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Kidney Week

Abstract: SA-PO624

Nephrocalcinosis in Children: Clinical Outcomes According to Underlying Diseases

Session Information

  • Pediatric Nephrology - II
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1800 Pediatric Nephrology

Authors

  • Joung, Jinwoon, Samsung Medical Center, Gangnam-gu, Korea (the Republic of)
  • Cho, Heeyeon, Samsung Medical Center, Gangnam-gu, Korea (the Republic of)
Background

Nephrocalcinosis (NC) is defined as calcium deposits in renal tubules and interstitium. Often detected as an incidental finding, NC have been suggested to be caused by factors such as prematurity, metabolic and monogenic disorders. Recently, there was a few reports that NC might be a specific finding of hereditary renal disease of various outcomes. This study aimed to evaluate the risk factors and underlying diseases including genetic causes and assess clinical outcomes of Korean children with NC.

Methods

Total 256 children who visited Samsung Medical Center from January 2017 to December 2021 with a confirmative or suspected diagnosis of NC at age under 18 using ultrasonography were enrolled. Medical records including sex, gestational age, underlying disease, medication history, genetic analysis, and ultrasonography were retrospectively reviewed.

Results

Male to female ratio was 0.9:1 and the average age at first diagnosis of NC was 598.4 days after birth. One hundred eighty-one children (70.7%) were born as prematurity. Underlying disease of bronchopulmonary dysplasia (BPD) and patent ductus arteriosus (PDA) were found in 34.7 % and 25.0%, respectively. Each of 143 (55.8 %) and 107 (41.7%) of patients had medication history of furosemide and vitamin D. Incidence of BPD, PDA and taking vitamin D were remarkably high in premature group comparing with full term group. Among 142 children in whom the follow-up data were available, NC was spontaneously resolved over time averaging to 310 days in 96 children (67.6 %). Progression to chronic kidney disease (CKD) was noted in 8 (3.1%) patients. For 44 patients without the clinical risk factors, genetic studies were performed and 20 pathogenic variants including HNF1B, SLC25A13, and PKHD1 were detected in 22 children. Among the 22 showing genetic mutations, 2 patients with HNF1B and CFH mutation progressed to CKD.

Conclusion

The majority of current study group had histories highly relevant with preterm birth and most of them showed spontaneous resolution of NC within a year. On the other hand, full-term born children without the known risk factors were more likely to have genetic causes and to develop CKD. Therefore, our study suggests that although the children with NC present the favorable outcomes, regular follow-up and genetic analysis are necessary for the patients without the clinical risk factors.