Urogenital Adysplasia Syndrome Health Article

Definition

Urogenital adysplasia syndrome is a rare disorder characterized by anomalies of the kidneys, urinary tract, and/or reproductive system.

Description

The development of urogenital adysplasia syndrome resulted from the combined work of multiple physicians examining several families. The first report of siblings born with both kidneys missing (bilateral renal agenesis) was made by H. Madisson in 1934. However, the term hereditary renal adysplasia was not coined until 1973 when R. M. Buchta combined the terms aplasia, the complete absence of one or both kidneys, and dysplasia, developmental anomalies of the kidneys, to form the term adysplasia to apply to familial, bilateral kidney anomalies. In 1980, R. N. Schimke and C. R. King suggested that the developmental defects in certain family's reproductive and urinary tracts (mesonephric and mullerian ducts) may have a common genetic basis and that the designation hereditary urogenital adysplasia should be used as a descriptive syndrome name.

Urogenital adysplasia syndrome is an autosomal dominant inherited condition. The symptoms of urogenital adysplasia syndrome are variable. Affected individuals within families may have features of the disease that include one or two missing kidneys (renal agenesis), one or two malformed kidneys (renal dysplasia), bladder anomalies, ureter abnormalities, hypertension, vaginal anomalies, uterine anomalies, fallopian tube anomalies, lack of a menstrual period (amenorrhea), and cysts of the seminal vesicle. Fetuses that have two missing or very abnormal kidneys are often born with a condition called Potter's sequence, or syndrome. Potter's sequence occurs when the fetal kidneys cannot produce enough amniotic fluid to surround the fetus as it develops. Features of Potter's sequence include wide-set eyes, squashed nose, small and receding chin, low-set ears, deformities of the hands and feet, and incompletely formed lungs (lung hypoplasia).

Urogenital adysplasia syndrome is also referred to as hereditary renal adysplasia (HRA), renal agenesis, and bilateral renal agenesis (BRA). The age of diagnosis for affected individuals often is determined by the symptoms they exhibit. Individuals affected by urogenital adysplasia syndrome may be diagnosed prenatally based on two (bilateral) missing kidneys, at birth based on the features of Potter's syndrome, or not until adulthood with the findings of reproductive problems or one missing kidney.