Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of the article.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Glomerular filtration decrease after diagnostic cardiac catheterisation in children with congenital cardiac malformation - the role of serum creatinine, cystatin C, neutrophil gelatinase and urine output monitoring.

INTRODUCTION: Diagnosis of contrast induced-nephropathy (CIN) by a classic renal biomarker such as creatinine concentration can be delayed because of various factors that can influence this marker. Changes in new biomarkers such as neutrophil-gelatinase associated lipocalin (NGAL) and cystatin C are postulated to be more sensitive for recognizing patients prone to CIN-acute kidney injury (AKI). AIM: To investigate the role of NGAL and cystatin C as early biomarkers in the diagnosis of kidney injury after cardiac catheterisation. MATERIAL AND METHODS: The study group consisted of 50 patients with congenital heart malformation admitted for scheduled cardiac catheterisation. The biomarkers serum creatinine, serum NGAL and serum cystatin C were tested at 5 time-points sequentially from start to 48 h after the procedure. RESULTS: Significant changes were noted during the research in the serum creatinine concentration (p < 0.001) and serum NGAL concentration (p < 0.001). CIN-AKI, diagnosed by the modified Schwartz formula, occurred in 16 (32%) patients after 24 h and in 8 (16%) after 48 h. Subsequent analysis showed that serum creatinine significantly rose in the first 2 h of the study with simultaneous reduction in the eGFR. Maximum growth in serum NGAL occurred at 6 h after contrast administration and then returned to the baseline values at 24 h. Serum cystatin C level did not significantly change during the study. CONCLUSIONS: We observed a transient decrease in eGFR and a rise of serum NGAL after 2 h but NGAL was most pronounced at 6 h after the procedure. The potential role of cystatin C as a biomarker of CIN-AKI was not proved.