PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypocalcemia |
| Symptom | C0151723|hypomagnesemia |
| Sentences | 30 |
| PubMedID- 22982920 | Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel trpm6 gene mutation. |
| PubMedID- 26273099 | Primary hypomagnesemia with secondary hypocalcemia (hsh) is an autosomal recessive disease characterized by reduced intestinal absorption and renal reabsorption of magnesium (5). |
| PubMedID- 21420431 | Non-functional mutations of trpm6 are responsible for a primary disorder termed hypomagnesemia with secondary hypocalcemia (schlingmann et al., 2002; voets et al., 2004). |
| PubMedID- 20395377 | Loss-of-function mutations in trpm6 are a molecular cause of hypomagnesemia with secondary hypocalcemia, suggesting that trpm6 is critically involved in transcellular mg2+ transport in the kidney. |
| PubMedID- 26064102 | The cases of two patients developing severe hypomagnesemia along with hypocalcemia and hypokalemia while being on long-term treatment with a proton-pump inhibitor and resolution after withdrawal were first described in 2006 2. |
| PubMedID- 21886637 | hypomagnesemia is often associated with hypocalcemia and may contribute to signs of tetany with weakness. |
| PubMedID- 19789154 | Objective: to present a unique case of transient, asymptomatic chemotherapy-induced hypocalcemia not attributable to hypomagnesemia or tumor lysis syndrome and review causes of hypocalcemia related to cancer with and without use of chemotherapy. |
| PubMedID- 20700443 | Rare mutations in trpm6 are a cause of autosomal recessive hypomagnesemia with secondary hypocalcemia (omim #602014) , . |
| PubMedID- 24985022 | Background: trpm6 gene mutation has been reported to cause hypomagnesemia with secondary hypocalcemia (hsh). |
| PubMedID- 20932259 | In addition, mutations in the trpm6 gene constitute the underlying genetic defect in hypomagnesemia with secondary hypocalcemia, a rare autosomal-recessive disease characterized by low serum magnesium accompanied by hypocalcemia. |
| PubMedID- 26121732 | Background: familial hypomagnesemia with secondary hypocalcemia is a genetic disorder of magnesium metabolism that presents with refractory seizures in infancy. |
| PubMedID- 22394705 | hypomagnesemia is often associated with hypocalcemia due to both lower pth secretion and end-organ resistance. |
| PubMedID- 24756719 | Loss-of-function mutations in the human trpm6 gene give rise to hypomagnesemia with secondary hypocalcemia (hsh), suggesting that the trpm6 channel kinase plays a central role in systemic mg(2+) homeostasis. |
| PubMedID- 25491348 | Conclusion: hypomagnesemia is significantly associated with early hypocalcemia and permanent hypoparathyroidism after thyroidectomy. |
| PubMedID- 21340151 | Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, liddle syndrome, bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, dent's disease, hypomagnesemia with secondary hypocalcemia, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis. |
| PubMedID- 20463899 | The hypomagnesemia with secondary hypocalcemia (hsh) result in neurological problems, including seizures, which can be ameliorated by high doses of dietary mg2+ , . |
| PubMedID- 20012461 | Finally, mutations in trpm6 cause familial hypomagnesemia with secondary hypocalcemia, a disease characterized by defects in renal and intestinal ca2+ and mg2+ absorption which progresses despite the expression of trpm7 in both the kidney and intestine . |
| PubMedID- 23942199 | Mutations in the trpm6 gene, encoding the epithelial mg(2+) channel trpm6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (hsh; omim 602014). |
| PubMedID- 21594582 | Chronic hypomagnesemia is closely associated with hypocalcemia, which is caused by impaired parathyroid hormone (pth) secretion or the refractoriness of bone and renal tubules to pth. |
| PubMedID- 23689795 | Background: familial hypomagnesemia with secondary hypocalcemia (hsh) is a rare autosomal recessive disease characterized by severe hypomagnesemia and hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms, which are refractory to anticonvulsant treatment. |
| PubMedID- 25542231 | Human trpm6 also give rise to hypomagnesemia with secondary hypocalcemia (hsh) . |
| PubMedID- 25774985 | Loss-of-function mutations of trpm6 cause intestinal mg2+ malabsorption and renal mg2+ wasting, as evidenced in patients suffering from hypomagnesemia with secondary hypocalcemia (hsh, omim #602014) . |
| PubMedID- 24171002 | Another differential diagnosis for hypomagnesemia with hypocalcemia includes hypomagnesemia with secondary hypocalcemia (hsh). |
| PubMedID- 20684172 | Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel gkds which were characterized in this area and include bartter syndrome type iv, type ii bartter syndrome and transient neonatal hyperkalemia, cystinuria and mental retardation, familial hypomagnesemia with secondary hypocalcemia, infantile nephronophthisis and familial hemolytic uremic syndrome with factor h deficiency. |
| PubMedID- 20814221 | Background: hypomagnesemia with secondary hypocalcemia is due to disturbed renal and intestinal magnesium (mg(2+)) (re)absorption. |
| PubMedID- 24339795 | Another key molecule is trpm6; mutations of trpm6 cause recessive hypomagnesemia with secondary hypocalcemia . |
| PubMedID- 21448411 | Papaioannou a et al has reported a female diabetic patient with laryngospasm associated with hypomagnesemia, probably due to hypomagnesemia induced hypocalcemia (13). |
| PubMedID- 24578711 | Familial hypomagnesemia with secondary hypocalcemia (hsh) is an autosomal-recessive disorder resulting from mutations in trpm6, the gene that encodes the trpm6 channel. |
| PubMedID- 24322525 | After the trpms, additional mutations involved in familial hypomagnesemia (with or without hypocalcemia or hypercalciuria), such as mutations in cldn16 and cldn19 (which encode tight junction proteins claudin-16 and claudin-19 and regulate aspects of ion reabsorption in the kidney) , mutations in the solute carrier families 12 (slc12a3—encoding a sodium/choride transporter) and 41 (slc41a1 and slc41a2—which mediate magnesium transport across membranes; interestingly the former is the only magnesium-responsive gene overexpressed in placental tissue of preeclamptic women ), magnesium transporter protein 1 (magt1—another magnesium transporter; implicated in immune activation), among others. |
| PubMedID- 23632281 | Chi(2) analysis was conducted to investigate the association of ppi-associated hypomagnesemia with hypocalcemia and hypokalemia. |
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