Nephrological problems in a child with Aicardi-Goutières syndrome

Małgorzata Piejak; Zuzanna Hus; Adam Bujanowicz; Piotr Skrzypczyk; Joanna Samotyjek; Beata Jurkiewicz; Hanna Szymanik-Grzelak; Mariusz I. Furmanek; Małgorzata Pańczyk-Tomaszewska

doi:10.5114/polp.2024.146392

eISSN: 2300-8660
ISSN: 0031-3939

Pediatria Polska - Polish Journal of Paediatrics

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4/2024
vol. 99

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abstract:

Case report

Nephrological problems in a child with Aicardi-Goutières syndrome

Małgorzata Piejak

¹

,

Zuzanna Hus

¹

,

Adam Bujanowicz

²

,

Piotr Skrzypczyk

³

,

Joanna Samotyjek

⁴

,

Beata Jurkiewicz

⁴

,

Hanna Szymanik-Grzelak

³

,

Mariusz I. Furmanek

⁵

,

Małgorzata Pańczyk-Tomaszewska

³

Student Scientific Group at the Department of Pediatrics and Nephrology, Medical University of Warsaw, Poland
Department of Pediatrics and Nephrology, Doctoral School, Medical University of Warsaw, Poland
Department of Pediatrics and Nephrology, Medical University of Warsaw, Poland
Department of Pediatric Surgery and Urology, Medical Center of Postgraduate Education, Dziekanów Leśny, Poland
Department of Pediatric Radiology, Medical University of Warsaw, Poland

Pediatr Pol 2024; 99 (4): 369-373

DOI: https://doi.org/10.5114/polp.2024.146392

Online publish date: 2024/12/30

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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.

keywords:

Nephrological problems in a child with Aicardi-Goutières syndrome

Małgorzata Piejak 1 , Zuzanna Hus 1 , Adam Bujanowicz 2 , Piotr Skrzypczyk 3 , Joanna Samotyjek 4 , Beata Jurkiewicz 4 , Hanna Szymanik-Grzelak 3 , Mariusz I. Furmanek 5 , Małgorzata Pańczyk-Tomaszewska 3

urinary tract infection, Aicardi-Goutières syndrome, congenital anomalies of kidney and urinary syndrome

Małgorzata Piejak

¹

,

Zuzanna Hus

¹

,

Adam Bujanowicz

²

,

Piotr Skrzypczyk

³

,

Joanna Samotyjek

⁴

,

Beata Jurkiewicz

⁴

,

Hanna Szymanik-Grzelak

³

,

Mariusz I. Furmanek

⁵

,

Małgorzata Pańczyk-Tomaszewska

³