Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

摘要

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association, which involves congenital anomalies affecting the vertebrae, anus, heart, trachea and esophagus, kidneys, and limbs. We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations. VACTERL association, sometimes termed VATER association depending on the criteria used for diagnosis, is estimated to occur in 0.3 to 2.1 per 10 000 live births (de Jong et al. 2008) and is a relatively poorly understood condition that includes at least several of the following defining component features: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities (Quan and Smith 1973; Czeizel and Ludányi 1985). The presence of many overlapping conditions makes accurate diagnosis challenging for both clinicians and researchers, and the exact criteria for diagnosis, in terms of the number and nature of anomalies included, are controversial (Rittler et al. 1996; Kallén et al. 2001).