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Hypercalciuria

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https://www.readbyqxmd.com/read/29457022/a-case-report-of-compound-heterozygous-cyp24a1-mutations-leading-to-nephrolithiasis-successfully-treated-with-ketoconazole
#1
Emma Davidson Peiris, Raghav Wusirika
CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. We present a case with these lab findings as well as an elevated 25-hydroxyvitamin D/24,25-dihydroxyvitamin D ratio in whom compound heterozygous CYP24A1 mutations were found...
September 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/29421773/study-of-urine-composition-of-patients-with-recurrent-nephrolithiasis-in-lorestan-iran
#2
Babak Hadian, Azita Zafar-Mohtashami, Fershteh Ghorbani
INTRODUCTION: Nephrolithiasis is one of the most common urinary tract diseases. After the first episode of urinary calculus, the risk of recurrence is nearly 40% to 50% at 5 years. Nephrolithiasis is a systemic disease that is associated with some metabolic disorders. This study aimed to provide a picture of the frequency of metabolic abnormalities in patients with nephrolithiasis from west part of Iran. MATERIALS AND METHODS: Patients with recurrent urinary tract calculi referred to the Nephrology-Urology Clinics in Khorramabad city were recruited...
January 2018: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29416283/metabolic-evaluation-of-children-with-urolithiasis
#3
Vijayabhaskar Reddy Gouru, Vedamurthy Reddy Pogula, Surya Prakash Vaddi, Venu Manne, Ranadheer Byram, Lalith Sagar Kadiyala
Aim: The aim of the study is to identify the prevalence of metabolic abnormalities in children with urolithiasis. Materials and Methods: This is a prospective study; all children below 15 years who are found to have urolithiasis were prospectively evaluated with relevant history, clinical examination, and urine and serum testing. Metabolic workup includes complete urine examination, urine culture and sensitivity, and 24-h urinary analysis (lithorisk profile). Results: A total of 55 patients are included in the study...
January 2018: Urology Annals
https://www.readbyqxmd.com/read/29406057/urinary-stone-disease-diagnosis-medical-therapy-and-surgical-management
#4
REVIEW
Wesley W Ludwig, Brian R Matlaga
Clinical suspicion of urolithiasis should be evaluated with low-dose computed tomography as the first-line imaging modality for nonpregnant, adult patients. A period of observation may be appropriate for ureteral stones less than 10 mm, and medical expulsive therapy may be beneficial for facilitating passage of distal ureteral stones. Regardless of stone type, patients should adhere to a low-sodium diet and attempt to achieve a urine volume of more than 2.5 L daily. Individuals with calcium stones should maintain a normal calcium diet, and if stones persist, citrate therapy or thiazide diuretics in the setting of hypercalciuria may be indicated...
March 2018: Medical Clinics of North America
https://www.readbyqxmd.com/read/29405941/renal-impairment-in-hypophosphatasia
#5
J Bacchetta
Renal impairment in hypophosphatasia (HPP) has been described but remains poorly understood: hypercalciuria, nephrocalcinosis and sometimes even chronic kidney failure secondary to chronic hypercalcemia/hypercalciuria or exposure to toxic agents. The objectives of this review are to describe the different renal lesions observed in HPP, and the therapeutic measures that can be applied (in particular, thiazide diuretics).
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29391272/identification-of-co-occurrence-in-a-patient-with-dent-s-disease-and-ada2-deficiency-by-exome-sequencing
#6
Roman Günthner, Matias Wagner, Tobias Thurm, Sabine Ponsel, Julia Höfele, Bärbel Lange-Sperandio
Patients with co-occurrence of two independent pathologies pose a challenge for clinicians as the phenotype often presents as an unclear syndrome. In these cases, exome sequencing serves as a powerful instrument to determine the underlying genetic causes. Here, we present the case of a 4-year old boy with proteinuria, microhematuria, hypercalciuria, nephrocalcinosis, livedo-like rash, recurrent abdominal pain, anemia and continuously elevated CRP. Single exome sequencing revealed the pathogenic nonsense mutation p...
January 29, 2018: Gene
https://www.readbyqxmd.com/read/29376607/-idiopathic-hypercalciuria-diagnosis-and-treatment
#7
Yu V Olefir, A N Yavorskii, D V Butnaru, O V Shatalova, V S Gorbatenko, A S Gerasimenko
Most patients with idiopathic hypercalciuria and calcium nephrolithiasis have a family history of the disease. Idiopathic hypercalciuria is a metabolic abnormality with various causes and developmental pathways. The systematic review describes specific mutations associated with idiopathic hypercalciuria and nephrolithiasis. Detection of these mutations may provide a better understanding of the pathogenesis of this heterogeneous disease and personalize patient management depending on the detected polymorphisms...
December 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29368300/hyperuricosuric-calcium-urolithiasis
#8
REVIEW
Orson W Moe, Li Hao Richie Xu
Hyperuricosuric calcium urolithiasis is a condition of mixed calcium oxalate stones characterized by hyperuricosuria either in isolation or in conjunction with other risk factors for calcium oxalate stones such as hypercalciuria, hyperoxaluria, and hypocitraturia. There are three proposed physicochemical models of pathogenesis where urate in its crystalline phase via heterogeneous nucleation, in its colloidal phase via removal of crystallization inhibitors, and in solution via precipitation crystallization, can all increase propensity to calcium oxalate precipitation...
January 24, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29360069/-calcium-response-to-vitamin-d-supplementation
#9
Francisco R Spivacow, Elisa E Del Valle, Valeria S Pruñonosa, Audri Lizcano, Yira Suárez, Vanina Paz Wasiuchnik
Several studies show the importance of serum vitamin D sufficient levels to prevent multiple chronic diseases. However, vitamin D supplementation and its effects on urine calcium excretion remain controversial. The objective of this prospective and interventional study was to evaluate urine calcium excretion in women with normal calciuria or hypercalciuria, once serum vitamin D sufficiency was achieved. We studied 63 women with idiopathic hypercalciuria, (9 with renal lithiasis) and 50 normocalciuric women...
2018: Medicina
https://www.readbyqxmd.com/read/29357553/re-stone-growth-patterns-and-risk-for-surgery-among-children-presenting-with-hypercalciuria-hypocitraturia-and-cystinuria-as-underlying-metabolic-causes-of-urolithiasis
#10
https://www.readbyqxmd.com/read/29353465/assessment-of-cross-correlations-between-selected-macromolecules-in-urine-of-children-with-idiopathic-hypercalciuria
#11
Katarzyna Jobs, Anna Jung, Sławomir Lewicki, Piotr Murawski, Leszek Pączek, Robert Zdanowski
PURPOSE: The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria. MATERIALS AND METHODS: The study included 90 subjects aged from 12 months to 18 years. The study group comprised 57 subjects- children with urinary tract lithiasis in the course of idiopathic hypercalciuria and the control group - 33 healthy children with no history of urolithiasis...
January 21, 2018: Urology Journal
https://www.readbyqxmd.com/read/29350243/current-opinions-on-nephrolithiasis-associated-with-primary-hyperparathyroidism
#12
REVIEW
Xiaoming Cong, Luming Shen, Xiaojian Gu
Nephrolithiasis is a common urological disease and could be secondary to primary hyperparathyroidism (PHPT). PHPT is traditionally characterised with hypercalcaemia. Recently, a normocalcemic PHPT has been officially recognised at the International Workshops. Regarding this new phenotype, nephrolithiasis is frequently found in studies that evaluate low bone mass. However, until now, no study on aetiology of nephrolithiasis considered normocalcemic PHPT. Hypercalciuria related to PHPT is considered as an important risk factor of stone formation in hypercalcemic PHPT, but the precise relationships between hypercalcemic PHPT and nephrolithiasis and between normocalcemic PHPT and nephrolithiasis remain unclear...
January 19, 2018: Urolithiasis
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#13
REVIEW
Francesco Trepiccione, Federica Prosperi, Luigi Regenburgh de la Motte, Christian A Hübner, Regine Chambrey, Dominique Eladari, Giovambattista Capasso
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1, encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4, encoding for the B1 and a4 subunits of the vH+ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29328898/idiopathic-hypercalciuria-can-we-prevent-stones-and-protect-bones
#14
REVIEW
Laura E Ryan, Steven W Ing
Idiopathic hypercalciuria increases the risk of urinary stones and osteoporosis. The aim of this review is to delineate our current understanding of idiopathic hypercalciuria in the context of bone health, specifically its definition, causes, epidemiology, laboratory evaluation, and potential treatments.
January 2018: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/29277881/quantitative-mineralogical-composition-of-calculi-and-urine-abnormalities-for-calcium-oxalate-stone-formers-a-single-center-results
#15
Andrey V Kustov, Alexander I Strelnikov
PURPOSE: The paper focuses on the relationship of risk factors and metabolic disorders with mineralogical composition of calculi, age and gender of calcium oxalate stone formers. MATERIALS AND METHODS: Stone mineralogical composition, 24 hour biochemistry and pH-profile of urine were examined for sixty four stone formers using powder X-ray diffraction, spectrophotometric and potentiometric techniques. RESULTS: The analysis indicated that 44 % of calculi were composed of pure calcium oxalate monohydrate, whereas other 56 % contained both monohydrate and dihydrate or usually their mixtures with hydroxyl apatite...
December 26, 2017: Urology Journal
https://www.readbyqxmd.com/read/29275531/renal-phosphate-handling-and-inherited-disorders-of-phosphate-reabsorption-an-update
#16
REVIEW
Carsten A Wagner, Isabel Rubio-Aliaga, Nati Hernando
Renal phosphate handling critically determines plasma phosphate and whole body phosphate levels. Filtered phosphate is mostly reabsorbed by Na+-dependent phosphate transporters located in the brush border membrane of the proximal tubule: NaPi-IIa (SLC34A1), NaPi-IIc (SLC34A3), and Pit-2 (SLC20A2). Here we review new evidence for the role and relevance of these transporters in inherited disorders of renal phosphate handling. The importance of NaPi-IIa and NaPi-IIc for renal phosphate reabsorption and mineral homeostasis has been highlighted by the identification of mutations in these transporters in a subset of patients with infantile idiopathic hypercalcemia and patients with hereditary hypophosphatemic rickets with hypercalciuria...
December 23, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29249003/mitochondrial-disease-in-children-the%C3%A2-nephrologist-s-perspective
#17
Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group. OBJECTIVE: To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. STUDY DESIGN: Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29234503/study-protocol-for-a-phase-ii-dose-evaluation-randomized-controlled-trial-of-cholecalciferol-in-critically-ill-children-with-vitamin-d-deficiency-vitdal-picu-study
#18
Dayre McNally, Karin Amrein, Katharine O'Hearn, Dean Fergusson, Pavel Geier, Matt Henderson, Ali Khamessan, Margaret L Lawson, Lauralyn McIntyre, Stephanie Redpath, Hope A Weiler, Kusum Menon
Background: Clinical research has recently demonstrated that vitamin D deficiency (VDD) is highly prevalent in the pediatric intensive care unit (PICU) and associated with worse clinical course. Multiple adult ICU trials have suggested that optimization of vitamin D status through high-dose supplementation may reduce mortality and improve other clinically relevant outcomes; however, there have been no trials of rapid normalization in the PICU setting. The objective of this study is to evaluate the safety and efficacy of an enteral weight-based cholecalciferol loading dose regimen in critically ill children with VDD...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29202723/changes-in-urinary-risk-profile-after-short-term-low-sodium-and-low-calcium-diet-in-recurrent-swiss-kidney-stone-formers
#19
Harald Seeger, Andrea Kaelin, Pietro M Ferraro, Damian Weber, Philippe Jaeger, Patrice Ambuehl, William G Robertson, Robert Unwin, Carsten A Wagner, Nilufar Mohebbi
BACKGROUND: Kidney stone disease is common in industrialized countries. Recently, it has attracted growing attention, because of its significant association with adverse renal outcomes, including end stage renal disease. Calcium-containing kidney stones are frequent with high recurrence rates. While hypercalciuria is a well-known risk factor, restricted intake of animal protein and sodium, combined with normal dietary calcium, has been shown to be more effective in stone prevention compared with a low-calcium diet...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29202719/an-in-vitro-splicing-assay-reveals-the-pathogenicity-of-a-novel-intronic-variant-in-atp6v0a4-for-autosomal-recessive-distal-renal-tubular-acidosis
#20
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences...
December 4, 2017: BMC Nephrology
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