Genetic disorders – Development
Kidney International (2003) 64, 17–24; doi:10.1046/j.1523-1755.2003.00066.x
Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: Evidence of locus on chromosome 13q
Abhay N Vats, Chandra Ishwad, Kalyani R Vats, Michael Moritz, Demetrius Ellis, Christine Mueller, Urvashi Surti, Maria Z Parizhskaya, Manuel P Meza, Leah Burke, Francis X Schneck, Malika Saxena and Robert Ferrell
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania; Department of Reproductive Biology, Magee Women's Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Department of Pathology, Magee Women's Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Department of Radiology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania; Division of Medical Genetics, Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont; and Department of Urology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
Correspondence: Abhay N. Vats, M.D., Department of Pediatrics, Division of Pediatric Nephrology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213. E-mail: abhay.vats@chp.edu
Received 8 October 2002; Revised 11 December 2002; Re-revised 29 January 2003; Accepted 28 February 2003.
Abstract
Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: Evidence of locus on chromosome 13q.
Background
Steroid-resistant nephrotic syndrome (SRNS) and congenital anomalies of kidney and urinary tract (CAKUT) are major causes of renal dysfunction in children. Although a few patients with 13q deletion have been previously reported with renal anomalies, the association of SRNS with 13q has not been reported and critical regions associated with CAKUT have not been identified. We present the results of deletion mapping studies to identify the critical regions.
Methods
Cytogenetic and deletion mapping studies were performed on DNA obtained from peripheral blood of two children with renal anomalies and interstitial deletion of 13q as well as their parents. Twenty eight microsatellite markers with a spacing of 1-8 Mb (1-3 cM) were utilized.
Results
The patients (both males, 5 and 10 years old) had varying severity of developmental delay and other neurologic disorders. The renal involvement included hydronephrosis, ureterocele, renal dysplasia, and mesangioproliferative SRNS. Our studies imply existence of at least two critical regions in the 13q area that are linked to CAKUT. The first is a 7 Mb region defined by markers D13S776 and D13S891 shared by both patients. The second is a much larger region extending at least 33 Mb above D13S776 seen in one patient with severe renal malformations and SRNS.
Conclusion
We report an association of chromosome 13q with CAKUT as well as SRNS. Our studies suggest the presence of more than one gene in this region that is likely to be involved in renal development and function.
Keywords:
13q deletion, CAKUT, steroid-resistant nephrotic syndrome, renal anomalies, ureteropelvic junction obstruction
