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      Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

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          Abstract

          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.

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          Author and article information

          Journal
          Clin J Am Soc Nephrol
          Clinical journal of the American Society of Nephrology : CJASN
          American Society of Nephrology (ASN)
          1555-905X
          1555-9041
          Apr 07 2016
          : 11
          : 4
          Affiliations
          [1 ] Division of Nephrology, Department of Medicine and.
          [2 ] Division of Nephrology, Department of Medicine and Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea;
          [3 ] Division of Nephrology, Department of Medicine and Division of Endocrinology/Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany;
          [4 ] Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;
          [5 ] Department of Pediatric Nephrology, Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia;
          [6 ] Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom;
          [7 ] Department of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia; and.
          [8 ] Division of Nephrology, Department of Medicine and Howard Hughes Medical Institute, Chevy Chase, Maryland friedhelm.hildebrandt@childrens.harvard.edu.
          Article
          CJN.07540715
          10.2215/CJN.07540715
          4822665
          26787776
          114e699a-e453-4be6-9b12-c3d74e905949
          History

          Europe,child,exons,genes, dominant,genetic renal disease,humans,hypercalciuria,kidney stones,mutation,nephrocalcinosis

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