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Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Authors
 Daniela Anne Braun  ;  Jennifer Ashley Lawson  ;  Heon Yung Gee  ;  Jan Halbritter  ;  Shirlee Shril  ;  Weizhen Tan  ;  Deborah Stein  ;  Ari J. Wassner  ;  Michael A. Ferguson  ;  Zoran Gucev  ;  Brittany Fisher  ;  Leslie Spaneas  ;  Jennifer Varner  ;  John A. Sayer  ;  Danko Milosevic  ;  Michelle Baum  ;  Velibor Tasic  ;  Friedhelm Hildebrandt 
Citation
 CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol.11(4) : 664-672, 2016 
Journal Title
 CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 
ISSN
 1555-9041 
Issue Date
2016
MeSH
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Mutation* ; Nephrocalcinosis/epidemiology ; Nephrocalcinosis/genetics* ; Nephrolithiasis/epidemiology ; Nephrolithiasis/genetics* ; Prevalence
Keywords
Europe ; child ; exons ; genes, dominant ; genetic renal disease ; humans ; hypercalciuria ; kidney stones ; mutation ; nephrocalcinosis
Abstract
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.
Full Text
http://cjasn.asnjournals.org/content/11/4/664
DOI
10.2215/CJN.07540715
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/146721
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