4,363 results match your criteria Hypercalciuria

Mild Idiopathic Infantile Hypercalcemia - Part 1: Biochemical and Genetic Findings.

J Clin Endocrinol Metab 2021 Jun 14. Epub 2021 Jun 14.

Division of Endocrinology and Diabetes and Center for Bone Health, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States.

Context: Idiopathic Infantile Hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25(OH)2D and low PTH levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms. Read More

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Rapid hypercalciuria induction with bone formation marker reduction during immobilization in children.

Endocr Pract 2021 Jun 4. Epub 2021 Jun 4.

Endocrinology and Metabolism Department, Tokyo Metropolitan Children's Medical Center. Electronic address:

Objective: The present study aimed to examine prospectively the occurrence of hypercalciuria and changes in bone metabolite markers in pediatric patients during immobilization.

Methods: In total, 13 children with an orthopedic disease requiring immobilization longer than two weeks were enrolled. Blood samples were collected after breakfast. Read More

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Renal Papillary Necrosis Associated With Normocalcemic Primary Hyperparathyroidism.

AACE Clin Case Rep 2021 Mar-Apr;7(2):113-116. Epub 2020 Dec 28.

Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland.

Objectives: Renal papillary necrosis (RPN) occurring in primary hyperparathyroidism (PHPT) has not been reported. We present a 50-year-old woman who manifested RPN associated with hypercalciuria and normocalcemic PHPT.

Methods: The diagnosis of RPN was based on imaging studies (ultrasound and computed tomography [CT] scan). Read More

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December 2020

Histomorphometry evaluation of bone anabolism promoted by prostaglandin E1 and its relation to hypercalcemia.

Bol Med Hosp Infant Mex 2021 Jun 2. Epub 2021 Jun 2.

Dirección de Planeación. Hospital Infantil de México Federico Gómez, Mexico City, Mexico.

Background: At present, parathyroid hormone is the only existing anabolic bone therapy but produces hypercalcemia. Prostaglandin E1 (PGE1) has been suggested as a bone anabolic agent that allows bone modeling formation without producing hypercalcemia. This study aimed to corroborate these PGE1 properties. Read More

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Haematuria in children.

Br J Hosp Med (Lond) 2021 May 26;82(5):1-8. Epub 2021 May 26.

Department of Paediatric Urology, Great Ormond Street Hospital for Children, London, UK.

Haematuria is a common finding in children and can be macroscopic or microscopic. In contrast to adults, haematuria in children very rarely indicates an underlying malignant pathology. The differential diagnosis is broad, with the most common underlying causes being infection, glomerulonephritis and hypercalciuria. Read More

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[Metabolic investigation of stone formers].

Ther Umsch 2021 Jun;78(5):235-240

Abteilung Urologie, CHUV, Lausanne.

Metabolic investigation of stone formers Once a kidney stone has passed, patients must be carefully evaluated in order to identify the underlying cause of the disease and to guide preventive measures and treatment. General recommendations can be offered to all kidney stone formers, but personalized counseling and follow-up adaptations need to be guided by in-depth assessment. Metabolic evaluation for recurrent stone formers is based on 24 h urine collection. Read More

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A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.

BMC Endocr Disord 2021 May 22;21(1):103. Epub 2021 May 22.

Department of Endocrinology and Metabolism, Peking University People's Hospital, No 11, Xizhimen Nan Street, Xicheng District, 100044, Beijing, China.

Background: Pseudohypoaldosteronism type II (PHAII), also called Gordon syndrome, is a rare hereditary disease caused by variants in the WNK1, WNK4, KLHL3 and CUL3 genes. The combination of PHAII with hyperthyroidism and secondary hyperparathyroidism has not been reported previously.

Case Presentation: A 54-year-old female with recently diagnosed Graves' disease presented hyperkalemia, hypertension, hypercalciuria, elevated levels of parathyroid hormone (PTH) and normal renal function. Read More

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[A complex case of renal phosphate wasting…].

Nephrol Ther 2021 May 11. Epub 2021 May 11.

Service de néphrologie, dialyse et aphérèse thérapeutique, hôpital de Mercy CS45001, CHR de Metz-Thionville, 1, allée du Château, 57085 Metz cedex 03, France. Electronic address:

We describe here the case report of a young man of 34-years old suffering from a haemorrhagic rectocolitis and presenting with marked hypophosphatemia secondary to an infusion of ferric-carboxymaltose. The renal phosphate wasting was asserted by a very low renal maximal reabsorption rate of phosphate associated with a high plasma FGF-23 level. Three months later we explored the patient and his father since we learnt that both of them had suffered from kidney stones for years with marked hypercalciuria. Read More

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Novel Dent Disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Hum Mol Genet 2021 May 13. Epub 2021 May 13.

Renal Physiopathology Group, Vall d'Hebron Research Institute (VHIR)-CIBBIM Nanomedicine, Barcelona, Spain.

Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl-/H+ antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype correlation and their contribution to proximal tubule dysfunction remains unclear. To further discover the mechanisms linking ClC-5 loss-of-function to proximal tubule dysfunction, we have generated novel DD1 cellular models depleted of ClC-5 and carrying ClC-5 mutants p. Read More

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When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.

Mol Cytogenet 2021 May 5;14(1):23. Epub 2021 May 5.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, 76000, Rouen, France.

Background: Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). Read More

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Acromegaly and non-parathyroid hormone-dependent hypercalcemia: a case report and literature review.

BMC Endocr Disord 2021 May 1;21(1):90. Epub 2021 May 1.

Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, 610041, Chengdu, China.

Background: Hypercalcemia associated with acromegaly is mostly parathyroid hormone (PTH)-dependent, being caused by parathyroid hyperplasia or adenoma, which are common in individuals with multiple endocrine adenomatosis-1 (MEN-1). The rare occurrence of non-PTH-dependent hypercalcemia associated with acromegaly is attributable to complex factors involving increased intestinal calcium absorption, enhanced bone calcium release, and reduced urinary calcium elimination. Although patients with acromegaly often have mild hyperphosphatemia and hypercalciuria, clinically significant hypercalcemia is extremely rare. Read More

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Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.

J Nephrol 2021 Apr 30. Epub 2021 Apr 30.

Fisiopatologia Renal, Centre D'Investigacions en Bioquímica I Biologia Molecular (CIBBIM), Institut de Recerca Vall D'Hebron (VHIR), Barcelona, Spain.

Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy caused by mutations in the CLDN16 or CLDN19 genes. Patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life. Patients with CLDN19 mutations may also have ocular abnormalities. Read More

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Dietary calcium intake in a cohort of individuals evaluated for low bone mineral density: a multicenter Italian study.

Aging Clin Exp Res 2021 Apr 28. Epub 2021 Apr 28.

Department of Medical Science, Section of Gerontology and Bone Metabolic Disease, University of Turin, Turin, Italy.

Background: A low calcium intake is a well-known factor that influences the bone mineral density (BMD) maintenance. In the presence of inadequate calcium intake, secondary hyperparathyroidism develops, leading to an increased bone turnover and fracture risk.

Aims: To assess the dietary calcium intake in relation with osteoporosis and fragility fracture in a cohort of Italian individuals evaluated for low BMD. Read More

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Potassium citrate vs. hydrochlorothiazide to reduce urinary calcium excretion in calcium oxalate stone patients with hypercalciuria: a prospective randomized study.

Int Urol Nephrol 2021 Apr 26. Epub 2021 Apr 26.

Department of Urology, Ankara University School of Medicine, 06480, Altindag, Ankara, Turkey.

Purpose: Calcium oxalate (Ca-Ox) is the most common stone composition and one of the most common 24-h urine anomalies is hypercalciuria. The purpose of this study was to evaluate the efficacy of potassium citrate (K-CIT) for prevention of hypercalciuria in comparison with hydrochlorothiazide (HCT) in patients with calcium oxalate stones and hypercalciuria.

Materials And Methods: In this prospective randomized study, patients were randomized to receive either HCT (50 mg/day) or K-CIT (40 mEq/day) following achieving stone-free status. Read More

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[PTH-replacement therapy in hypoparathyroidism : what benefits ?]

Rev Med Suisse 2021 Apr;17(735):788-792

Service des maladies osseuses, Département de médecine, HUG, 1211 Genève 14.

Hypoparathyroidism is a rare disease. In the last decade, important publications have described clinical disease progression and long-term complications. Furthermore, this condition has benefited from major therapeutic advances with the emergence of a hormonal substitution therapy with injectable parathyroid hormone, rhPTH (1-84) (Recombinant human parathyroid hormone, 1-84). Read More

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A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3.

Kidney Int 2021 Apr 16. Epub 2021 Apr 16.

Outpatient Clinics, German Hyperoxaluria Center, Cologne/Bonn, Germany. Electronic address:

Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To investigate this, we retrospectively analyzed the largest PH3 cohort reported so far. Of 95 patients, 74 were followed over a median of six years. Read More

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Switching from conventional therapy to burosumab injection has the potential to prevent nephrocalcinosis in patients with X-linked hypophosphatemic rickets.

J Pediatr Endocrinol Metab 2021 Jun 12;34(6):791-798. Epub 2021 Apr 12.

Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan.

Objectives: X-linked hypophosphatemic rickets (XLH) is a congenital fibroblast growth factor (FGF)23-related metabolic bone disease that is treated with active vitamin D and phosphate as conventional therapies. Complications of these therapies include nephrocalcinosis (NC) caused by excessive urine calcium and phosphate concentrations. Recently, an anti-FGF23 antibody, burosumab, was developed and reported to be effective in poorly-controlled or severe XLH patients. Read More

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Crosstalk between Renal and Vascular Calcium Signaling: The Link between Nephrolithiasis and Vascular Calcification.

Int J Mol Sci 2021 Mar 30;22(7). Epub 2021 Mar 30.

Department of Urology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704302, Taiwan.

Calcium (Ca) is an important mediator of multicellular homeostasis and is involved in several diseases. The interplay among the kidney, bone, intestine, and parathyroid gland in Ca homeostasis is strictly modulated by numerous hormones and signaling pathways. The calcium-sensing receptor (CaSR) is a G protein-coupled receptor, that is expressed in calcitropic tissues such as the parathyroid gland and the kidney, plays a pivotal role in Ca regulation. Read More

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Simultaneous Homozygous Mutations in and in an Inbred Chinese Pedigree.

Genes (Basel) 2021 Mar 5;12(3). Epub 2021 Mar 5.

Department of Nephrology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Long-quan Branch, Longquan 323716, China.

Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by and mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunction, hypomagnesemia, hypocalciuria, hyperuricemia, normotension, hyperreninemia and chondrocalcinosis in knees and Achilles tendons. His parents are first cousin. Read More

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Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.

Nutrients 2021 Mar 4;13(3). Epub 2021 Mar 4.

Department of Gastroenterology and Nutrition, University Children's Hospital Niño Jesús, 28009 Madrid, Spain.

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and movement disorders. Ketogenic dietary therapies (KDT) are the gold standard treatment. Similar symptoms may appear in SLC2A1 negative patients. Read More

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Modulation of Tubular pH by Acetazolamide in a Ca Transport Deficient Mice Facilitates Calcium Nephrolithiasis.

Int J Mol Sci 2021 Mar 17;22(6). Epub 2021 Mar 17.

Calcium Signaling Laboratory, Research Service, Veterans Affairs Medical Center, 50 Irving Street, NW, Washington, DC 20422, USA.

Proximal tubular (PT) acidosis, which alkalinizes the urinary filtrate, together with Ca supersaturation in PT can induce luminal calcium phosphate (CaP) crystal formation. While such CaP crystals are known to act as a nidus for CaP/calcium oxalate (CaOx) mixed stone formation, the regulation of PT luminal Ca concentration ([Ca]) under elevated pH and/or high [Ca] conditions are unknown. Since we found that transient receptor potential canonical 3 (TRPC3) knockout (KO; -/-) mice could produce mild hypercalciuria with CaP urine crystals, we alkalinized the tubular pH in TRPC3-/- mice by oral acetazolamide (0. Read More

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Molecular mechanisms altering tubular calcium reabsorption.

Pediatr Nephrol 2021 Apr 1. Epub 2021 Apr 1.

Department of Paediatrics, The University of Alberta, Edmonton, Alberta, T6G 2R7, Canada.

The majority of calcium filtered by the glomerulus is reabsorbed along the nephron. Most is reabsorbed from the proximal tubule (> 60%) via a paracellular pathway composed of the tight junction proteins claudins-2 and -12, a process driven by sodium and consequently water reabsorption. The thick ascending limb reabsorbs the next greatest amount of calcium (20-25%), also by a paracellular pathway composed of claudins-16 and -19. Read More

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Urinary Metabolic Disorders Associated with Urolithiasis in Cuban Pediatric Patients.

MEDICC Rev 2021 Jan 30;23(1):43-48. Epub 2021 Jan 30.

Dr Abelardo Buch López Nephrology Institute (INEF), Havana,Cuba.

Introduction: Pediatric urinary lithiasis (urolithiasis) is an important health issue linked to urinary metabolic disorders. In the United States alone, annual costs associated with urolithiasis are $229 million for hospital admissions and $146 million for emergency care.

Objective: Identify urinary metabolic disorders in Cuban pediatric patients with urolithiasis and better understand the relationship of age, demographic and anthropometric variables to urinary metabolic disorders strongly associated with urolithiasis. Read More

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January 2021

24-Hour urine collection for first time pediatric stone formers: Is it worth it?

J Pediatr Urol 2021 Jun 5;17(3):387.e1-387.e7. Epub 2020 Dec 5.

Albany Medical College, USA. Electronic address:

Introduction/objective: 24-h urine collections are recommended for motivated first-time stone formers. Given that children have a lifetime potential for recurrences, metabolic work-up has been recommended. 24-hour urine collections can be problematic, especially in children. Read More

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Determinants of hypercalciuria and renal calcifications in chronic hypoparathyroidism: A cross-sectional study.

Clin Endocrinol (Oxf) 2021 Mar 23. Epub 2021 Mar 23.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

Objective: Hypercalciuria, impaired kidney function and renal calcifications are common in chronic hypoparathyroidism (HypoPT). We aimed to study associations between indices of known importance to the kidney in HypoPT by hypothesizing adverse effects of hypercalciuria on renal outcomes.

Design: We used cross-sectional design. Read More

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Pure extra-thoracic sarcoidosis: about 24 cases.

Rom J Intern Med 2021 Mar 22. Epub 2021 Mar 22.

Department of Internal Medicine, Hedi Chaker University Hospital, Sfax, Tunisia.

Introduction: Pure extra-thoracic sarcoidosis is rare and poorly characterized in the literature. Herein we present features of pure extra-thoracic sarcoidosis, in comparison with sarcoidosis with intra-thoracic involvement, in a population from the south of Tunisia.

Methods: Retrospective, descriptive and comparative study of the patients presenting systemic sarcoidosis and attending the Department of Internal Medicine at the Hedi Chaker University Hospital, Sfax, Tunisia, for 21 years, from January1996 to December2016. Read More

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Safety of megadose of vitamin D in patients with nephrolithiasis.

Nutrition 2021 Jul-Aug;87-88:111201. Epub 2021 Feb 12.

Laboratory of the Mosaic of Autoimmunity, Saint Petersburg State University, Saint Petersburg, Russia.

Objective: This article describes two patients with renal lithiasis who received a megadose of 25-hydroxy vitamin D (25[OH]D) and had a good outcome.

Methods: The first case reports a 74-year-old man with a long-term history of renal lithiasis and about four episodes of renal crisis. He was treated once with extracorporeal shock wave lithotripsy. Read More

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February 2021

Large spontaneous steinstrasse: Our experience and management issues in tertiary care centre.

Urologia 2021 Mar 14:3915603211001174. Epub 2021 Mar 14.

Department of Urology, PGIMER, Chandigarh, India.

Background: Steinstrasse, is described as array of stone pieces in the ureter following extracorporeal shock wave lithotripsy (SWL). It is well-recognized, transient event. Steinstrasse clears spontaneously, however about 6% require intervention. Read More

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[Asymptomatic primary hyperparathyroidism : Operation or observation?]

Internist (Berl) 2021 May 12;62(5):496-504. Epub 2021 Mar 12.

Klinik für Gastroenterologie, Gastrointestinale Onkologie und Endokrinologie, Universitätsmedizin Göttingen, Göttingen, Deutschland.

Background: In many cases primary hyperparathyroidism (PHPT) remains asymptomatic for years and is only detected by abnormalities in routine diagnostics. While symptomatic disease almost always requires surgical treatment, in symptom-free patients the question of whether and in what form treatment should be carried out is particularly important.

Objective: The aim of this review is to summarize the current recommendations regarding the diagnostics and treatment of asymptomatic PHPT, taking the existing evidence into account. Read More

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Effect of antepartum vitamin D (cholecalciferol) and postpartum oral calcium administration on serum total calcium concentration in Holstein cows fed an acidogenic diet in late gestation.

Res Vet Sci 2021 May 20;136:239-246. Epub 2021 Feb 20.

Department of Veterinary Clinical Medicine, College of Veterinary Medicine, University of Illinois at Urbana-Champaign, Urbana, USA.

Several strategies are available to control periparturient hypocalcaemia in dairy cows. Three complementary strategies were applied in this study: feeding a low DCAD (acidogenic) ration during late gestation, oral vitamin D (cholecalciferol) administration in late gestation, and oral Ca administration immediately after parturition. Multiparous Holstein cows (n = 240) were fed an acidogenic ration in late gestation and randomly assigned to one of three treatment groups. Read More

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