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Hypercalciuria

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https://www.readbyqxmd.com/read/29652871/calcium-creatinine-ratio-in-a-morning-urine-sample-for-the-estimation-of-hypercalciuria-associated-with-non-glomerular-hematuria-observed-in-children-and-adolescents
#1
Susana Quiñones-Vázquez, María Del Rosario Liriano-Ricabal, Sergio Santana-Porbén, José Reinaldo Salabarría-González
Background: Hypercalciuria might be revealed during the differential diagnosis of hematuria accompanying renal lithiasis (RL). In spite of this, diagnostic accuracy of calcium urinary excretion might be affected by incomplete 24-hour urine collections. In the present study, the diagnostic utility of calcium/creatinine (ICaCre) index for determining hypercalciuria associated with non-glomerular hematuria (NGH) and RL was assessed. Method: ICaCre (mg/mg) index was calculated from calcium (mmol/l) and creatinine (µmol/l) concentrations in an aliquot from a 24-hour urine collection in 169 children and adolescents with NGH or RL...
2018: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29614570/-clinical-features-and-genetic-variants-of-dent-disease-in-10-children
#2
S L Zhao, F Zhao, Y G Sha, Q X Chen, X Q Cheng, S M Huang
Objective: To summarize the clinical features and genetic analysis results of 10 children with Dent disease. Methods: The clinical data and gene test results of 10 boys aged from 8 months to 12 years with Dent disease diagnosed in Children's Hospital of Nanjing Medical University from January 2014 to July 2017 were analyzed retrospectively. Results: All patients had insidious onset, 5 cases were found to have proteinuria on routine urine examination after hospitalization duo to other diseases, 4 cases were admitted to hospital because increased foams in the urine, and 1 case was found to have proteinuria on health checkup...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29601566/-disturbances-of-calcium-metabolism-and-vitamin-d-supplementation-in-sarcoidosis-two-way-street
#3
REVIEW
Anna Kempisty, Anna Lewandowska, Jan Kuś
The role of vitamin D in the human body is not limited only to the regulation of calcium metabolism and secondary to the impact on bones. Recent studies have shown the influence of vitamin D level on muscles, on the risk of cancer, diabetes, hypertension and pulmonary diseases, including granulomatous diseases. Sarcoidosis is a granulomatous disease of unknown etiology. Hypercalcemia in the course of the disease occurs in up to 10% of cases in the consequence of autonomous overproduction of 1,25-dihydroxyvitamin D by macrophages of sarcoid granulomas...
March 27, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29599408/non-parathyroid-hypercalcemia-associated-with-paraffin-oil-injection-in-12-younger-male-bodybuilders
#4
Anne Sophie Koldkjær Sølling, Birgitte Tougaard, Torben Harsløf, Bente Langdahl, Helle Kongsbak Brockstedt, Keld-Erik Byg, Per Ivarsen, Ina Karstoft Ystrøm, Frank Holden Mose, Gustaf Lissel Isaksson, Morten Steen Svarer Hansen, Subagini Nagarajah, Charlotte Ejersted, Elisabeth Bendstrup, Lars Rejnmark
INTRODUCTION: Injection of paraffin oil to augment muscles size is a troubling phenomenon known to cause a foreign-body reaction with formation of granulomas. In a few case-reports, long-term side effects have been reported in terms of hypercalcemia and renal failure. METHODS: We identified a case series of 12 male bodybuilders presenting with non-parathyroid hypercalcemia who previously had injected paraffin oil to increase muscles size. RESULTS: At admission, all patients had moderate to severe hypercalcemia with suppressed PTH levels and impaired renal function...
March 29, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29574006/a-rapid-screening-of-a-recurrent-cyp24a1-pathogenic-variant-opens-the-way-to-molecular-testing-for-idiopathic-infantile-hypercalcemia-iih
#5
Elisa De Paolis, Angelo Minucci, Maria De Bonis, Giovanni Luca Scaglione, Jacopo Gervasoni, Aniello Primiano, Pietro Manuel Ferraro, Daniele Cappellani, Claudio Marcocci, Giovanni Gambaro, Ettore Capoluongo
INTRODUCTION: Loss-of-function mutations in cytochrome P450 family 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH) and adult kidney stone disease. The enzyme deficiency leads to an impaired vitamin D catabolism pathway, resulting in a syndrome characterized by recurrent hypercalcemia, hypercalciuria and suppressed parathyroid hormone (PTH) levels. In these patients, the genetic evaluation of CYP24A1 is an important diagnostic tool, allowing the definitive diagnosis of IIH...
March 21, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29562593/vitamin-d-hypercalciuria-and-kidney-stones
#6
REVIEW
Emmanuel Letavernier, Michel Daudon
The estimated lifetime risk of nephrolithiasis is growing nowadays, and the formation of kidney stones is frequently promoted by hypercalciuria. Vitamin D, and especially its active metabolite calcitriol, increase digestive calcium absorption-as urinary calcium excretion is directly correlated with digestive calcium absorption, vitamin D metabolites could theoretically increase calciuria and promote urinary stone formation. Nevertheless, there was, until recently, low evidence that 25-hydroxyvitamin D serum levels would be correlated with kidney stone formation, even if high calcitriol concentrations are frequently observed in hypercalciuric stone formers...
March 17, 2018: Nutrients
https://www.readbyqxmd.com/read/29527380/bartter-syndrome-type-1-presenting-as-nephrogenic-diabetes-insipidus
#7
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29504582/hypercalcemia-and-hypercalciuria-during-denosumab-treatment-in-children-with-osteogenesis-imperfecta-type-vi
#8
Pamela Trejo, Frank Rauch, Leanne Ward
Children with osteogenesis imperfecta (OI) type VI often have high fracture rates despite the current standard treatment with bisphosphonates. Subcutaneous injections of denosumab have been proposed as an alternative treatment approach, but safety data on denosumab in children are limited. Here we describe fluctuations in bone and mineral metabolism during denosumab treatment in four children with OI type VI who started denosumab (basic protocol: 1 mg per kg body mass every 3 months) between 1.9 and 9.0 years of age, after having received intravenous bisphosphonates previously...
March 1, 2018: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/29482694/pseudohypoaldosteronism-type-ii-a-young-girl-presented-with-hypertension-hyperkalemia-and-metabolic-acidosis
#9
Gul Hassan Sethar, Aisha Almoghawi, Nargis Khan, Wehad Altourah, Najat Mohammed Ashour
Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. The expression of these proteins is limited to the distal convoluted tube and collecting duct of the kidney. PHA II usually responds to salt restriction and thiazide diuretics...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29457022/a-case-report-of-compound-heterozygous-cyp24a1-mutations-leading-to-nephrolithiasis-successfully-treated-with-ketoconazole
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
https://www.readbyqxmd.com/read/29353465/assessment-of-cross-correlations-between-selected-macromolecules-in-urine-of-children-with-idiopathic-hypercalciuria
#20
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
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