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10.2215/CJN.02870310 http://scihub22266oqcxt.onion/10.2215/CJN.02870310 21030577!3052226!21030577     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       Clin+J+Am+Soc+Nephrol 2011 ; 6 (2): 355-60 Nephropedia Template TP {{tp|p=21030577|t=2011. Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations |pdf=|usr=}}{{21030577}} gab.com Text Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations JO: Clin J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=21030577 #FOAvip BACKGROUND AND OBJECTIVES: The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Medical records of three patients from two French unrelated families with CLDN19 mutations were retrospectively examined. RESULTS: Direct sequencing of CLDN19 identified a known variant (p.Gly20Asp) in all patients and a new missense mutation (p.Val44Met) in one (compound heterozygous). The patients' renal phenotype closely mimicked CLDN16-related nephropathy: low serum Mg2+ (<0.65 mmol/L) despite oral supplementation, hypercalciuria partly thiazide-sensitive, and progressive renal decline with ESRD reached at age 16 and 22 years in two individuals. Primary characteristics (failure to thrive, recurrent urinary tract infections, or abdominal pain), age at onset (0.8 to 16 years), and rate of renal decline were highly heterogeneous. Ocular involvement was identified in all patients, although two patients did not have visual loss. Additionally, exercise intolerance with pain, weakness, and electromyographical alterations mimicking a Ca2+/K+ channelopathy (pattern V) were observed in two of three individuals. These features persisted despite the normalization of serum K+ and Mg2+ after renal transplantation. CONCLUSIONS: Ocular manifestations, even subtle, and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that need to be searched for in patients with FHHNC and may indicate CLDN19 mutations. Twit Text FOAVip Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations ????Clin J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=21030577 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21030577 #FOAvip English Wikipedia <ref>{{Cite pmid|21030577}}</ref> Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations #MMPMID21030577 Faguer S; Chauveau D; Cintas P; Tack I; Cointault O; Rostaing L; Vargas-Poussou R; Ribes D Clin J Am Soc Nephrol 2011[Feb]; 6 (2): 355-60 PMID21030577show ga BACKGROUND AND OBJECTIVES: The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Medical records of three patients from two French unrelated families with CLDN19 mutations were retrospectively examined. RESULTS: Direct sequencing of CLDN19 identified a known variant (p.Gly20Asp) in all patients and a new missense mutation (p.Val44Met) in one (compound heterozygous). The patients' renal phenotype closely mimicked CLDN16-related nephropathy: low serum Mg2+ (<0.65 mmol/L) despite oral supplementation, hypercalciuria partly thiazide-sensitive, and progressive renal decline with ESRD reached at age 16 and 22 years in two individuals. Primary characteristics (failure to thrive, recurrent urinary tract infections, or abdominal pain), age at onset (0.8 to 16 years), and rate of renal decline were highly heterogeneous. Ocular involvement was identified in all patients, although two patients did not have visual loss. Additionally, exercise intolerance with pain, weakness, and electromyographical alterations mimicking a Ca2+/K+ channelopathy (pattern V) were observed in two of three individuals. These features persisted despite the normalization of serum K+ and Mg2+ after renal transplantation. CONCLUSIONS: Ocular manifestations, even subtle, and exercise intolerance mimicking mild to moderate periodic paralysis are two symptoms that need to be searched for in patients with FHHNC and may indicate CLDN19 mutations. |*Mutation[MESH] |Adolescent[MESH] |Claudins[MESH] |DNA Mutational Analysis[MESH] |Disease Progression[MESH] |Electromyography[MESH] |Exercise Tolerance[MESH] |Eye Diseases/diagnosis/*genetics/physiopathology/therapy[MESH] |Female[MESH] |France[MESH] |Genetic Predisposition to Disease[MESH] |Glomerular Filtration Rate[MESH] |Humans[MESH] |Infant[MESH] |Kidney Failure, Chronic/diagnosis/*genetics/physiopathology/therapy[MESH] |Magnesium Deficiency/complications/diagnosis/genetics/physiopathology/therapy[MESH] |Membrane Proteins/*genetics[MESH] |Muscle Strength[MESH] |Nephrocalcinosis/complications/diagnosis/genetics/physiopathology/therapy[MESH] |Neuromuscular Diseases/diagnosis/*genetics/physiopathology/therapy[MESH] |Phenotype[MESH] |Retrospective Studies[MESH] |Time Factors[MESH] |Vision Tests[MESH] |Vision, Ocular[MESH]Renal, ocular, and neuromuscular involvements in patients with CLDN19 (epmc).pdf DeepDyve Pubget Overpricing