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    [Neonatal intoxication to vitamin D in premature babies: A series of 16 cases].
    Arch Pediatr 2017 Aug 14. Epub 2017 Aug 14.
    Centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69677 Bron, France; Université Claude-Bernard-Lyon 1, 69008 Lyon, France.
    Introduction: Preterm neonates are particularly at risk of vitamin D (25-D) deficiency. To prevent rickets and osteopenia in this population, international guidelines vary between 800 and 1000IU per day of vitamin D in Europe and recommend 400IU per day in the USA. Target levels of circulating 25-D are not well identified, with the lower target level 50-75nmol/L and the upper target level probably 120nmol/L. Read More

    Dent disease in Poland: what we have learned so far?
    Int Urol Nephrol 2017 Aug 16. Epub 2017 Aug 16.
    Department and Clinics of Pediatrics, SMDZ, Medical University of Silesia in Katowice, Zabrze, Poland.
    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. Read More

    Syndrome of inappropriate anti-diuresis induces volume-dependent hypercalciuria.
    Osteoporos Int 2017 Aug 15. Epub 2017 Aug 15.
    CHU de Rangueil, Service des Explorations Fonctionnelles Physiologiques, 1, Avenue du Professeur Jean Poulhès-TSA 50032, 310599, Toulouse Cedex, France.
    Hyponatremia is associated with bone demineralization. We hypothesized that, during hyponatremia, calciuria and calcium balance depend on volemic status. We evaluated calciuria in patients with hyponatremia, secondary to SIAD or hypovolemia. Read More

    The variation in urinary calcium levels in adult patients with fracture and surgical intervention.
    J Orthop Surg Res 2017 Aug 15;12(1):123. Epub 2017 Aug 15.
    Department of Orthopedics, Nanjing Drum Tower Hospital, the affiliated hospital of Nanjing University Medical School, 321 Zhongshan Road, Gulou District, Nanjing, Jiangsu Province, 210008, China.
    Background: Generally, a higher calcium diet is fed to fracture patients after surgery. However, recent studies have indicated that higher dietary calcium intakes increase the risk of urinary stones for fracture patients. Therefore, this study aimed to observe the variation in urinary calcium levels among fracture patients who underwent surgery, based on fracture type, fracture location, age and gender. Read More

    Surgery for Primary Hyperparathyroidism: Adherence to Consensus Guidelines in an Academic Health System.
    Ann Surg 2017 Aug 11. Epub 2017 Aug 11.
    *Section of Endocrine Surgery, UCLA David Geffen School of Medicine, Los Angeles, CA †Department of Biostatistics, UCLA Fielding School of Public Health, Los Angeles, CA ‡Division of Endocrinology, Diabetes, and Metabolism, UCLA David Geffen School of Medicine, Los Angeles, CA §Division of Endocrinology, Diabetes, and Metabolism, VA Greater Los Angeles Healthcare System, Los Angeles, CA.
    Objective: To determine the extent to which consensus guidelines for surgery in patients with primary hyperparathyroidism (PHPT) are followed within an academic health system.

    Background: Previous studies have shown that adherence to consensus guidelines in community practice is low.

    Methods: Adults with biochemically confirmed PHPT who received primary care within an academic health system were identified from 2005 to 2015. Read More

    Ketogenic diets in the treatment of epilepsy.
    Curr Pharm Des 2017 Aug 9. Epub 2017 Aug 9.
    Hannover Medical School, Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover. Germany.
    Background: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). Read More

    PRIMARY ALDOSTERONISM AS A CAUSE OF SECONDARY OSTEOPOROSIS.
    Eur J Endocrinol 2017 Aug 8. Epub 2017 Aug 8.
    A Scillitani, Unit of Endocrinology, Ospedale "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy
    Objective: Patients with primary aldosteronism (PA) have a high prevalence of osteoporosis (OP) and fractures (Fx). We evaluated the presence of PA in patients admitted to our metabolic bone disease outpatient clinic.

    Design: Study conducted on an in- and outpatient basis in a referral Italian endocrinology unit. Read More

    A curious case of growth failure and hypercalcemia: Answers.
    Pediatr Nephrol 2017 Aug 7. Epub 2017 Aug 7.
    Division of Nephrology, University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
    Background: Sarcoidosis is a multisystem granulomatous disease of unknown etiology that rarely presents in childhood. Here, we report a case of pediatric sarcoidosis, presenting with renal failure and hypercalcemia.

    Case Diagnosis/treatment: A previously well 14-year-old Caucasian boy was admitted to the Hospital for Sick Children, Canada, for hypertension and renal failure following work-up by his family physician for initial concerns of growth failure. Read More

    A curious case of growth failure and hypercalcemia: Questions.
    Pediatr Nephrol 2017 Aug 7. Epub 2017 Aug 7.
    Division of Nephrology, University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
    Background: Sarcoidosis is a multisystem granulomatous disease of unknown etiology that rarely presents in childhood. Here, we report a case of pediatric sarcoidosis presenting with renal failure and hypercalcemia.

    Case Diagnosis/treatment: A previously well 14-year-old Caucasian boy was admitted to the Hospital for Sick Children, Canada, for hypertension and renal failure following work-up by his family physician for initial concerns of growth failure. Read More

    SaRNA-mediated activation of TRPV5 reduces renal calcium oxalate deposition in rat via decreasing urinary calcium excretion.
    Urolithiasis 2017 Aug 3. Epub 2017 Aug 3.
    Department of Urology, Minimally Invasive Surgery Center, The First Affiliated Hospital of Guangzhou Medical University, Kangda Road 1#, Haizhu District, Guangzhou, 510230, Guangdong, China.
    Hypercalciuria is a main risk factor for kidney stone  formation. TRPV5 is the gatekeeper protein for mediating calcium transport and reabsorption in the kidney. In the present study, we tested the effect of TRPV5 activation with small activating RNA (saRNA), which could induce gene expression by targeting the promoter of the gene, on ethylene glycol (EG)-induced calcium oxalate (CaOx) crystals formation in rat kidney. Read More

    Can adverse effects of excessive vitamin D supplementation occur without developing hypervitaminosis D?
    J Steroid Biochem Mol Biol 2017 Jul 19. Epub 2017 Jul 19.
    Department of Applied Oral Sciences, Forsyth Institute, Cambridge, MA, USA; Department of Preventive & Community Dentistry, School of Dentistry, University of Rwanda College of Medicine & Health Sciences, Kigali, Rwanda; Department of Oral Health Policy & Epidemiology, Harvard School of Dental Medicine, Boston, MA, USA; Department of Pathology, Lake Erie College of Osteopathic Medicine, Erie, PA, USA. Electronic address:
    Vitamin D is a fat-soluble hormone that has endocrine, paracrine and autocrine functions. Consumption of vitamin D-supplemented food & drugs have increased significantly in the last couple of decades due to campaign and awareness programs. Despite such wide use of artificial vitamin D supplements, serum level of 25 hydroxyvitamin D does not always reflect the amount of uptake. Read More

    The effect of vitamin D and calcium supplementation in pediatric steroid-sensitive nephrotic syndrome.
    Pediatr Nephrol 2017 Jul 19. Epub 2017 Jul 19.
    Department of Paediatric Nephrology, Institute of Child Health, Kolkata, India.
    Background: Low serum levels of total 25-hydroxycholecalciferol (25(OH)D) occur in nephrotic syndrome (NS). We aimed to assess the effects of vitamin D3 and calcium supplementation on 25(OH)D levels, bone mineralization, and NS relapse rate in children with steroid-sensitive NS.

    Methods: A randomized controlled trial (RCT) was performed in children with steroid-sensitive NS. Read More

    Clinical and genetic characterization of Chinese pediatric cystine stone patients.
    J Pediatr Urol 2017 Jun 24. Epub 2017 Jun 24.
    Department of Urology, Jiangsu Province Hospital of Traditional Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, PR China.
    Introduction: Cystine stone is the only clinical manifestation in patients with cystinuria, which is an autosomal recessive inheritable disease. However, clinical and genetic data vary among patients in different countries.

    Objective: To investigate the characteristics of Chinese pediatric cystine stone patients. Read More

    Nephrocalcinosis in a young male with anorexia nervosa.
    CEN Case Rep 2017 Jul 1. Epub 2017 Jul 1.
    Division of Adolescent Medicine, Department of Pediatrics, Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
    Nephrocalcinosis (NC) has been described as a long-term complication of anorexia nervosa (AN). This is the first report of this complication in an adolescent male patient. We describe the case of a 12-year-old male with AN who presented with acute food restriction and excessive exercising leading to three inpatient admissions. Read More

    [The long-term results of the treatment of renal hypercalciuria - a report of two cases].
    Pol Merkur Lekarski 2017 Jun;42(252):260-263
    Chair and Department of Pediatry and Nephrology, Medical University of Warsaw, Poland.
    In recent years there can be observed a growing number of cases of urolithialis, both in children and in adults. Many pathogenic mechanisms of forming stones have been recognized and there is possible profounder diagnostics. Facing increasing problem of urolithialis in children, it is necessary to seek all possible causes of the disease to prevent forming stones, relapses and its further consequences. Read More

    Evaluation of a 12-week targeted vitamin D supplementation regimen in patients with active inflammatory bowel disease.
    Clin Nutr 2017 Jun 15. Epub 2017 Jun 15.
    Department of Gastroenterology, Alfred Hospital, 55 Commercial Rd, Melbourne, Victoria 3004, Australia; Department of Medicine, Monash University, 55 Commercial Rd, Melbourne, Victoria 3004, Australia. Electronic address:
    Background & Aims: Vitamin D at serum 25(OH)D concentrations above 100 nmol/L is associated with disease remission in patients with IBD, suggesting targeted dosing might be anti-inflammatory. This study aimed to assess the effectiveness, safety and predictors of a 12-week regimen of vitamin D supplementation to achieve such a target in patients with active disease.

    Methods: In a pilot study, patients with active colitis and a serum 25(OH)D concentration <75 nmol/L were prescribed oral liquid vitamin D supplementation over 12 weeks using a specific protocol with dose adjusted 4-weekly to aim for a target level of 100-125 nmol/L. Read More

    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 Jul;56(7):895-899
    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 Aug 15;162(2):429-436. 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 Aug 3;58(3):349-353. 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

    A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
    Hum Genet 2017 Jul 25;136(7):835-845. Epub 2017 Apr 25.
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism. 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 Aug 5;28(8):2540-2552. 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

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