Medullary nephrocalcinosis in idiopathic hypercalciuria [PDF]
Clinical Case Reports, 2017 Key Clinical Message Idiopathic hypercalciuria is a metabolic abnormality characterized by excessive calcium excretion in the urine with normal serum calcium levels and is a common risk factor for formation of kidney stones and/or nephrocalcinosis. These
Abhilash Koratala, Vikrampal Bhatti
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Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure [PDF]
Clinical Case ReportsBartter syndrome is an idiopathic condition that may manifest antenatally, characterized by a spectrum of symptoms including maternal polyhydramnios, prematurity, polyuria, hypercalciuria, nephrocalcinosis, normomagnesemia, vomiting, growth retardation ...
Athina A. Samara +9 more
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Mutations in Are Not a Common Cause of Pediatric Idiopathic Hypercalciuria in Canada [PDF]
Canadian Journal of Kidney Health and Disease, 2022 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.
Emma H. Ulrich +6 more
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An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report [PDF]
Acta Clinica Croatica, 2021 CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis.
Ivana Trutin, Iva Škorić
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Prevalence of idiopathic hypercalciuria in children with urinary system related symptoms attending a pediatric hospital in Bandar Abbas in 2014 [PDF]
Electronic Physician, 2017 Background: Idiopathic hypercalciuria is a group of diseases which can be manifested with urinary symptoms. Its importance is due to high prevalence, recurrent infections, and stone formations which are often asymptomatic.
Maryam Esteghamati +2 more
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The Vitamin D Metabolite Diagnostic Ratio Associates With Phenotypic Traits of Idiopathic Hypercalciuria [PDF]
Kidney International ReportsIntroduction: Underlying mechanisms for hypercalciuria remain unknown in most cases; thus, the designation “idiopathic.” We hypothesized that the vitamin D-inactivating enzyme, CYP24A1 contributes to the pathogenesis of hypercalciuria in kidney stone ...
Nasser A. Dhayat +15 more
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Pediatria i Medycyna Rodzinna, 2016 Idiopathic hypercalciuria is one of the most commonly diagnosed metabolic disorders in paediatric and adult patients with urolithiasis. Increased urinary calcium excretion is defined as >4 mg/kg per day.
Joanna Milart, Katarzyna Jobs, Anna Jung
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Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant [PDF]
Journal of Rare DiseasesCYP24A1 is gene that encodes one of the cytochrome P450 superfamily enzymes involved in the breakdown of 1,25-dihydroxyvitamin D3. Genetic variants in CYP24A1 lead to a range of phenotypical and biochemical presentations, including idiopathic infantile ...
Marwa Abouzeina +5 more
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Bone disease and idiopathic hypercalciuria. [PDF]
Semin Nephrol, 2008 Observational and epidemiologic studies alike have shown that idiopathic hypercalciuric (IH) stone-forming patients typically show bone mineral density scores that are significantly lower than those observed for age- and sex-matched normal subjects or those for nonhypercalciuric stone-forming patients.
Zerwekh JE.
europepmc +4 more sources
Familial idiopathic hypercalciuria
The Turkish Journal of Pediatrics, 1988 N Buyan +3 more
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