Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period wit...Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period with neurological symptoms, including generalized seizures, which are refractory to anticonvulsant treatment. In this disorder, the basic abnormality is the defective intestinal absorption of magnesium. Mutations in TRPM6, the gene encoding the transient receptor potential cation channel subfamily member 6 have been found to be responsible for this disease. We report on a four-month-old Tunisian girl who presented with convulsions. Laboratory evaluation yielded extremely low serum magnesium levels, low calcium levels, and abnormal PTH levels. The diagnosis of HSH was confirmed by mutation analysis which identified the novel mutation c.1307A >G in exon 11 of TRPM6 (Lys436Arg). Our patient was homozygous for this mutation. Prenatal diagnosis was done during second pregnancy. DNA from trophoblast biopsy showed the same mutation as the proband.展开更多
The TRPM6 gene is associated with multifactorial diseases:diabetes mellitus,obesity,hypertension,components of the metabolic syndrome.The aim of this study is to test the association between TRPM6 rs2274924 gene,metab...The TRPM6 gene is associated with multifactorial diseases:diabetes mellitus,obesity,hypertension,components of the metabolic syndrome.The aim of this study is to test the association between TRPM6 rs2274924 gene,metabolic syndrome and S.aureus based on clinical data and biochemical,haematological,microbiological and genetic laboratory investigations in patients with type 2 diabetes mellitus.The TRPM6 gene sequencing was performed by the Advanced NGx assay based on clinical and laboratory data,on 152 subjects from Giurgiu County Emergency Hospital.The results were processed by the graph Pad prism 7 program,VMD.In conclusion,the TRPM6 rs2274924 gene is associated with metabolic syndrome and S.aureus.展开更多
文摘Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period with neurological symptoms, including generalized seizures, which are refractory to anticonvulsant treatment. In this disorder, the basic abnormality is the defective intestinal absorption of magnesium. Mutations in TRPM6, the gene encoding the transient receptor potential cation channel subfamily member 6 have been found to be responsible for this disease. We report on a four-month-old Tunisian girl who presented with convulsions. Laboratory evaluation yielded extremely low serum magnesium levels, low calcium levels, and abnormal PTH levels. The diagnosis of HSH was confirmed by mutation analysis which identified the novel mutation c.1307A >G in exon 11 of TRPM6 (Lys436Arg). Our patient was homozygous for this mutation. Prenatal diagnosis was done during second pregnancy. DNA from trophoblast biopsy showed the same mutation as the proband.
文摘The TRPM6 gene is associated with multifactorial diseases:diabetes mellitus,obesity,hypertension,components of the metabolic syndrome.The aim of this study is to test the association between TRPM6 rs2274924 gene,metabolic syndrome and S.aureus based on clinical data and biochemical,haematological,microbiological and genetic laboratory investigations in patients with type 2 diabetes mellitus.The TRPM6 gene sequencing was performed by the Advanced NGx assay based on clinical and laboratory data,on 152 subjects from Giurgiu County Emergency Hospital.The results were processed by the graph Pad prism 7 program,VMD.In conclusion,the TRPM6 rs2274924 gene is associated with metabolic syndrome and S.aureus.
