Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report [PDF]
Orphanet Journal of Rare Diseases, 2010 Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M +4 more
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The predictive value of 24-hour urinary calcium for kidney stone risk in primary hyperparathyroidism: insight from a retrospective study of parathyroid adenoma cases [PDF]
Frontiers in EndocrinologyBackgroundPrimary hyperparathyroidism (PHPT) is associated with an increased risk of kidney stones. However, the clinical utility of 24-hour urinary calcium (24h-UCa) as a predictor of nephrolithiasis, and its role in surgical decision-making, remains ...
Arti Bhan +9 more
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Association of demographic and biochemical factors with hypercalciuria among Meitei adults in Manipur, Northeast India: a cross-sectional study [PDF]
Osong Public Health and Research PerspectivesObjectives This study aimed to investigate the association of demographic variables and serum calcium with hypercalciuria among the Meitei adult population of Manipur, Northeast India.
Robertson Singh Aheibam +5 more
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Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report [PDF]
Clinical Case ReportsFamilial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin‐16 or Claudin‐19 genes.
Rummana Tazia Tonny +3 more
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Mutations in Are Not a Common Cause of Pediatric Idiopathic Hypercalciuria in Canada
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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Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]
, 2015 open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo +9 more
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Hypercalciuria and hyperparathyroidism — is there always a connection?
Ожирение и метаболизм, 2022 Hypercalciuria is a pathological condition characterized by an excess of daily calcium excretion. A high concentration of urine calcium can initiate stone formation. There are several types of hypercalciuria, each requires an individual approach.
S. S. Mirnaya, A. K. Eremkina
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Journal of the American Society of Nephrology, 2005 Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics of hypercalciuria is understanding its pathophysiology. Hypercalciuria is a complex trait.
Orson W, Moe, Olivier, Bonny
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Frontiers in Medicine, 2021 Hypercalciuria may represent a challenge during the workup for osteoporosis management. The present study aimed: (1) to describe the phenotype associated with hypercalciuria in vitamin D-sufficient (serum 25 hydroxyvitamin D (25OHD) > 20 ng/ml ...
Federico Nicoli +6 more
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Urinary risk factors for calcium oxalate urolithiasis in children with monosymptomatic enuresis [PDF]
Journal of Nephropathology, 2021 Introduction: A disturbed calcium-phosphate balance is an important issue for kidney stone formation in nephrolithiasis. Hypercalciuria (HC) has been proposed as an essential etiology of monosymptomatic nocturnal enuresis (MNE).
Alicja Liszewska +4 more
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