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Page 1
Hypomagnesemia with Secondary Hypocalcemia (HSH): a Case Report.
Zhao C, Lin Y, Jiang Z. Zhao C, et al. Clin Lab. 2023 Oct 1;69(10). doi: 10.7754/Clin.Lab.2023.230505. Clin Lab. 2023. PMID: 37844054
BACKGROUND: Hypomagnesemia with secondary hypocalcemia (HSH) is a genetic disorder arising from the body's impaired capacity to absorb and retain magnesium (Mg2+) consumed through diet. ...
BACKGROUND: Hypomagnesemia with secondary hypocalcemia (HSH) is a genetic disorder arising from the body's impai …
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramírez A, Fraga-Rodríguez GM, Luis-Yanes MI, Ramos-Trujillo E; Grupo RenalTube. Garcia-Nieto VM, et al. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):23-31. doi: 10.1016/j.nefroe.2024.02.003. Epub 2024 Feb 12. Nefrologia (Engl Ed). 2024. PMID: 38350738 Free article. Review.
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia …
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies …
Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.
Kamali F, Jamee M, Sayer JA, Sadeghi-Bojd S, Golchehre Z, Dehghanzad R, Keramatipour M, Mohkam M. Kamali F, et al. CEN Case Rep. 2023 Nov;12(4):413-418. doi: 10.1007/s13730-023-00785-8. Epub 2023 Mar 26. CEN Case Rep. 2023. PMID: 36967423 Free PMC article. Review.
Patients with biallelic TRPM6 pathogenic variants typically exhibit hypomagnesemia with secondary hypocalcemia and present with neurologic manifestations including seizures. ...
Patients with biallelic TRPM6 pathogenic variants typically exhibit hypomagnesemia with secondary hypocalcemia a …
Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia.
Bayramoğlu E, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S. Bayramoğlu E, et al. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):300-307. doi: 10.4274/jcrpe.galenos.2021.2020.0192. Epub 2021 Feb 10. J Clin Res Pediatr Endocrinol. 2021. PMID: 33565749 Free PMC article.
OBJECTIVE: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by a mutation in the transient receptor potential melastatin 6 (TRPM6) gene and is characterized by selective magnesium malabsorption. ...
OBJECTIVE: Familial hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disease caused by …
Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.
Srinivasan R, Ninama AC, Krishna S, Vasudevan A. Srinivasan R, et al. CEN Case Rep. 2023 May;12(2):139-145. doi: 10.1007/s13730-022-00734-x. Epub 2022 Sep 21. CEN Case Rep. 2023. PMID: 36131192 Free PMC article.
Its deficiency can present as neurological, cardiac and skeletal symptoms. Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive genetic disease caused by a transient receptor potential melastatin 6 gene pathogenic variant ( …
Its deficiency can present as neurological, cardiac and skeletal symptoms. Familial hypomagnesemia with secondary hy …
Charting a TRP to Novel Therapeutic Destinations for Kidney Diseases.
Pablo JL, Greka A. Pablo JL, et al. Trends Pharmacol Sci. 2019 Dec;40(12):911-918. doi: 10.1016/j.tips.2019.10.001. Epub 2019 Nov 5. Trends Pharmacol Sci. 2019. PMID: 31704171 Free PMC article. Review.
Human genetics point to three additional TRP channels as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, and TRPM6 in familial hypomagnesemia with secondary hypocalcemia (HSH). We conclude that targeting TRP channels co …
Human genetics point to three additional TRP channels as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, an …
A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia.
Wang P, Qian Y, Gu C, Zhi X, Pu L, Yan D, Shu J, Lv L, Cai C. Wang P, et al. Clin Chim Acta. 2021 Dec;523:469-475. doi: 10.1016/j.cca.2021.10.033. Epub 2021 Oct 28. Clin Chim Acta. 2021. PMID: 34755648
INTRODUCTION: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by biallelic variants in TRPM6 gene. ...
INTRODUCTION: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease cau …
Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene.
Dokurel Çetin İ, Betül Gerik-Çelebi H, Demiral M, Çetin O. Dokurel Çetin İ, et al. J Pediatr Endocrinol Metab. 2023 Dec 13;37(2):184-188. doi: 10.1515/jpem-2023-0378. Print 2024 Feb 26. J Pediatr Endocrinol Metab. 2023. PMID: 38084506
OBJECTIVES: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (TRPM6) genes, is a rare hereditary cause of extremely low serum magnesium levels. ...
OBJECTIVES: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the tr …
A Nonredundant Role for the TRPM6 Channel in Neural Tube Closure.
Komiya Y, Bai Z, Cai N, Lou L, Al-Saadi N, Mezzacappa C, Habas R, Runnels LW. Komiya Y, et al. Sci Rep. 2017 Nov 15;7(1):15623. doi: 10.1038/s41598-017-15855-y. Sci Rep. 2017. PMID: 29142255 Free PMC article.
In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disorder. Loss of Trpm6 in mice also perturbs cellular magnesium homeostasis but additionally results in early embryonic lethality and neural tub …
In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disor …
17 results