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Abstract: PO2272

Monogenic Causes of Nephrolithiasis or Nephrocalcinosis in Korean Children

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology


  • Kim, Jeong yeon, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea (the Republic of)
  • Lee, Beomhee, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea (the Republic of)
  • Cho, Heeyeon, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea (the Republic of)

Nephrolithiasis (NL) or nephrocalcinosis (NC) can be the early manifestation of hereditary nephropathy in children and early detection of hereditary nephropathy gives us chance to provide therapeutic and preventative intervention. In this study, we present genetic characteristics of NL/NC in pediatric patients who were treated in tertiary medical center in Korea.


The medical records of pediatric patients (age of 0-18 year) who had NC/NL and underwent genetic test under suspicion of hereditary nephropathy from March of 2013 to January of 2020 in Samsung Medical Center in Korea were reviewed. When specific disease was suspected, the sanger sequencing was done. The whole exome sequencing was performed when suspected mutations were not detected in sanger sequencing or when the disease could not be specified. DNA was extracted from whole blood or saliva. The novel mutations were evaluated by clinical findings and bioinformatics analysis such as in silico prediction.


Total 20 patients underwent genetic test and two of them were sibling. The median age at the time of NC/NL detection was 4.8 year and male was predominant (M/F=2.3). Genetic diagnosis was done at the median age of 5.5 year. Three patients had family history of NC/NL (15%). Total 13 pathogenic gene mutations were detected in 16 patients (80%); 5 genes (SCL3A1, GRHPR, CLCN5, OCRL1, CLCNKB) were known to cause monogenic forms of NL/NC and 8 genes (PAX2, PKD1, HNF1B, SCN11A, SLC36A2, BUB1B, VPS33B, PHEX) were not. Three pathogenic autosomal recessive mutations were detected in 3 individuals; BUB1B (n=1), GRHPR (n=1), VPS33B (n=1). We also detected pathogenic mutations in 6 autosomal dominant genes in 7 individuals; CLCNKB (n=1), SLC3A1 (n=1), PAX2 (n=1), HNF1B (n=2), SCN11A (n=1), PKD1 (n=1), SLC36A2 (n=1). Two X-linked recessive genes were detected in 5 individuals; CLCN5 (n=4), OCRL1 (n=1). In one patient, X-linked dominant gene was detected; PHEX. Eight of 16 detected mutations (50%) were novel mutation that have not been previously reported in database of human disease causing mutation.


In conclusion, NL/NC can be the clue to detect monogenic cause of hereditary nephropathy in children. Further large population study is needed to evaluate NL/NC as indicator for genetic analysis to detect monogenic hereditary nephropathy in children.