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Keywords: Hypercalciuria
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Journal Articles

Novel Calcium-Sensing Receptor ( CASR ) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics

Open Access
Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Women's and Children's Health
Amnon Zung, Galia Barash, Ehud Banne, Michael A. Levine
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2023) 96 (5): 473–482.
https://doi.org/10.1159/000529833
Published Online: 22 February 2023
... present with hypocalcemia-induced seizures. Calcitriol and calcium supplementation in symptomatic patients may exacerbate hypercalciuria, leading to nephrocalcinosis, nephrolithiasis, and compromised renal function. Methods: We report on a family with seven members over three generations with ADH1 due...
View articletitled, Novel Calcium-Sensing Receptor ( CASR ) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics
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Journal Articles

CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Isabelle Rousseau-Nepton, Glenville Jones, Karlpiet Schlingmann, Martin Kaufmann, Caroline S. Zuijdwijk, Karine Khatchadourian, Indra R. Gupta, Danièle Pacaud, Maury N. Pinsk, Arati Mokashi, Munier A. Nour, R. Todd Alexander, Celia J. Rodd
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (3-4): 124–132.
https://doi.org/10.1159/000517548
Published Online: 28 July 2021
... and SLC34A1 are causes of idiopathic infantile hypercalcemia. Pathogenic variants in both may also give rise to hypercalciuria with nephrocalcinosis or nephrolithiasis without previous hypercalcemia (renal group). Our objective was to examine the frequency of CYP24A1 or SLC34A1 variants in children with early...
View articletitled, CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria
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Journal Articles

Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria

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Subject Area:
Endocrinology , Women's and Children's Health
Yuki Abe, Keisuke Nagasaki, Toru Watanabe, Tokinari Abe, Maki Fukami
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (1): 65–71.
https://doi.org/10.1159/000360291
Published Online: 11 June 2014
...Yuki Abe; Keisuke Nagasaki; Toru Watanabe; Tokinari Abe; Maki Fukami Background: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Patients with compound heterozygous or homozygous mutations develop skeletal lesions in addition...
View articletitled, Association between Compound Heterozygous Mutations of SLC34A3 and Hypercalciuria
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Journal Articles

An Unusual Patient with Hypercalciuria, Recurrent Nephrolithiasis, Hypomagnesemia and G227R Mutation of Paracellin-1: An Unusual Patient with Hypercalciuria and Hypomagnesemia Unresponsive to Thiazide Diuretics

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Subject Area:
Endocrinology , Women's and Children's Health
Faruk Kutluturk, Berna Temel, Bora Uslu, Ferihan Aral, Adil Azezli, Yusuf Orhan, Martin Konrad, Nese Ozbey
Journal: Hormone Research in Paediatrics
Hormone Research (2006) 66 (4): 175–181.
https://doi.org/10.1159/000094253
Published Online: 20 September 2006
...Faruk Kutluturk; Berna Temel; Bora Uslu; Ferihan Aral; Adil Azezli; Yusuf Orhan; Martin Konrad; Nese Ozbey A 19-year-old female patient with hypercalciuria and recurrent nephrolithiasis/urinary tract infection unresponsive to thiazide type diuretics is presented. The patient first experienced...
View articletitled, An Unusual Patient with Hypercalciuria, Recurrent Nephrolithiasis, Hypomagnesemia and G227R Mutation of Paracellin-1: An Unusual Patient with Hypercalciuria and Hypomagnesemia Unresponsive to Thiazide Diuretics
Open the PDF for An Unusual Patient with Hypercalciuria, Recurrent Nephrolithiasis, Hypomagnesemia and G227R Mutation of Paracellin-1: An Unusual Patient with Hypercalciuria and Hypomagnesemia Unresponsive to Thiazide Diuretics in another window