How They Begin and How They End

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Abstract
Ureteropelvic junction (UPJ) obstruction (e.g., stenosis or atresia) is the most common cause of a palpable abdominal mass in the newborn (3). Other forms of CAKUT include multicystic dysplastic kidneys (MCDK); hypoplastic kidneys (HK); vesicoureteral reflux (VUR); nonobstructed, nonrefluxing primary megaureter (MU); and bladder outlet obstruction (e.g., posterior urethral valves) (3,4). There are a number of well-recognized but puzzling features associated with CAKUT. For example, anomalies such as UPJ stenosis/atresia and MCDK are most often unilateral or highly asymmetrical. In the newborn, many of the abnormalities, such as UPJ stenosis/atresia MCDK, prenatal hydronephrosis associated with VUR, and primary MU are overwhelmingly found in males (5,6,7,8,9,10). By contrast, in older children and adults there is a female preponderance of several of these entities (11). Some such anomalies are often concurrent (8,9,10,12). For instance, renal hypoplasia and dysplasia are often accompanied by VUR or UPJ stenosis/atresia involving the ipsilateral or contralateral kidney. The true incidence of this “dysmorphosis” is undoubtedly higher than that currently recognized since most involved kidneys are affected subclinically or escape detection by ultrasonography or other imaging modalities and do not usually receive a pathologic diagnosis (i.e., biopsy or autopsy). It is also noteworthy that these abnormalities often take a familial pattern, showing incomplete and variable genetic penetrance (13). It is therefore believed that these assorted anatomical anomalies share a common genetic cause (14,15).

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