| Main clinical features
|
autonomic bladder dysfunction with impaired pupillary reflex and secondary congenital anomalies of the kidney and urinary tract,
recurrent urinary tract infections with severe hydronephrosis, vesicoureteral reflux, and chronic kidney disease
neurogenic disorder with onset in utero or early childhood
renal ultrasound demonstrated bilateral hydronephrosis, a thickened bladder wall, and a large post-void residual
also profound autonomic failure, with symptoms overlapping those found in families with truncating CHRNA3 mutations, including bladder dysfunction, impaired pupillary light reflexes, and orthostatic hypotension |