Nephrological problems in a child with Aicardi-Goutières syndrome
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 endoc...
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Termedia Publishing House
2024-12-01
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| author | Małgorzata Piejak Zuzanna Hus Adam Bujanowicz Piotr Skrzypczyk Joanna Samotyjek Beata Jurkiewicz Hanna Szymanik-Grzelak Mariusz I. Furmanek Małgorzata Pańczyk-Tomaszewska |
| author_facet | Małgorzata Piejak Zuzanna Hus Adam Bujanowicz Piotr Skrzypczyk Joanna Samotyjek Beata Jurkiewicz Hanna Szymanik-Grzelak Mariusz I. Furmanek Małgorzata Pańczyk-Tomaszewska |
| author_sort | Małgorzata Piejak |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c2aa0c0630f54a1a9c6db06bef98e95d |
| institution | Kabale University |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-c2aa0c0630f54a1a9c6db06bef98e95d2025-01-27T10:39:50ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-12-0199436937310.5114/polp.2024.14639255417Nephrological problems in a child with Aicardi-Goutières syndromeMałgorzata PiejakZuzanna HusAdam BujanowiczPiotr SkrzypczykJoanna SamotyjekBeata JurkiewiczHanna Szymanik-GrzelakMariusz I. FurmanekMałgorzata Pańczyk-TomaszewskaAicardi-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.https://www.termedia.pl/Nephrological-problems-in-a-child-with-Aicardi-Goutieres-syndrome,127,55417,1,1.htmlurinary tract infection aicardi-goutières syndrome congenital anomalies of kidney and urinary syndrome |
| spellingShingle | Małgorzata Piejak Zuzanna Hus Adam Bujanowicz Piotr Skrzypczyk Joanna Samotyjek Beata Jurkiewicz Hanna Szymanik-Grzelak Mariusz I. Furmanek Małgorzata Pańczyk-Tomaszewska Nephrological problems in a child with Aicardi-Goutières syndrome Pediatria Polska urinary tract infection aicardi-goutières syndrome congenital anomalies of kidney and urinary syndrome |
| title | Nephrological problems in a child with Aicardi-Goutières syndrome |
| title_full | Nephrological problems in a child with Aicardi-Goutières syndrome |
| title_fullStr | Nephrological problems in a child with Aicardi-Goutières syndrome |
| title_full_unstemmed | Nephrological problems in a child with Aicardi-Goutières syndrome |
| title_short | Nephrological problems in a child with Aicardi-Goutières syndrome |
| title_sort | nephrological problems in a child with aicardi goutieres syndrome |
| topic | urinary tract infection aicardi-goutières syndrome congenital anomalies of kidney and urinary syndrome |
| url | https://www.termedia.pl/Nephrological-problems-in-a-child-with-Aicardi-Goutieres-syndrome,127,55417,1,1.html |
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