ReviewFrontiers in physiology2016
Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.
Review in Frontiers in physiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.Frontiers in endocrinology · 2023Pooled it
- Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Pooled it
- Renal and systemic complications in autosomal dominant hypocalcemia type 1: a case series from North East England.Journal of the Endocrine Society · 2026Article
- Clinical characteristics of chinese patients with autosomal dominant hypocalcemia type 1: a single-center study.Journal of endocrinological investigation · 2026Article
- Clinical and molecular characterization of familial hypocalciuric hypercalcemia in an endocrine practice: a case series of 25 patients.JBMR plus · 2026Article
- An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.Hormones (Athens, Greece) · 2026Review
- Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.Cells · 2026Review
- Personalised prevention and management of kidney stones: a narrative review on the importance of integrating environmental, social and genetic factors.Public health reviews · 2026Review
- Vitamin D and Mineral Ion Regulation.Advances in experimental medicine and biology · 2026Review
- Case Report: Palopegteriparatide as a novel therapeutic option in pediatric autosomal dominant hypocalcemia type 1.Frontiers in endocrinology · 2026Article
- Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.Journal of endocrinological investigation · 2025Review
- Hypoparathyroidism: an update on new therapeutic approaches.Endocrine · 2025Review
- New insights into the vitamin D/PTH axis in endocrine-driven metabolic bone diseases.Endocrine · 2024Review
- Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.Children (Basel, Switzerland) · 2023Article
- Autosomal dominant hypocalcemia with a novelThe Journal of international medical research · 2022Review
- Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2022Article
- Recurrent hypocalcemic tetany presenting to the emergency room: Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.International journal of molecular sciences · 2022Review
- Activation of the calcium sensing receptor increases claudin-14 expression via a PLC -p38-Sp1 pathway.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Extracellular calcium is essential for life and its concentration in the blood is maintained within a narrow range. This is achieved by a feedback loop that receives input from the calcium-sensing receptor (CASR), expressed on the surface of parathyroid cells. In response to low ionized calcium, the parathyroids increase secretion of parathyroid hormone (PTH) which increases serum calcium. The CASR is also highly expressed in the kidneys, where it regulates the reabsorption of calcium from the primary filtrate. Autosomal dominant hypocalcemia (ADH) type 1 is caused by heterozygous activating mutations in the CASR which increase the sensitivity of the CASR to extracellular ionized calcium. Consequently, PTH synthesis and secretion are suppressed at normal ionized calcium concentrations. Patients present with hypocalcemia, hyperphosphatemia, low magnesium levels, and low or low-normal levels of PTH. Urinary calcium excretion is typically increased due to the decrease in circulating PTH concentrations and by the activation of the renal tubular CASR. Therapeutic attempts using CASR antagonists (calcilytics) to treat ADH are currently under investigation. Recently, heterozygous mutations in the alpha subunit of the G protein G11 (Gα11) have been identified in patients with ADH, and this has been classified as ADH type 2. ADH2 mutations lead to a gain-of-function of Gα11, a key mediator of CASR signaling. Therefore, the mechanism of hypocalcemia appears similar to that of activating mutations in the CASR, namely an increase in the sensitivity of parathyroid cells to extracellular ionized calcium. Studies of activating mutations in the CASR and gain-of-function mutations in Gα11 can help define new drug targets and improve medical management of patients with ADH types 1 and 2.
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