Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion.
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.
Stewart
T L
TL
Department of Obstetrics and Gynecology, New England Medical Center, Boston, Massachusetts, USA.
Irons
M B
MB
Cowan
J M
JM
Bianchi
D W
DW
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D000013:Congenital Abnormalities / Q000145:classification; D006801:Humans; D015994:Incidence; D007668:Kidney / Q000002:abnormalities*