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10.2215/CJN.07540715 http://scihub22266oqcxt.onion/10.2215/CJN.07540715 C4822665!4822665!26787776     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 2016 ; 11 (4): 664-72 Nephropedia Template TP {{tp|p=26787776|t=2016. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis |pdf=|usr=}}{{26787776}} gab.com Text Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis JO: Clin J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=26787776 #FOAvip Background and objectives: Nephrolithiasis is a prevalent condition that affects 10%?15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied. Design, setting, participants, & measurements: To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation. Results: We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent. Conclusions: We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis. Twit Text FOAVip Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis ????Clin J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=26787776 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26787776 #FOAvip English Wikipedia <ref>{{Cite pmid|26787776}}</ref> Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis #MMPMID26787776 Braun DA; Lawson JA; Gee HY; Halbritter J; Shril S; Tan W; Stein D; Wassner AJ; Ferguson MA; Gucev Z; Fisher B; Spaneas L; Varner J; Sayer JA; Milosevic D; Baum M; Tasic V; Hildebrandt F Clin J Am Soc Nephrol 2016[Apr]; 11 (4): 664-72 PMID26787776show ga Background and objectives: Nephrolithiasis is a prevalent condition that affects 10%?15% of adults in their lifetime. It is associated with high morbidity due to colicky pain, the necessity for surgical intervention, and sometimes progression to CKD. In recent years, multiple monogenic causes of nephrolithiasis and nephrocalcinosis have been identified. However, the prevalence of each monogenic gene in a pediatric renal stone cohort has not yet been extensively studied. Design, setting, participants, & measurements: To determine the percentage of cases that can be explained molecularly by mutations in one of 30 known nephrolithiasis/nephrocalcinosis genes, we conducted a high-throughput exon sequencing analysis in an international cohort of 143 individuals <18 years of age, with nephrolithiasis (n=123) or isolated nephrocalcinosis (n=20). Over 7 months, all eligible individuals at three renal stone clinics in the United States and Europe were approached for study participation. Results: We detected likely causative mutations in 14 of 30 analyzed genes, leading to a molecular diagnosis in 16.8% (24 of 143) of affected individuals; 12 of the 27 detected mutations were not previously described as disease causing (44.4%). We observed that in our cohort all individuals with infantile manifestation of nephrolithiasis or nephrocalcinosis had causative mutations in recessive rather than dominant monogenic genes. In individuals who manifested later in life, causative mutations in dominant genes were more frequent. Conclusions: We present the first exclusively pediatric cohort examined for monogenic causes of nephrolithiasis/nephrocalcinosis, and suggest that important therapeutic and preventative measures may result from mutational analysis in individuals with early manifestation of nephrolithiasis or nephrocalcinosis. äPrevalence of Monogenic Causes in Pediatric Patients with Nephrolithia(epmc).pdf DeepDyve Pubget Overpricing