTIVES: Nephrolithiasis is a prevalent condition that affects 10%-15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20)...
April 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/26389017/nephrolithiasis-kidney-failure-and-bone-disorders-in-dent-disease-patients-with-and-without-clcn5-mutations
#17
Franca Anglani, Angela D'Angelo, Luisa Maria Bertizzolo, Enrica Tosetto, Monica Ceol, Daniela Cremasco, Luciana Bonfante, Maria Antonietta Addis, Dorella Del Prete
Dent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes. CLCN5 encodes the electrogenic chloride/proton exchanger ClC-5 which is involved in the tubular reabsorption of albumin and LMW proteins, OCRL encodes the inositol polyphosphate 5-phosphatase, and was initially associated with Lowe syndrome. In approximately 25 % of patients, no CLCN5 and OCRL mutations were detected...
2015: SpringerPlus
https://www.readbyqxmd.com/read/26136118/identification-of-the-first-large-deletion-in-the-cldn16-gene-in-a-patient-with-fhhnc-and-late-onset-of-chronic-kidney-disease-case-report
#18
Paulo Marcio Yamaguti, Pollyanna Almeida Costa dos Santos, Bruno Sakamoto Leal, Viviane Brandão Bandeira de Mello Santana, Juliana Forte Mazzeu, Ana Carolina Acevedo, Francisco de Assis Rocha Neves
BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of calcium and magnesium, nephrocalcinosis, chronic kidney disease, and early progression to end-stage renal failure during infancy...
2015: BMC Nephrology
https://www.readbyqxmd.com/read/26058976/revisiting-nephrocalcinosis-a-single-centre-perspective-a-northern-italian-experience
#19
Giorgina Barbara Piccoli, Agostino De Pascale, Olga Randone, Federica Neve Vigotti, Adriano Massimiliano Priola, Carla Naretto, Martina Ferraresi, Emiliano Aroasio, Silvana Gonella, Elena Mongilardi, Stefania Scognamiglio, Valentina Consiglio, Simona Roggero, Antonio Piga, Dario Roccatello, Andrea Veltri
AIM: Nephrocalcinosis is a clinical-pathological entity characterized by the deposition of calcium salts within the kidney parenchyma. Both the protean presentation and multiple causes may explain the lack of data regarding its prevalence. The aim of this study is to report the prevalence and main clinical features of nephrocalcinosis diagnosed in a newly opened nephrology outpatient unit. METHODS: Analysis on the data we prospectively gathered from the start of activity (2007-2013) was carried out...
February 2016: Nephrology
https://www.readbyqxmd.com/read/25949937/primary-and-secondary-hyperoxaluria-understanding-the-enigma
#20
REVIEW
Bhavna Bhasin, Hatice Melda Ürekli, Mohamed G Atta
Hyperoxaluria is characterized by an increased urinary excretion of oxalate. Primary and secondary hyperoxaluria are two distinct clinical expressions of hyperoxaluria. Primary hyperoxaluria is an inherited error of metabolism due to defective enzyme activity. In contrast, secondary hyperoxaluria is caused by increased dietary ingestion of oxalate, precursors of oxalate or alteration in intestinal microflora. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease...
May 6, 2015: World Journal of Nephrology
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