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.


CONCLUSIONS
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.
Vats
Abhay N
AN
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA. abhay.vats@chp.edu
Ishwad
Chandra
C
Vats
Kalyani R
KR
Moritz
Michael
M
Ellis
Demetrius
D
Mueller
Christine
C
Surti
Urvashi
U
Parizhskaya
Maria Z
MZ
Meza
Manuel P
MP
Burke
Leah
L
Schneck
Francis X
FX
Saxena
Malika
M
Ferrell
Robert
R
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D020732:Cytogenetic Analysis; D004351:Drug Resistance; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D013256:Steroids / Q000627:therapeutic use*; D014463:Ultrasonography; D014551:Urinary Tract / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014567:Urography
D013256:Steroids