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10.4103/1319-2442.100945 http://scihub22266oqcxt.onion/10.4103/1319-2442.100945 22982920!ä!22982920 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 243.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Saudi+J+Kidney+Dis+Transpl 2012 ; 23 (5): 1038-42 Nephropedia Template TP {{tp|p=22982920|t=2012. Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation |pdf=|usr=}}{{22982920}} gab.com Text Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation JO: Saudi J Kidney Dis Transpl http://www.kidney.de/pget.php?&tw=1&pmid=22982920 #FOAvip Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. However, further biochemical analysis of blood and urine were suggestive of HSH. This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRPM6 gene. A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC). Her serum calcium and the BGC improved with magnesium replacement. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents. Twit Text FOAVip Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation ????Saudi J Kidney Dis Transpl http://www.kidney.de/pget.php?&tw=1&pmid=22982920 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22982920 #FOAvip English Wikipedia <ref>{{Cite pmid|22982920}}</ref> Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation #MMPMID22982920 Habeb AM; Al-Harbi H; Schlingmann KP Saudi J Kidney Dis Transpl 2012[Sep]; 23 (5): 1038-42 PMID22982920show ga Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a rare condition caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Patients usually present during early infancy with symptomatic hypocalcemia; however, intracranial calcification has not been previously reported in HSH. We report on a three-month-old Saudi girl who presented with hypocalcemic convulsions and was initially treated as nutritional rickets. However, further biochemical analysis of blood and urine were suggestive of HSH. This diagnosis was confirmed by mutation analysis, which identified a novel homozygous frame shift mutation (ins 2999T) of the TRPM6 gene. A computed tomography brain scan, done around the time of diagnosis, identified bilateral basal ganglia calcification (BGC). Her serum calcium and the BGC improved with magnesium replacement. BGC can be added as a new feature of HSH and the case highlights the importance of measuring serum Mg in patients with hypocalcemic convulsions, particularly in children of consanguineous parents. |*Frameshift Mutation[MESH] |Basal Ganglia Diseases/diagnosis/*genetics/therapy[MESH] |Biomarkers/blood[MESH] |Calcinosis/diagnosis/*genetics/therapy[MESH] |DNA Mutational Analysis[MESH] |Female[MESH] |Genetic Predisposition to Disease[MESH] |Homozygote[MESH] |Humans[MESH] |Hypocalcemia/blood/complications/diagnosis/*genetics[MESH] |Infant[MESH] |Magnesium Deficiency/congenital[MESH] |Magnesium Sulfate/administration & dosage[MESH] |Magnesium/blood[MESH] |Phenotype[MESH] |Renal Tubular Transport, Inborn Errors/blood/complications/diagnosis/*genetics[MESH] |Seizures/genetics[MESH] |TRPM Cation Channels/*genetics[MESH] |Tomography, X-Ray Computed[MESH]Resolving basal ganglia calcification in hereditary hypomagnesemia wit(epmc).pdf DeepDyve Pubget Overpricing