ReviewPediatric nephrology (Berlin, Germany)2009
Inherited forms of renal hypomagnesemia: an update.
Review in Pediatric nephrology (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 65 citations in OpenAlex.
- Chronic magnesium supplementation in a patient with relapsing severe hypomagnesaemia due to a novelBMJ case reports · 2026Article
- Differential regulation of magnesium transporters Slc41, Cnnm and Trpm6-7 in the kidney of salmonids may represent evolutionary adaptations to high salinity environments.BMC genomics · 2024Article
- Untangling the Uncertain Role of Overactivation of the Renin-Angiotensin-Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.International journal of molecular sciences · 2024Review
- Hypomagnesemia: a potential underlooked cause of persistent vitamin D deficiency in chronic kidney disease.Clinical kidney journal · 2023Review
- Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.CEN case reports · 2023Article
- Microvasculopathy and soft tissue calcification in mice are governed by fetuin-A, magnesium and pyrophosphate.PloS one · 2020Article
- A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations inHuman genome variation · 2019Article
- Magnesium deficiency and oxidative stress: an update.BioMedicine · 2016Article
- The role of calbindin-D28k on renal calcium and magnesium handling during treatment with loop and thiazide diuretics.American journal of physiology. Renal physiology · 2016Article
- Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.World journal of pediatrics : WJP · 2015Article
- Hypomagnesemia and hypokalemia: a successful oral therapeutic approach after 16 years of potassium and magnesium intravenous replacement therapy.Clinical kidney journal · 2014Article
- [Anesthesiological management of Gitelman syndrome : Teaching example on physiology and pathophysiology of electrolyte balance].Der Anaesthesist · 2013Article
- Gitelman syndrome: novel mutation and long-term follow-up.Clinical and experimental nephrology · 2012Article
- Gitelman's syndrome: a pathophysiological and clinical update.Endocrine · 2012Review
- Regulation of magnesium balance: lessons learned from human genetic disease.Clinical kidney journal · 2012Article
- Magnesium basics.Clinical kidney journal · 2012Article
- Clinical utility gene card for: Gitelman syndrome.European journal of human genetics : EJHG · 2011Article
- Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.Pediatric nephrology (Berlin, Germany) · 2011Article
- trpm7 regulation of in vivo cation homeostasis and kidney function involves stanniocalcin 1 and fgf23.Endocrinology · 2010Article
- Early appearance of hypokalemia in Gitelman syndrome.Pediatric nephrology (Berlin, Germany) · 2010Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The kidney plays an important role in ion homeostasis in the human body. Several hereditary disorders characterized by perturbations in renal magnesium reabsorption leading to hypomagnesemia have been described over the past 50 years, with the most important of these being Gitelman syndrome, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, familial hypomagnesemia with secondary hypocalcemia, autosomal dominant hypomagnesemia with hypocalciuria, and autosomal recessive hypomagnesemia. Only recently, following positional cloning strategies in affected families, have mutations in renal ion channels and transporters been identified in these diseases. In this short review, I give an update on these hypomagnesemic disorders. Elucidation of the genetic etiology and, for most of these disorders, also the underlying pathophysiology of the disease, has greatly increased our understanding of the normal physiology of renal magnesium handling. This is yet another example of the importance of studying rare disorders in order to unravel physiological and pathophysiological processes in the human body.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.