Table 4.

Urofacial Syndrome: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Urinary tract dysfunction
  • Urinalysis & urine culture for those w/manifestations of occult or chronic urinary tract infection
  • Urinary tract ultrasound
  • Micturating cystourethrogram
  • Uroflowmetry or urodynamic testing
Kidney disease
  • Serum creatinine concentration &/or estimated glomerular filtration rate
  • Blood pressure measurement
Assessment of kidney parenchymal damage: as indicated by the affected person's presentation, DMSA isotope scan to visualize non-functional kidney parenchyma (i.e., scars) combined w/ultrasonography to detect thinned kidney cortex 1
Nocturnal lagophthalmos Ophthalmologic exam for evidence of nocturnal lagophthalmos
Constipation Assessment of bowel emptying
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of UFS to facilitate medical & personal decision making

DMSA = dimercaptosuccinic acid; MOI = mode of inheritance; UFS = urofacial syndrome

1.
2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Urofacial Syndrome

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