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.

[Treatment with human recombinant erythropoietin and frequency of retinopathy of prematurity]. / Leczenie preparatami ludzkiej rekombinowanej erytropoetyny a czestosc retinopatii u noworodków przedwczesnie urodzonych.

The aim of our study was to assess frequency of ROP in VLBW and ELBW treated with rhEPO in preventing anemia. In 36 newborns with birth weight 480 to 1490 g (median 1032 g) and 24 to 32 weeks of gestational age (median 28.0 weeks) we have estimated concentration of cord erythropoietin. According this concentration we have divided our material into two groups. In first group of 22 newborns with cord concentration of EPO < 10 mU/ml we started early erythropoietin (rhEPO) therapy which was continued by 6 weeks. Second group of 14 no early usage newborns had cord EPO concentration > 10 mU/ml. In second group the control level of serum EPO was measured in 15th day of life. In newborns from second group in which the EPO concentration during two weeks decreased below 10 mU/ml we started to use rhEPO as a late usage. First oculistic consultation took place in the 5th week of life according to the screening performed in our country. In the first group (n = 22) with early EPO treatment retinopathy was recognized in 15 preterm newborns (68.2%). Eight of them (53.3%) had advanced form of retinopathy ROP (III lub III+) and were undergone a laserotherapy. In the group of late usage of rhEPO (n = 14) 8 newborns (57.1%) had signs of retinopathy, but only 3 of them (37.5%) required laserotherapy because of advanced form of ROP (III lub III+).