I read with interest the comprehensive article by Kerecuk et al. in the June issue of Nature Clinical Practice Nephrology.1 I was surprised by the absence of mention of the 22q11.2 microdeletion syndrome as a cause of renal tract malformations. The 22q11.2 microdeletion syndrome (OMIM #188400), also known as DiGeorge syndrome, is the most frequent deletion syndrome in humans (incidence of 1 in 4,0002), and can involve the genitourinary tract. In total, 36% of affected patients have abnormal kidneys,2 so 22q11.2 microdeletion syndrome is responsible for renal malformation in 1 in 12,000 births. In pediatric series,2,3,4 hypoplasia or agenesis of the kidney is the most common feature (17%), multicystic dysplasia can be found, obstruction is frequent (10%), and vesicoureteral reflux (4%) can be also present. In an adult cohort,5 the frequency of renal failure was 10%. The frequency of end-stage renal disease is unknown. In this adult series, the most common abnormalities were hydronephrosis (7.7%) and kidney agenesis (6%); no cystic kidney disease was described.5
Diagnosis of 22q11.2 microdeletion syndrome should be considered in patients with malformation of the kidney. Dysmorphia, abnormal voice, cardiac malformations or hypoparathyroidism are clues to the diagnosis. The molecular basis of the renal malformation is unknown; deletion of one or more genes could be responsible. The 22q11.2 microdeletion syndrome is a frequent cause of kidney malformation and should be recognized as such.
References
Kerecuk L et al. (2008) Renal tract malformations: perspectives for nephrologists. Nat Clin Pract Nephrol 4: 312–325
Kobrynski LJ and Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370: 1443–1452
Kujat A et al. (2006) Renal malformations in deletion 22q11.2 patients. Am J Med Genet A 140: 1601–1602
Wu HY et al. (2002) Genitourinary malformations in chromosome 22q11.2 deletion. J Urol 168: 2564–2565
Bassett AS et al. (2005) Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 138: 307–313
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Burtey, S. 22q11.2 microdeletion syndrome is a common cause of renal tract malformations. Nat Rev Nephrol 4, E1 (2008). https://doi.org/10.1038/ncpneph0906
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DOI: https://doi.org/10.1038/ncpneph0906