Results 21 to 30 of about 2,591 (165)
Frontiers in Medicine, 2023 Background and aimsVitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites.
Ludmila Brunerova +4 more
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Pediatric idiopathic hypercalciuria with bilateral nephrolithiasis and hypertensive urgency
Universa Medicina, 2017 Background Pediatric nephrolithiasis is an important cause of morbidity worldwide. Even with low prevalence, nephrolithiasis can cause detrimental long-term effects on kidney function. Idiopathic hypercalciuria is the most common cause of renal stones in
Natharina Yolanda, Irene Irene
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Integrative microRNA-gene expression network analysis in genetic hypercalciuric stone-forming rat kidney [PDF]
PeerJ, 2016 Background. MicroRNAs (miRNAs) influence a variety of biological functions by regulating gene expression post-transcriptionally. Aberrant miRNA expression has been associated with many human diseases.
Yuchao Lu +6 more
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Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2018 Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis.
Peco-Antić Amira +4 more
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Türk Osteoporoz Dergisi, 2015 Compared to adult studies, there are a limited number of pediatric studies exploring the effects of hypercalciuria on bone mineral density. The aim of this paper was to report a case of low-energy multilevel vertebral fracture in a pediatric patient ...
Emine Eda Kurt +4 more
doaj +1 more source
Renal Tubular Impairment in Children with Idiopathic Hypercalciuria
Acta Medica, 2006 Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable cause. The excretion of urinary N-acetyl-beta-D-glucosaminidase (U-NAG), a marker of proximal tubular damage, has been ...
Sylva Skálová, Štěpán Kutílek
doaj +1 more source
Avaliação metabólica da litíase cálcica idiopática recorrente em Portugal.
Acta Médica Portuguesa, 2004 Idiopathic calcium stone disease is the most frequent type of nephrolithiasis in industrialised countries. Several metabolic, environmental and genetic factors have described and may be involved in its pathogenesis.
Adelaide Serra +3 more
doaj +1 more source
Kidney Stone, Nutritional Perceptions and Impact of Tea on Stone Formation
Phytochemicals in Food and Medicine, Volume 1, Issue 2, June 2026.ABSTRACT The significant financial burden that urinary stone disease places on healthcare systems is only anticipated to increase over time. It is becoming more common over the globe. It is an increasing urinary condition that impacts around 12% of the global population, and environmental variables appear to be a key contributor.
Munir Ahmed +5 more
wiley +1 more source
Children, 2023 Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2
Teofana Otilia Bizerea-Moga +7 more
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Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source