CASE REPORT
Nephrological problems in a child with Aicardi-Goutières syndrome
1
Student Scientific Group at the Department of Pediatrics and Nephrology, Medical University of Warsaw, Poland
2
Department of Pediatrics and Nephrology, Doctoral School, Medical University of Warsaw, Poland
3
Department of Pediatrics and Nephrology, Medical University of Warsaw, Poland
4
Department of Pediatric Surgery and Urology, Medical Center of Postgraduate Education, Dziekanów Leśny, Poland
5
Department of Pediatric Radiology, Medical University of Warsaw, Poland
These authors had equal contribution to this work
Submission date: 2024-05-25
Final revision date: 2024-06-18
Acceptance date: 2024-06-23
Publication date: 2024-12-30
Corresponding author
Piotr Skrzypczyk
Department of Pediatrics and Nephrology, Medical University of Warsaw, 63a Żwirki i Wigury St., 02-091 Warsaw, Poland
Department of Pediatrics and Nephrology, Medical University of Warsaw, 63a Żwirki i Wigury St., 02-091 Warsaw, Poland
Pediatr Pol 2024;99(4):369-373
KEYWORDS
urinary tract infectionAicardi-Goutières syndromecongenital anomalies of kidney and urinary syndrome
TOPICS
ABSTRACT
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by excessive interferon-alpha production, leading to central nervous system damage, manifesting as subacute encephalopathy in infancy. Moreover, the phenotype includes frostbite-like skin lesions, hepatosplenomegaly, and endocrinopathies. Here we report a case of a patient with this syndrome and a concurrent urinary system malformation.
A 3-year-old boy with AGS was referred to the nephrology clinic due to recurrent urinary tract infections. Diagnostics including voiding cystourethrography and renal scintigraphy revealed left-sided grade III vesicoureteral reflux and minor post-inflammatory lesions. Subsequent cystometry indicated subvesical obstruction, and posterior urethral valves were incised during cystoscopy. Since the initiation of treatment with furazidine, doxazosin and oxybutynin hydrochloride, the urinary tract infection has not recurred.
Urinary system anomalies are a common issue in genetic syndromes. To date, urinary tract abnormalities have not been described as a part of the AGS phenotype.
A 3-year-old boy with AGS was referred to the nephrology clinic due to recurrent urinary tract infections. Diagnostics including voiding cystourethrography and renal scintigraphy revealed left-sided grade III vesicoureteral reflux and minor post-inflammatory lesions. Subsequent cystometry indicated subvesical obstruction, and posterior urethral valves were incised during cystoscopy. Since the initiation of treatment with furazidine, doxazosin and oxybutynin hydrochloride, the urinary tract infection has not recurred.
Urinary system anomalies are a common issue in genetic syndromes. To date, urinary tract abnormalities have not been described as a part of the AGS phenotype.
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