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10.3390/ijms19030812 http://scihub22266oqcxt.onion/10.3390/ijms19030812 C5877673!5877673!29534496     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Int+J+Mol+Sci 2018 ; 19 (3): ä Nephropedia Template TP {{tp|p=29534496|t=2018. Liddle Syndrome: Review of the Literature and Description of a New Case |pdf=|usr=}}{{29534496}} gab.com Text Liddle Syndrome: Review of the Literature and Description of a New Case JO: Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=29534496 #FOAvip Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the ?, ?, and ?-subunits of the epithelial Na+ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution. Twit Text FOAVip Liddle Syndrome: Review of the Literature and Description of a New Case ????Int J Mol Sci http://www.kidney.de/pget.php?&tw=1&pmid=29534496 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29534496 #FOAvip English Wikipedia <ref>{{Cite pmid|29534496}}</ref> Liddle Syndrome: Review of the Literature and Description of a New Case #MMPMID29534496 Tetti M; Monticone S; Burrello J; Matarazzo P; Veglio F; Pasini B; Jeunemaitre X; Mulatero P Int J Mol Sci 2018[Mar]; 19 (3): ä PMID29534496show ga Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the ?, ?, and ?-subunits of the epithelial Na+ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution. äLiddle Syndrome: Review of the Literature and Description of a New Cas(epmc).pdf DeepDyve Pubget Overpricing