4,511 results match your criteria Hypercalciuria

A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.

Iran J Kidney Dis 2022 May;16(3):209-213

Department of Nephrology, Hasheminejad Kidney Center, Iran University of Medical Sciences, Tehran, Iran.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is characterized by renal magnesium wasting, hypercalciuria and eventually kidney failure which mostly affects children and young aged adults. Mutation of genes of claudin-16 and claudin-19 are involved in the pathogenesis of this disorder, which leads to renal magnesium and calcium wasting. A 35-year-old man with end-stage kidney disease (ESKD) was referred to our clinic due to bilateral nephrocalcinosis, detected by ultrasonographic study, for further evaluation. Read More

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Fluconazole in hypercalciuric patients with increased 1,25(OH)D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial.

Trials 2022 Jun 16;23(1):499. Epub 2022 Jun 16.

Centre de Référence des Maladies Rénales Rares, filières maladies rares ORKID and ERK-Net, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Boulevard Pinel, 69677, Bron, Cedex, France.

Background: Hypercalciuria is one of the most frequent metabolic disorders associated with nephrolithiasis and/or nephrocalcinosis possibly leading to chronic kidney disease (CKD) and bone complications in adults. Orphan diseases with different underlying primary pathophysiology share inappropriately increased 1,25(OH)D levels and hypercalciuria, e.g. Read More

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Hypercalciuria may predict better response to immunosuppressive therapy in renal sarcoidosis: a case series.

J Nephrol 2022 Jun 13. Epub 2022 Jun 13.

Renal Division, Peking University First Hospital, Peking University Institute of Nephrology, No.8 Xishiku Street, Xicheng District, Beijing, China.

Background: Renal sarcoidosis is a rare cause of tubulointerstitial nephritits (TIN). The clinical and pathological characteristics, as well as outcomes, of renal sarcoidosis remain unclear.

Methods: This single-center study retrospectively analyzed 18 patients affected by sarcoidosis with tubulointerstitial nephritis (TIN) and 53 patients with tubulointerstitial nephritis  not related to sarcoidosis. Read More

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Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers.

Pediatr Nephrol 2022 Jun 13. Epub 2022 Jun 13.

Department of Pediatric Nephrology, Dokuz Eylül University Medical Faculty, Balçova, Izmir, 35340, Turkey.

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Clinical spectrum of Hereditary Hypophosphatemic rickets with Hypercalciuria (HHRH).

J Bone Miner Res 2022 Jun 11. Epub 2022 Jun 11.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers. Read More

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Growth hormone therapy in HHRH.

Bone Rep 2022 Jun 18;16:101591. Epub 2022 May 18.

Departments of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.

Background: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) ( gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. Phosphate supplementation rarely improves serum phosphate, hypercalciuria, nephrocalcinosis, 1,25(OH) vitamin D (1,25(OH)D) levels or short stature.

Methods: We describe Na MRI and the successful use of recombinant human growth hormone (rhGH) and Fluconazole to improve growth (possibly confounded by puberty) and hypercalciuria in a now 12-year-old male with HHRH (novel homozygous mutation, c. Read More

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Ketogenic dietary therapies for epilepsy: Experience in 160 patients over 18 years.

An Pediatr (Engl Ed) 2022 Jun 29;96(6):511-522. Epub 2022 May 29.

Department of Gastroenterology and Nutrition, University Childreńs Hospital Niño Jesús, Madrid, Spain.

Aim: Ketogenic dietary therapies (KDT) produce anticonvulsant and neuroprotective effects, reduce seizures and improve the cognitive state in patients with epilepsy. Our purpose was to evaluate the effects of KDT in children with refractory epilepsy (effectiveness, side effects, impact on nutritional status and growth).

Methods: A retrospective and prospective observational descriptive study was conducted in a Spanish tertiary hospital (January 2000 to December 2018). Read More

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Mutations in Are Not a Common Cause of Pediatric Idiopathic Hypercalciuria in Canada.

Can J Kidney Health Dis 2022 19;9:20543581221098782. Epub 2022 May 19.

Department of Pediatrics, University of Alberta, Edmonton, Canada.

Background: Hypercalciuria is the most common risk factor for kidney stone formation, including in pediatric patients. However, the etiology is often unknown and children are frequently diagnosed with idiopathic hypercalciuria. Nearly 50% of children with hypercalciuria have a first-degree relative with kidney stones, suggesting a strong genetic basis for this disease. Read More

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Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Mol Genet Genomics 2022 May 25. Epub 2022 May 25.

Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430000, China.

Objective: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype-phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis.

Methods: The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. Read More

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Thiazide use and skeletal microstructure: Results from a multi-ethnic study.

Bone Rep 2022 Jun 10;16:101589. Epub 2022 May 10.

Division of Endocrinology, Columbia University Irving Medical Center, New York, NY 10032, United States of America.

Background: Thiazide diuretics, a commonly used class of anti-hypertensives, have been associated with increased areal bone mineral density (aBMD). Data regarding effects on fracture are conflicting and no information is available regarding effects on skeletal microstructure and mechanical competence.

Methods: We compared skeletal microstructure, volumetric BMD (vBMD), stiffness and prevalent fractures in current thiazide diuretic users and non-users from a population-based multiethnic cohort of elderly adults age ≥ 65 years ( = 599) with high resolution peripheral quantitative computed tomography (HR-pQCT) and micro-finite element analysis. Read More

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Calcium homeostasis pathologies in hyperparathyroidism: nephrologic and endocrinologic points of view.

Ann Endocrinol (Paris) 2022 May 19. Epub 2022 May 19.

Service de Néphrologie et d'Exploration Fonctionnelle Rénale, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France; Université Lyon 1, Lyon, France; Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares, Filières de Santé Maladies Rares OSCAR, ORKID et ERKNet, France.

Parathyroid hormone (PTH) is a hypercalcemic hormone acting on kidneys, bone and intestine. PTH promotes calcium release from the bone, renal calcium reabsorption and phosphate excretion, and conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D-3. Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (primary hyperparathyroidism, familial hypercalcemia/hypocalciuria, tertiary hyperparathyroidism). Read More

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The role of ophthalmologists in diagnosing marfan syndrome.

Niger J Clin Pract 2022 May;25(5):725-727

Department of Ophtalmology, Faculty of Medicine, University of Niš, Blvd. Dr Zorana Djindjica; Ophthalmology Clinic, Clinical Center Niš, Blvd. Dr Zorana Djindjica, Niš, Serbia.

Background: Marfan syndrome (MFS) is a multisystem connective tissue disorder involving the cardiovascular, skeletal, and ocular systems.

Case Report: We present a case of a 15-year-old boy who was sent to the ophthalmologist for the checkup of the primary disease-hypercalciuria and gigantism for the first time at the age of 5.5 years. Read More

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Bartter-like syndrome induced by tacrolimus in a renal transplanted boy: A Case Report.

Curr Drug Saf 2022 May 18. Epub 2022 May 18.

Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

Introduction/background: Losing-salt tubulopathies, such as Bartter syndrome, are rare and usually inherited due to mutations of tubular reabsorption channels of the nephrons. Despite its scarcity, some cases of acquired losing-salt tubulopathies have been described. In this case report, we discuss the main aspects of Bartter syndrome and present a rare pediatric case of probable tacrolimus-induced Bartter-like syndrome in a renal transplanted boy. Read More

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Impaired Mineral Ion Metabolism in a Mouse Model of Targeted Calcium-Sensing Receptor (CaSR) Deletion from Vascular Smooth Muscle Cells.

J Am Soc Nephrol 2022 May 17. Epub 2022 May 17.

School of Biosciences, Cardiff University, Cardiff, United Kingdom

Background: Impaired mineral ion metabolism is a hallmark of CKD-metabolic bone disorder. It can lead to pathologic vascular calcification and is associated with an increased risk of cardiovascular mortality. Loss of calcium-sensing receptor (CaSR) expression in vascular smooth muscle cells exacerbates vascular calcification Conversely, vascular calcification can be reduced by calcimimetics, which function as allosteric activators of CaSR. Read More

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Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.

Calcif Tissue Int 2022 May 14. Epub 2022 May 14.

Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, 400012, India.

Childhood and adolescent primary hyperparathyroidism (PHPT) is a very rare disease. Data on its molecular genetics are scarce. We performed a retrospective analysis (January 2000-January 2021) to determine the deleterious germline variants and genotype-phenotype correlations in children and adolescents < 20 years diagnosed with PHPT from a single referral center. Read More

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Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

BMC Nephrol 2022 May 12;23(1):182. Epub 2022 May 12.

Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.

Background: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. Read More

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Overview of the clinical efficacy and safety of eldecalcitol for the treatment of osteoporosis.

Arch Osteoporos 2022 05 5;17(1):74. Epub 2022 May 5.

Department of Endocrinology, First Medical Center, General Hospital of the People's Liberation Army of China, Beijing, 100039, China.

Eldecalcitol (ELD) is a new oral analog of the active form of vitamin D with anti-resorptive properties. We conducted a meta-analysis to investigate the efficacy and safety of ELD in osteoporosis. Compared with alfacalcidol, ELD significantly lowered vertebral facture risk, increased bone mineral density, but also had a higher risk of hypercalciuria. Read More

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Gitelman syndrome with normocalciuria - a case report.

BMC Nephrol 2022 05 4;23(1):170. Epub 2022 May 4.

Department of Nephrology, Hypertension and Internal Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, ul. Curie-Skłodowskiej 9, 85-094, Bydgoszcz, Poland.

Background: Gitelman Syndrome (GS) is a hereditary tubulopathy associated with a biallelic inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT). The typical clinical manifestation is a hypokalemic metabolic alkalosis with significant hypomagnesemia, and low urinary calcium excretion. Hypocalciuria is widely believed to be a hallmark of GS that distinguishes it from Barter's syndrome, presenting as hypercalciuria. Read More

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Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.

Cureus 2022 Mar 29;14(3):e23616. Epub 2022 Mar 29.

Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR.

Nephrolithiasis (NL) and urolithiasis (UL) are usual reasons for hospitalization and presentation in pediatric outpatient departments and their incidence continues to rise worldwide. In Morocco, a previous epidemiological study done in the Fez region between January 2003 and November 2013 reported a prevalence of 0.83% of childhood UL. Read More

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Neonatal hydrocolpos presenting as a rapidly progressive abdominal mass with inferior caval vein syndrome.

BMJ Case Rep 2022 May 3;15(5). Epub 2022 May 3.

Paediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands.

A 7-week-old infant was presented at the emergency department with an abdominal mass, unilateral swelling of the groin and suspicion of an inferior caval vein syndrome with bluish discolouration and oedema of the lower extremities. Abdominal imaging showed two large cysts and profound bilateral hydronephrosis. Following laparotomy, an extreme hydrocolpos and an overdistended urinary bladder were found. Read More

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Comparison of infants and children with urolithiasis: a large case series.

Urolithiasis 2022 Apr 28. Epub 2022 Apr 28.

Department of Pediatric Nephrology, Gazi University Medical Faculty, Ankara, Turkey.

We evaluated the demographic features, etiologic risk factors, treatment strategies, and outcome of the infants and children with urolithiasis (UL). A retrospective multicenter study was conducted including 23 Pediatric Nephrology centers in Turkey. The medical records of 2513 children with UL were reviewed. Read More

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Structural basis of TRPV5 regulation by physiological and pathophysiological modulators.

Cell Rep 2022 04;39(4):110737

Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Transient receptor potential vanilloid 5 (TRPV5) is a kidney-specific Ca-selective ion channel that plays a key role in Ca homeostasis. The basal activity of TRPV5 is balanced through activation by phosphatidylinositol 4,5-bisphosphate (PI(4,5)P) and inhibition by Ca-bound calmodulin (CaM). Parathyroid hormone (PTH), the key extrinsic regulator of Ca homeostasis, increases the activity of TRPV5 via protein kinase A (PKA)-mediated phosphorylation. Read More

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Upper urolithiasis in cats with chronic kidney disease: prevalence and investigation of serum and urinary calcium concentrations.

J Feline Med Surg 2022 06 26;24(6):e70-e75. Epub 2022 Apr 26.

Laboratory of Veterinary Internal Medicine II, School of Veterinary Medicine, Nippon Veterinary and Life Science University, Musashino-shi, Tokyo, Japan.

Objectives: This study aimed to define the prevalence of upper urolithiasis in cats with chronic kidney disease (CKD) in a referral population, and to compare urinary calcium:creatinine ratio (UCa:Cr), and total and ionised calcium between cats with CKD with and without upper urolithiasis.

Methods: The medical records of cats diagnosed with CKD were reviewed for signalment, body weight, diet and prevalence of upper urolithiasis. Cats with preserved urine samples were further classified into two groups: urolithiasis group (upper urolithiasis identified by abdominal ultrasonography) and control group (CKD of unknown origin). Read More

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A 14-year-old boy with urolithiasis and hypercalcemia: Questions.

Pediatr Nephrol 2022 Apr 20. Epub 2022 Apr 20.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.

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Evaluation of multinodular goiter and primary hyperparathyroidism leads to a diagnosis of AL amyloidosis.

Thyroid Res 2022 Apr 20;15(1). Epub 2022 Apr 20.

Division of Endocrinology, Diabetes and Metabolism, University of Florida, Gainesville, FL, USA.

Background: Amyloid goiter, defined as excess amyloid within the thyroid gland in such quantities that it produces a clinically apparent goiter, is a very rare manifestation of systemic amyloidosis with cases commonly seen in the setting of Amyloid A (AA) amyloidosis. Amyloid goiter as the primary clinical manifestation secondary to Amyloid light chain (AL) amyloidosis is very rare. We present a case of AL amyloidosis with initial manifestation as goiter with amyloid deposition in the thyroid and the parathyroid gland. Read More

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The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction.

Mol Syndromol 2022 Feb 12;13(2):108-116. Epub 2021 Oct 12.

Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Loss of methylation (LoM) of the imprinting control region 1 (ICR1) in the chromosome 11p15.5 domain is detected in patients with Silver-Russell syndrome (SRS), characterized by asymmetric pre- and postnatal growth restriction, and typical craniofacial features. The patients with intrauterine growth restriction (IUGR) possess a high risk for adult metabolic problems. Read More

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February 2022

Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series.

Kidney Med 2022 Mar 24;4(3):100419. Epub 2022 Jan 24.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota.

Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Read More

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Claudins in kidney health and disease.

Kidney Res Clin Pract 2022 May 15;41(3):275-287. Epub 2022 Mar 15.

Hanyang Biomedical Research Institute, Hanyang University College of Medicine, Seoul, Republic of Korea.

Claudins are strategically located to exert their physiologic actions along with the nephron segments from the glomerulus. Claudin-1 is normally located in the Bowman's capsule, but its overexpression can reach the podocytes and lead to albuminuria. In the proximal tubule (PT), claudin-2 forms paracellular channels selective for water, Na+, K+, and Ca2+. Read More

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Rickets guidance: part II-management.

Pediatr Nephrol 2022 Mar 29. Epub 2022 Mar 29.

Center for Chronically Sick Children, Pediatric Endocrinology, Charitè, University Medicine, Berlin, Germany.

Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. Management includes close monitoring of growth, the degree of leg bowing, bone pain, serum phosphate, calcium, alkaline phosphatase as a surrogate marker of osteoblast activity and thus degree of rickets, parathyroid hormone, 25-hydroxyvitamin D, and calciuria. An adequate calcium intake and normal 25-hydroxyvitamin D levels should be assured in all patients. Read More

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Nephrocalcinosis in very low birth weight infants: incidence, associated factors, and natural course.

Pediatr Nephrol 2022 Mar 28. Epub 2022 Mar 28.

Department of Neonatology, Hopital de la croix rousse, Hospices Civils de Lyon, 69004, Lyon, France.

Background: Preterm kidney is exposed to various exogenous factors that may impact its function such as nephrotoxic drugs or nephrocalcinosis. We investigated prevalence and risk factors of nephrocalcinosis (NC) in recently born very low birth weight (VLBW) infants submitted to improved biological monitoring.

Methods: Retrospective, case-control study in very preterm infants (< 32 + 6 weeks, ≤ 1500 g) admitted to a tertiary care unit during a 6-year period. Read More

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