Editing Pediatrics: Anomalies of the Kidneys (section)

=== Bilateral Renal Agenesis (BRA) ===
* '''Much more common among males; 75% of patients with bilateral renal agenesis are male'''
* '''Gross pathology'''
** '''Ureters are almost always absent'''
** '''Bladder is either absent or hypoplastic'''
** '''Adrenal glands are usually positioned normally'''
* '''Phenotypic Features'''
** '''Infants look prematurely senile''' and have “a prominent fold of skin that begins over each eye, swings down in a semicircle over the inner canthus and extends onto the cheek”. This facial feature is a sine qua non of nonfunctioning renal parenchyma and suggests that its absence confirms the presence of at least one kidney
** '''Anomalies of the external genitalia''' '''include absence of the scrotum and clitoral hypertrophy;''' '''testes are undescended''' in 43% of cases, '''penile development is usually normal'''
** '''High incidence of anomalies of the Mullerian duct''' '''structures and ovaries'''
** Uropathy-associated pulmonary hypoplasia appears to be a result of oligohydramnios rather than renal dysfunction
* '''Prenatal diagnosis'''
** '''Diagnosed by prenatal ultrasonography in the second and third trimesters, when severe oligohydramnios is noted and no renal parenchyma can be identified'''. Additional diagnostic findings include small lung volumes and chest diameter and abnormal adrenal gland appearance.
** '''The characteristic Potter facies and the presence of oligohydramnios are pathognomonic.'''
* '''Postnatal diagnosis'''
** '''Regardless of the gestational age, infants void within the first 24 hours of life; after the first 24 hours, anuria without distention of the bladder suggests BRA'''
** Post natal renal US is the most efficient way to identify the kidneys and bladder and to confirm the presence or absence of urine production.
* '''Prognosis'''
** '''About 40% of the affected neonates are stillborn'''
** '''Of those neonates born alive, most do not survive beyond the first 24-48 hours because of respiratory distress'''