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Hypercalciuria

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https://www.readbyqxmd.com/read/28077342/can-stoss-therapy-be-used-in-children-with-vitamin-d-deficiency-or-insufficiency-without-rickets
#1
Cemil Koçyiğit, Gönül Çatlı, Gülberat İnce, Elif Büşra Özkan, Bumin Nuri Dündar
OBJECTIVE: Stoss treatment has also been suggested due to non-skeletal benefits of vitamin D in adults, but no sufficient data are present about the optimal dose of vitamin D replacement in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10.000 IU/kg and 300.000 IU vitamin-D3) administered in children with vitamin D deficiency/insufficiency without rickets. METHODS: Sixty-four children who had vitamin-D deficiency/insufficiency were studied...
January 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28063842/relationship-between-urinary-calcium-and-bone-mineral-density-in-patients-with-calcium-nephrolithiasis
#2
Khashayar Sakhaee, Naim M Maalouf, John Poindexter, Beverley Adams-Huet, Orson W Moe
BACKGROUND: Calcium nephrolithiasis is associated with an increased risk of osteoporosis and fracture. Hypercalciuria has been assumed to be pathogenic for bone loss in kidney stone formers (KSF), although this association was shown in small cross-sectional studies. We explored the association of urine calcium (UCaV) with bone mineral density (BMD) in KSF. METHODS: We retrospectively studied BMD in KSF. Excluded were subjects with hypercalcemia, chronic bowel disease, primary hyperparathyroidism, distal renal tubular acidosis or endogenous creatinine clearance <40 ml/min...
January 4, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28056318/-clinical-characteristics-of-adult-onset-primary-hypoparathyroidism-a-retrospective-analysis-of-200-cases
#3
T T Quan, Y P Li, O Wang, Y Jiang, W B Xia, M Li, X Q Cheng, X W Meng, X P Xing
Objective: To study the clinical characteristics of primary hypoparathyroidism in adults. Methods: The clinical data of 200 cases with adult-onset primary hypoparathyroidism in Peking Union Medical College Hospital during December 1987 to December 2015 were collected and analyzed retrospectively. Among them, 128 cases were followed up for a median period of 3 years. Results: The major manifestations at their first visits were tetany and numbness in the distal extremities(81.5%, 163/200 and 62.0%, 124/200). Thirty-two percent of the cases (62 cases) had history of seizures, and 60...
January 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#4
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27995107/evaluating-the-effectiveness-of-adding-magnesium-chloride-to-conventional-protocol-of-citrate-alkali-therapy-on-kidney-stone-size
#5
Hassan Niroomand, Amin Ziaee, Keivan Ziaee, Alaleh Gheissari
BACKGROUND: Potassium citrate (K-Cit) is one of the therapeutic solutions broadly used in patients with urolithiasis. However, recent studies have shown that it is not so effective. Therefore, the goal of our study was to evaluate the effect of a combination of K-Cit - MgCl2 oral supplements, on urinary stone size. MATERIALS AND METHODS: This study was performed on 70 asymptomatic urolithiasis cases. The supplements included K-Cit and magnesium chloride (MgCl2), purchased from (Merck Company, Germany)...
2016: Advanced Biomedical Research
https://www.readbyqxmd.com/read/27994868/outcomes-of-living-kidney-donors-with-medullary-sponge-kidney
#6
Wisit Cheungpasitporn, Charat Thongprayoon, Brady A Brabec, Wonngarm Kittanamongkolchai, Stephen B Erickson
BACKGROUND: Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied. METHODS: We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. All adults with MSK (N = 26) who underwent nephrectomy as living kidney donors between January 2000 and September 2014 were included. Non-donors with MSK (N = 78) were randomly selected by matching the year of birth and the comorbidity score with a ratio of 1:3 for comparison...
December 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27981376/vitamin-d-deficiency-is-prevalent-among-idiopathic-stone-formers-but-does-correction-pose-any-risk
#7
Nikhil Johri, Philippe Jaeger, Pietro M Ferraro, Linda Shavit, Devaki Nair, William G Robertson, Giovanni Gambaro, Robert J Unwin
While vitamin D (vitD) deficiency is thought to contribute to poor health in a variety of ways and should be corrected, there is still concern about giving vitD supplements to patients with a history of nephrolithiasis. The aim is to study the prevalence of vitD deficiency and the effect on stone risk of cholecalciferol (vitD3) supplementation in a cohort of idiopathic stone formers (ISF). We screened for vitD deficiency and urinary measures of stone risk, comparing vitD deficient (serum 25-OH vitD ≤30 nmol/L; ≤12 ng/mL) with vitD insufficient (31-75 nmol/L; 13-30 ng/mL) or vitD replete (>75 nmol/L; >30 ng/mL); we investigated the effect of giving vitD3 (20,000 IU orally, weekly for 4 months) to 37 of the vitD deficients...
December 16, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27967299/thiazide-treatment-in-primary-hyperparathyroidism-a-new-indication-for-an-old-medication
#8
Gloria Tsvetov, Dania Hirsch, Ilan Shimon, Carlos Benbassat, Hiba Masri-Iraqi, Alexander Gorshtein, Dana Herzberg, Tzippy Shochat, Ilana Shraga-Slutzky, Talia Diker-Cohen
CONTEXT: There is no available targeted therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazide diuretics are used for idiopathic hypercalciuria but avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. OBJECTIVE: To test the safety and efficacy of thiazides in PHPT. DESIGN: Retrospective analysis of medical records...
December 14, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27959841/kidney-stones-composition-frequency-and-relation-to-metabolic-diagnosis
#9
Francisco R Spivacow, Elisa E Del Valle, Ernesto Lores, Paula G Rey
Nephrolithiasis is one of the most frequent urologic diseases. The aim of this paper is to study the composition and frequency of 8854 patient kidney stones and in a subset of them their metabolic risk factors to be related to their type of calculi. Physicochemical and crystallographic methods were used to assess kidney stone composition. In a subset of 715 patients, we performed an ambulatory metabolic protocol with diagnostic purposes. From the total sample 79% of stones were made of calcium salts (oxalate and phosphate), followed by uric acid stones in 16...
2016: Medicina
https://www.readbyqxmd.com/read/27939817/late-onset-hereditary-hypophosphatemic-rickets-with-hypercalciuria-hhrh-due-to-mutation-of-slc34a3-npt2c
#10
Gauri Dhir, Dong Li, Hakon Hakonarson, Michael A Levine
OBJECTIVE: To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. SUBJECTS: A 54-year-old Vietnamese man, his unaffected two daughters and wife. METHODS: We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells. RESULTS: Biochemical evaluation of the proband revealed hypophosphatemia with increased renal phosphate wasting, hypercalciuria, low serum parathyroid hormone (PTH) and an elevated serum 1,25(OH)2D level...
December 7, 2016: Bone
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#11
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27885183/-osteoporosis-and-mechano-biosciences
#12
Toshio Matsumoto
Mechanical unloading due to long-term bedrest or microgravity during spaceflight causes a devastating influence on bone. Although bisphosphonates can prevent bone loss and hypercalciuria by mechanical unloading for up to 6 months, the influence of unloading for longer period of time is unknown. This is because mechanical loading is one of the most important stimuli for bone formation. Mechanical stress activates several intracellular signaling pathways. Among them, activation of stress-activated cation channel by fluid shear stress stimulates ERK-CREB signaling to enhance the expression of fos family transcription factors, which stimulates IL-11 expression in osteoblastic cells...
2016: Clinical Calcium
https://www.readbyqxmd.com/read/27853022/utility-of-optical-coherence-tomography-in-a-case-of-bilateral-congenital-macular-coloboma
#13
José Enrique Muñoz de Escalona Rojas, Aurora Quereda Castañeda, Olga García García
Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27815594/wnk-signalling-pathways-in-blood-pressure-regulation
#14
REVIEW
Meena Murthy, Thimo Kurz, Kevin M O'Shaughnessy
Hypertension (high blood pressure) is a major public health problem affecting more than a billion people worldwide with complications, including stroke, heart failure and kidney failure. The regulation of blood pressure is multifactorial reflecting genetic susceptibility, in utero environment and external factors such as obesity and salt intake. In keeping with Arthur Guyton's hypothesis, the kidney plays a key role in blood pressure control and data from clinical studies; physiology and genetics have shown that hypertension is driven a failure of the kidney to excrete excess salt at normal levels of blood pressure...
November 4, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27813709/serum-1-25-dihydroxyvitamin-d-as-a-biomarker-of-the-absence-of-hypercalciuria-in-postsurgical-hypoparathyroidism
#15
Luis García-Pascual, María José Barahona, Verónica Perea, Rafael Simó
CONTEXT: Hypercalciuria is an adverse event of postsurgical hypoparathyroidism treatment which can lead to renal complications. The collection of 24-hour urine to detect hypercalciuria is often considered unreliable. OBJECTIVE: To find useful predictive biomarkers of hypercalciuria in patients with permanent postsurgical hypoparathyroidism under treatment with oral calcium and calcitriol supplements. DESIGN: Prospective cross-sectional study...
November 4, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27784695/impaired-urinary-osteopontin-excretion-in-npt2a-mice
#16
Daniel Caballero, Yuwen Li, Julian Ponsetto, Chuanlong Zhu, Clemens Bergwitz
Mutations in the renal sodium-dependent phosphate cotransporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis. Oral phosphate supplementation is currently thought to reduce risk by reversing the hypercalciuria, but the exact mechanism remains unclear and the relative contribution of modifiers of mineralization such as osteopontin (Opn) to the formation of renal mineral deposits in renal phosphate wasting disorders has not been studied. We observed a marked decrease of renal gene expression and urinary excretion of Opn in Npt2a(-/-) mice, a mouse model of these disorders, at baseline...
January 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27771652/fanconi-bickel-syndrome-with-hypercalciuria-due-to-glut-2-mutation
#17
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/27744630/metabolic-risk-factors-in-pediatric-stone-formers-a-report-from-an-emerging-economy
#18
Kiran Imran, Mirza Naqi Zafar, Uzma Ozair, Sadia Khan, Syed Adibul Hasan Rizvi
The goal of this study was to investigate metabolic risk factors in pediatric stone formers in an emerging economy. A prospective, data collection enrolled 250 children age <1-15 years at our center. Risk factors were evaluated by gender and in age groups <1-5, 6-10 and 11-15 years. Patients were evaluated for demographics, blood and 24 h urine for calcium, magnesium, phosphate, uric acid, electrolytes and additional protein, citrate, ammonia and oxalate in urine. All reported values were two sided and statistical significance was considered at p value ≤0...
October 15, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27720411/hyponatremia-as-presentation-in-a-patient-with-neurosarcoidosis
#19
Ekin Akyildiz, Murat Yalcin, Fidan Sever, Hüseyin Semiz, Senol Kobak
Sarcoidosis is an inflammatory disease with unknown cause characterized by non-caseating granuloma formations. It may present with bilateral hilar lymphadenopathy, skin lesions, eye and musculoskeletal system involvement. Hypercalcemia and hypercalciuria are important electrolyte imbalances resulting from sarcoidosis and sometimes they may cause nephrolitiasis and kidney failure. Hyponatremia, although being quite rare, has been found in some patients with sarcoidosis. Herein, we have reported a patient with neurosarcoidosis who presented with hyponatremia and responded well to corticosteroid treatment...
October 5, 2016: Reumatología Clinica
https://www.readbyqxmd.com/read/27711095/metabolic-evaluation-in-patients-with-infected-nephrolithiasis-is-it-necessary
#20
Elisa Cicerello, Mario Mangano, Gian Davide Cova, Franco Merlo, Luigi Maccatrozzo
Fifty-four patients with infected renal lithiasis underwent complete metabolic evaluation searching for underlying factors contributing to stone formation including urine analysis and culture. Metabolic abnormalities were significantly more present in patients with mixed infected stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria in 28% (p < 0.05). Urinary excretion of citrate was low in both groups without statistically significant difference (238+/-117 mg/24 h vs 214+/-104 mg/24/h, t = 0...
October 5, 2016: Archivio Italiano di Urologia, Andrologia
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