title: Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
abstract: A well-known association exists between the presence of a chromosome 22q11 micro-deletion and conotruncal heart malformations. Recently, there has been an increased appreciation of the expanded clinical phenotype associated with this chromosome abnormality. We performed a medical record review to evaluate the incidence of renal anomalies in a group of 15 patients ascertained in a single medical center over a 33-month period. Of the 15 patients, 13 had a renal sonogram performed. Five of 13 patients studied (38.4%) had a renal anomaly. The specific abnormalities identified included: bilateral duplex kidneys (1 patient), unilateral renal agenesis (1 patient), unilateral multicystic dysplastic kidneys (2 patients, including 1 ascertained prenatally), and bilateral, extremely small (less than 2 SD below mean) kidneys (1 patient). The incidence of renal anomalies in our patient population (38.4%) was higher than expected, and agrees with a recent European collaborative study. The present report and the European study both demonstrate a higher percentage of renal abnormalities than the 10% previously reported in the literature. Because patients affected with chromosome 22q11 micro-deletion often have multiple medical and surgical problems, we recommend obtaining a baseline renal ultrasound examination to identify renal anomalies before they become symptomatic.
authors.affiliation: Department of Obstetrics and Gynecology, New England Medical Center, Boston, Massachusetts, USA.
authors.forename: T L
authors.initials: TL
authors.lastname: Stewart
authors.forename: M B
authors.initials: MB
authors.lastname: Irons
authors.forename: J M
authors.initials: JM
authors.lastname: Cowan
authors.forename: D W
authors.initials: DW
authors.lastname: Bianchi
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D000013:Congenital Abnormalities / Q000145:classification; D006801:Humans; D015994:Incidence; D007668:Kidney / Q000002:abnormalities*