Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis
Author(s) -
Daniela A. Braun,
Jennifer A. Lawson,
Heon Yung Gee,
Jan Halbritter,
Shirlee Shril,
Weizhen Tan,
Deborah R. Stein,
Ari J. Wassner,
Michael A. Ferguson,
Zoran Gucev,
Brittany Fisher,
Leslie Spaneas,
Jennifer D. Varner,
John A. Sayer,
Danko Milošević,
Michelle A. Baum,
Velibor Tasić,
Friedhelm Hildebrandt
Publication year - 2016
Publication title -
clinical journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.755
H-Index - 151
eISSN - 1555-905X
pISSN - 1555-9041
DOI - 10.2215/cjn.07540715
Subject(s) - nephrocalcinosis , medicine , cohort , kidney stones , pediatrics , primary hyperoxaluria , kidney
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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