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    Different effects of γ-linolenic acid (GLA) supplementation on plasma and red blood cell phospholipid fatty acid composition and calcium oxalate kidney stone risk factors in healthy subjects from two race groups with different risk profiles pose questions about the GLA-arachidonic acid-oxaluria metabolic pathway: pilot study.
    Urolithiasis 2017 Jun 16. Epub 2017 Jun 16.
    Non-Communicable Diseases Research Unit (NCDRU), South African Medical Research Council, Cape Town, South Africa.
    Fatty acid (FA) composition of phospholipids in plasma and red blood cells (RBC) can influence calciuria, oxaluria and renal stone formation. In this regard, the ratio of arachidonic acid (AA) and its precursor linoleic acid (LA) appears to be important. Administration of γ-linolenic acid (GLA) has been shown to increase the concentration of dihomo-gamma linoleic acid (DGLA) relative to AA indicating that it may attenuate biosynthesis of the latter. Read More

    Recurrent Kidney Stone Episodes Leading to a Diagnosis of Occult Acromegaly.
    Urol Case Rep 2017 Sep 3;14:8-10. Epub 2017 Jun 3.
    Department of Urology, Icahn School of Medicine at Mount Sinai 425 W. 59th Street, Suite 4F, New York, NY 10019, USA.
    The association between nephrolithiasis and acromegaly has been previously described. Although the mechanism has been established, the urological literature sparsely discusses clinically suspecting that patients with recurrent nephrolithiasis could have acromegaly and subsequently referring them for accurate diagnosis and treatment. We present a case of occult acromegaly secondary to a pituitary tumor discovered 20 years after the patient's first stone episode. Read More

    Claudin Loss-of-Function Disrupts Tight Junctions and Impairs Amelogenesis.
    Front Physiol 2017 24;8:326. Epub 2017 May 24.
    Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School, Paris Descartes University, Sorbonne Paris CitéParis, France.
    Claudins are a family of proteins that forms paracellular barriers and pores determining tight junctions (TJ) permeability. Claudin-16 and -19 are pore forming TJ proteins allowing calcium and magnesium reabsorption in the thick ascending limb of Henle's loop (TAL). Loss-of-function mutations in the encoding genes, initially identified to cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), were recently shown to be also involved in Amelogenesis Imperfecta (AI). Read More

    [A family history of renal lithiasis in children diagnosed of urinary tract infection by Escherichia coli].
    An Pediatr (Barc) 2017 Jun 3. Epub 2017 Jun 3.
    Unidad de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, España.
    Introduction: Urinary tract infections (UTI) caused by Escherichia coli (E. coli) are common in patients with idiopathic hypercalciuria. As both UTI and hypercalciuria (prelithiasis) have a genetic basis, we wanted to know whether the family history of urolithiasis is more common in children with UTIs caused by E. Read More

    Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.
    Intractable Rare Dis Res 2017 May;6(2):114-118
    Department of Pediatric, Peking University First Hospital, Beijing, China.
    Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure. We report here the same CLCN5 mutation but different phenotypes in two Chinese brothers, and speculate on the possible reasons for the variability of the genotype-phenotype correlations. Read More

    [Rare metabolic disorders and urolithiasis].
    Urologe A 2017 May 29. Epub 2017 May 29.
    Harnsteinzentrum Rhein-Ahr, Marienhausklinikum im Kreis Ahrweiler, Dahlienweg 3, 53474, Bad Neuenahr-Ahrweiler, Deutschland.
    Numerous metabolic anomalies, which often have no direct pathological relevance when considered individually, are found in all people. In most patients with urinary tract stones, it can be assumed that a specific combination or interaction of these anomalies occurs, thus, resulting in stone formation, but only after individual exogenous risk factors are triggered. Lithogenesis is the result of a cascade of different "events" that are temporally close to one another, but sometimes these events interact strong enough that significant stone growth occurs. Read More

    Efficacy of Teriparatide in Patients with Hypoparathyroidism: A Prospective, Open-label Study.
    Indian J Endocrinol Metab 2017 May-Jun;21(3):415-418
    Department of Endocrinology, Army Hospital (R and R), New Delhi, India.
    Context: Conventional treatment of hypoparathyroidism with calcium, Vitamin D analogs, and thiazide diuretics is often suboptimal, and these patients have poor quality of life. Teriparatide (parathyroid hormone 1-34 [PTH (1-34)]), an amide of PTH, is widely available for the use in osteoporosis; however, its use in hypoparathyroidism is limited.

    Aims: The aim of this study is to evaluate the efficacy of PTH (1-34) in the treatment of patients with hypoparathyroidism. Read More

    [CLINICAL CHARACTERISTICS OF MALE PATIENTS WITH OSTEOPOROSIS REFERRED TO THE ENDOCRINE CLINIC OF A TERTIARY HOSPITAL].
    Harefuah 2017 Apr;156(4):226-229
    Institute of Endocrinology, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
    Introduction: Osteoporosis in men is underdiagnosed and undertreated. The prevalence of male osteoporosis increases with age and it becomes a significant public health burden. Currently, there are a few clinical studies on male osteoporosis with limited knowledge of effective therapeutic options. Read More

    A randomized controlled trial of the effects of hydrochlorothiazide on overactive bladder and idiopathic hypercalciuria.
    Saudi J Kidney Dis Transpl 2017 May-Jun;28(3):566-570
    Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran.
    Overactive bladder is a stressful condition which affects around 15%-20% of 5- year-old and up to 2% of young adults. One of the most common causes of overactive bladder is hypercalciuria. Our study investigated the effect of hydrochlorothiazide (HCTZ) on overactive bladder and hypercalciuria. Read More

    Primary hyperparathyroidism, hypercalciuria, and bone recovery after parathyroidectomy.
    Surgery 2017 May 15. Epub 2017 May 15.
    Department of Molecular Medicine and Surgery, Section of Endocrine Surgery, Karolinska Institutet, Solona, Sweden; Department of Breast and Endocrine Surgery, Karolinska University Hospital, Stockholm, Sweden.
    Background: In primary hyperparathyroidism, successful parathyroidectomy leads to improved bone mineral density in the majority of cases. Our aim was to further explore the relationship between hypercalciuria, kidney function, and bone recovery after parathyroidectomy.

    Methods: Bone mineral density, estimated glomerular filtration rate, and 24-hour urinary calcium were analyzed before and one year after parathyroidectomy in a cohort of 150 primary hyperparathyroidism patients (119 women; median age 60 [range 30-80] years) taking part in a clinical trial. Read More

    Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
    J Appl Genet 2017 May 3. Epub 2017 May 3.
    Department of Nephrology, The Children's Memorial Health Institute, Warsaw, Poland.
    Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. Read More

    Gonadotrophin abnormalities in an infant with Lowe syndrome.
    Endocrinol Diabetes Metab Case Rep 2017 19;2017. Epub 2017 Apr 19.
    Departments of Paediatric Endocrinology and Diabetes.
    Summary: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. Read More

    Evaluation of vitamin D3 intakes up to 15,000 international units/day and serum 25-hydroxyvitamin D concentrations up to 300 nmol/L on calcium metabolism in a community setting.
    Dermatoendocrinol 2017 13;9(1):e1300213. Epub 2017 Apr 13.
    Boston University Medical Center, Boston, MA, USA.
    Supplementation by the general public with vitamin D at doses above the Tolerable Upper Level of Intake (UL) is becoming quite common. The objective of the current analysis was to characterize the effect of vitamin D supplementation at doses up to 15,000 IU/d in a community-based program on vitamin D status, calcium homeostasis as well as on kidney, liver and immune function. We evaluated data collected for 3,882 participants in a community program for whom there were blood measurements at program entry and at follow-up within 6-18 months between 2013 and 2015. Read More

    Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat.
    Indian J Pharmacol 2017 Jan-Feb;49(1):77-83
    Division of Medicine, Indian Veterinary Research Institute, Bareilly, Uttar Pradesh, India.
    Objective: Musa paradisiaca has been used in the treatment of urolithiasis by the rural people in South India. Therefore, we plan to evaluate its efficacy and possible mechanism of antiurolithiatic effect to rationalize its medicinal use.

    Materials And Methods: Urolithiasis was induced in hyperoxaluric rat model by giving 0. Read More

    Nephrolithiasis in Israel: Epidemiological Characteristics of Return Patients in a Tertiary Care Center.
    Isr Med Assoc J 2016 Dec;18(12):725-728
    Department of Urology, Sheba Medical Center, Tel Hashomer, Affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Background: The prevalence and etiology of nephrolithiasis vary, depending on geography, gender and ethnicity.

    Objectives: To analyze the demographic data of return nephrolithiasis patients in a tertiary care center.

    Methods: We retrospectively reviewed our prospective registry database of return patients seen at our outpatient clinic for nephrolithiasis. Read More

    Response of Npt2a knockout mice to dietary calcium and phosphorus.
    PLoS One 2017 27;12(4):e0176232. Epub 2017 Apr 27.
    Section Endocrinology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
    Mutations in the renal sodium-dependent phosphate co-transporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis, but the relative contribution of genotype, dietary calcium and phosphate to the formation of renal mineral deposits is unclear. We previously reported that renal calcium phosphate deposits persist and/or reappear in older Npt2a-/- mice supplemented with phosphate despite resolution of hypercalciuria while no deposits are seen in wild-type (WT) mice on the same diet. Addition of calcium to their diets further increased calcium phosphate deposits in Npt2a-/-, but not WT mice. Read More

    Childhood sustained hypercalcemia: A diagnostic challenge.
    J Clin Res Pediatr Endocrinol 2017 Apr 26. Epub 2017 Apr 26.
    Objective: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention.

    Methods: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. Read More

    Physicochemical factors of the urine of children with hypercalciuria.
    Arch Esp Urol 2017 Apr;70(3):342-348
    Sección de Nefrología Pediátrica. Hospital Universitario Donostia. San Sebastián. Servicio de Pediatría. Hospital Universitario Donostia. San Sebastián. España.
    Objective: Hypercalciuria is a common lithogenic risk factor. The aim of this study was, first, to study the characteristics of urine biochemical factors of children with hypercalciuria (HC) and compare them with those of children without hypercalciuria. Second, to analyze the differences between children with HC and lithiasis (HCL) and children with HC and no lithiasis (HCNL). Read More

    Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK.
    BMC Nephrol 2017 Apr 18;18(1):136. Epub 2017 Apr 18.
    Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
    Background: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology. We set up a dedicated renal stone service for children combining medical and surgical expertise in 1993 and now have a large case series of children to investigate the epidemiology.

    Methods: A retrospective hospital note review of children presenting with kidney stones during the last 22 years (1993-2015) was conducted. Read More

    Thiazide Treatment in Primary Hyperparathyroidism-A New Indication for an Old Medication?
    J Clin Endocrinol Metab 2017 Apr;102(4):1270-1276
    Institute of Endocrinology, Diabetes and Metabolism, and.
    Context: There is no therapy for control of hypercalciuria in nonoperable patients with primary hyperparathyroidism (PHPT). Thiazides are used for idiopathic hypercalciuria but are avoided in PHPT to prevent exacerbating hypercalcemia. Nevertheless, several reports suggested that thiazides may be safe in patients with PHPT. Read More

    Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
    J Am Soc Nephrol 2017 Apr 5. Epub 2017 Apr 5.
    Department of Genetics and.
    Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations. Read More

    Parathyroid hormone controls paracellular Ca(2+) transport in the thick ascending limb by regulating the tight-junction protein Claudin14.
    Proc Natl Acad Sci U S A 2017 Apr 3;114(16):E3344-E3353. Epub 2017 Apr 3.
    Division of Bone and Mineral Research, Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, Boston, MA 02115;
    Renal Ca(2+) reabsorption is essential for maintaining systemic Ca(2+) homeostasis and is tightly regulated through the parathyroid hormone (PTH)/PTHrP receptor (PTH1R) signaling pathway. We investigated the role of PTH1R in the kidney by generating a mouse model with targeted deletion of PTH1R in the thick ascending limb of Henle (TAL) and in distal convoluted tubules (DCTs): Ksp-cre;Pth1r(fl/fl) Mutant mice exhibited hypercalciuria and had lower serum calcium and markedly increased serum PTH levels. Unexpectedly, proteins involved in transcellular Ca(2+) reabsorption in DCTs were not decreased. Read More

    Calcium-to-Citrate Ratio Distinguishes Solitary and Recurrent Urinary Stone Forming Children.
    J Urol 2017 Mar 30. Epub 2017 Mar 30.
    Children's Hospital Medical Center, Cincinnati, Ohio; Laboratory Corporation of America® Holdings, Chicago, Illinois (JA).
    Purpose: The prevalence of urinary stone disease is increasing in children. We previously reported a high rate of urinary metabolic abnormalities, including hypercalciuria and hypocitraturia, in stone forming children. In this study we determined whether calcium-to-citrate ratio could help predict those at risk for recurrent stone formation. Read More

    Diagnosis and treatment of Dent disease in 10 Chinese boys.
    Intractable Rare Dis Res 2017 Feb;6(1):41-45
    Department of Pediatric, Peking University First Hospital, Beijing, China.
    Dent disease is a rare X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life. Dent disease is clinically characterized by the presence of low molecular weight proteinuria (LMWP), hypercalciuria, medullary nephrocalcinosis, nephrolithiasis, and progressive renal failure. The clinical features, diagnosis, and treatment of Dent disease were examined in 10 Chinese boys. Read More

    Influence of Feeding Types during the First Months of Life on Calciuria Levels in Healthy Infants: A Secondary Analysis from a Randomized Clinical Trial.
    Ann Nutr Metab 2017 29;70(2):132-139. Epub 2017 Mar 29.
    Universitat Rovira i Virgili, IISPV, Reus, Spain.
    Background/aims: Dietary factors can modify calciuria. We aim to investigate urinary calcium excretion in healthy infants according to their protein.

    Methods: Secondary data analysis from a randomized clinical trial where healthy term infants were randomized after birth to a higher (HP) or lower (LP) protein content formula that was consumed until age 1 year. Read More

    Association between Circulating Vitamin D Level and Urolithiasis: A Systematic Review and Meta-Analysis.
    Nutrients 2017 Mar 18;9(3). Epub 2017 Mar 18.
    Department and Institute of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Wuhan 430030, China.
    Many studies compared the serum/plasma 1,25 dihydroxyvitamin D₃ (1,25(OH)₂D) and 25 hydroxyvitamin D₃ (25(OH)D) between people with and without nephrolithiasis, and their results were conflicting. After systematically searching PubMed, Web of Science, The Cochrane Library, CNKI, and the Wanfang Database, we conducted a meta-analysis. Thirty-two observational studies involving 23,228 participants were included. Read More

    Whey protein and albumin effects upon urinary risk factors for stone formation.
    Urolithiasis 2017 Mar 22. Epub 2017 Mar 22.
    Nephrology Division, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), Rua Botucatu 740, Vila Clementino, CEP 04023-900, São Paulo, SP, Brazil.
    Protein supplements are consumed for an expected increase in muscle mass and improved exercise performance, but as their impact on lithogenic parameters are unknown, we aimed to evaluate the effects of Whey protein (WP) and Albumin upon the risk factors for nephrolithiasis. WP or Albumin supplements (one scoop/day) were administered for 3 days to 18 healthy volunteers, with 1-week washout period between them. Serum and 24-h urine samples were collected at baseline and after completing each intervention. Read More

    CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
    J Clin Endocrinol Metab 2017 May;102(5):1440-1446
    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
    Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low-calcium diet, reduced dietary vitamin D intake, and limited sunlight exposure. Read More

    Effect of Vitamin D replacement in Primary Hyperparathyroidism with concurrent Vitamin D deficiency: a systematic review and meta-analysis.
    Minerva Endocrinol 2017 Mar 14. Epub 2017 Mar 14.
    Division of Endocrinology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
    Introduction: We conducted a meta-analysis to assess the effects of vitamin D replacement on biochemical and skeletal parameters in subjects with mild primary hyperparathyroidism (PHPT) and coexistent vitamin D deficiency.

    Evidence Acquisition: A systematic search of all English-language medical literature published from 1980 till May 2016 using Pubmed, Embase and Ovid was performed. Nine observational studies were evaluated after fulfilling the inclusion and exclusion criteria. Read More

    Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
    PLoS One 2017 13;12(3):e0173581. Epub 2017 Mar 13.
    Pediatric Nephrology, Vall d'Hebron University Hospital, Universitat Autonoma, Barcelona, Spain.
    Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p. Read More

    The impact of hypomagnesemia on erectile dysfunction in elderly, non-diabetic, stage 3 and 4 chronic kidney disease patients: a prospective cross-sectional study.
    Clin Interv Aging 2017 24;12:437-444. Epub 2017 Feb 24.
    Division of Internal Medicine.
    Background: Erectile dysfunction (ED) is common in older men with chronic kidney disease. Magnesium is essential for metabolism of nitric oxide which helps in penile erection. There is little information available about the influence of serum magnesium on ED. Read More

    [Quantitative mineralogical analyzes of kidney stones and diagnosing metabolic disorders in female patients with calcium oxalate urolithiasis].
    Urologiia 2016 Feb(1):11-15
    Department of Surgery and Urology, IvSMA of Minzdrav of Russia.
    Objective: To conduct a complex examination of female patients with calcium oxalate urolithiasis to detect metabolic disorders, leading to stone formation.

    Materials And Methods: The study was carried out using complex physical and chemical methods, including quantitative X-ray phase analysis of urinary stones, pH measurement, volumetry, urine and blood spectrophotometry.

    Results: Quantitative mineralogical composition of stones, daily urine pH profile, daily urinary excretion of ions of calcium, magnesium, oxalate, phosphate, citrate and uric acid were determined in 20 female patients with calcium oxalate stones. Read More

    Management of Primary Hyperparathyroidism: Can We Do Better?
    Am Surg 2017 Jan;83(1):64-70
    The Oregon Clinic, Portland, Oregon, USA.
    The failure to follow national guidelines in management of various diseases has been previously established. We sought to quantify primary care providers' familiarity with primary hyperparathyroidism as it affects adherence to the 2009 National Institute of Health (NIH) consensus recommendations in treatment of primary hyperparathyroidism. A large primary care group was surveyed to determine their familiarity with the 2009 NIH consensus recommendations for management of primary hyperparathyroidism (PHPT). Read More

    A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.
    Hum Mutat 2017 Jun 21;38(6):649-657. Epub 2017 Mar 21.
    Department of Pediatrics, The University of Alberta, Edmonton, Alberta, T6G 2R7, Canada.
    The greatest risk factor for kidney stones is hypercalciuria, the etiology of which is largely unknown. A recent genome-wide association study (GWAS) linked hypercalciuria and kidney stones to a claudin-14 (CLDN14) risk haplotype. However, the underlying molecular mechanism was not delineated. Read More

    [Metabolic study. How to make it accessible, useful and generalized.]
    Arch Esp Urol 2017 Jan;70(1):71-90
    Unidad de Litiasis. Servicio de Urología. Complejo Hospitalario Universitario de A Coruña. España.
    Risk factors should be evaluated in all patients with urinary lithiasis. The kind of evaluation, simplified or extended, depends on stone composition and, in patients with calcium lithiasis, on the clinical presentation. These studies are done in an outpatient regimen, are easy to perform and accessible for most laboratories. Read More

    [Etiopathogenic factors of the different types of urinary litiasis.]
    Arch Esp Urol 2017 Jan;70(1):40-50
    Unidad de Urolitiasis y Endourología. Servicio de Urología. Complejo Hospitalario Universitario Granada. España.
    In this review, we analyze the etiopathogenic principles of urinary lithiasis formation. In the kidney, calcifications that may cause renal lithiasis are produced as a consequence of processes that injury the urothelium at the papilla and Bellini's ducts. With the improvement of imaging techniques, mainly micro CT scan, it is possible to detect them and we may be able to anticipate to the formation of lithiasis. Read More

    Multiple sclerosis and nephrolithiasis: a matched-case comparative study.
    BJU Int 2017 Jun 17;119(6):919-925. Epub 2017 Mar 17.
    Cleveland Clinic Glickman Urological Kidney Institute, Cleveland, OH, USA.
    Objective: To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation.

    Patients And Methods: In this retrospective case-control study, we identified patients diagnosed with MS and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to two controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index, and sex. Read More

    Vitamin D supplementation guidelines.
    J Steroid Biochem Mol Biol 2017 Feb 12. Epub 2017 Feb 12.
    Medicine, Endocrinology & Nutrition, Cardio Metabolic Institute, NJ, USA.
    Research carried out during the past two-decades extended the understanding of actions of vitamin D, from regulating calcium and phosphate absorption and bone metabolism to many pleiotropic actions in organs and tissues in the body. Most observational and ecological studies report association of higher serum 25-hydroxyvitamin D [25(OH)D] concentrations with improved outcomes for several chronic, communicable and non-communicable diseases. Consequently, numerous agencies and scientific organizations have developed recommendations for vitamin D supplementation and guidance on optimal serum 25(OH)D concentrations. Read More

    Tubular Dysfunction Mimicking Dent's Disease in 2 Infants Born with Extremely Low Birth Weight.
    Case Rep Nephrol Dial 2017 Jan-Apr;7(1):13-17. Epub 2017 Jan 20.
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
    Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative. Read More

    Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria?
    Osteoporos Int 2017 May 13;28(5):1761-1762. Epub 2017 Feb 13.
    Laboratory for Research of Musculoskeletal System "Theodoros Garofalidis", University of Athens, KAT Hospital, 10 Athinas Str., Kifissia, 145 61, Athens, Greece.

    Clinical and molecular aspects of distal renal tubular acidosis in children.
    Pediatr Nephrol 2017 Jun 10;32(6):987-996. Epub 2017 Feb 10.
    Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
    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. Read More

    Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria.
    Pediatr Nephrol 2017 Jun 10;32(6):1029-1033. Epub 2017 Feb 10.
    Department of Pediatric Urology, Children's Hospital of Michigan, Detroit, MI, USA.
    Background: Using a proteomic approach, we aimed to identify and compare the urinary excretion of proteins involved in lipid transport and metabolism in children with kidney stones and hypercalciuria (CAL), hypocitraturia (CIT), and normal metabolic work-up (NM), and in healthy controls (HCs). Additionally, we aimed to confirm these results using ELISA, and to examine the relationship between the urinary excretion of selected proteins with demographic, dietary, blood, and urinary parameters.

    Methods: Prospective, controlled, pilot study of pooled urine from CAL, CIT, and NM versus age- and gender-matched HCs, using liquid chromatography-mass spectrometry. Read More

    Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3
.
    Horm Res Paediatr 2017 Feb 2. Epub 2017 Feb 2.
    Background/aims: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. Read More

    Hypercalcemia induces targeted autophagic degradation of aquaporin-2 at the onset of nephrogenic diabetes insipidus.
    Kidney Int 2017 May 27;91(5):1070-1087. Epub 2017 Jan 27.
    Systems Biology Center, Research Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Epithelial Systems Biology Laboratory, National Heart, Lung, and Blood Institute, Bethesda, Maryland, USA. Electronic address:
    Hypercalcemia can cause renal dysfunction such as nephrogenic diabetes insipidus (NDI), but the mechanisms underlying hypercalcemia-induced NDI are not well understood. To elucidate the early molecular changes responsible for this disorder, we employed mass spectrometry-based proteomic analysis of inner medullary collecting ducts (IMCD) isolated from parathyroid hormone-treated rats at onset of hypercalcemia-induced NDI. Forty-one proteins, including the water channel aquaporin-2, exhibited significant changes in abundance, most of which were decreased. Read More

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