Pediatric nephrology (Berlin, Germany) · 2026
Severe renovascular hypertension in an infant with a SMAD3 gene variant.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lichosik Marianna, Błażejczyk Agata, Biełanowicz Andrzej, Koziej Jan, Obrycki Łukasz, Litwin Mieczysław
Аннотация
INTRODUCTION: Renal artery stenosis is one of the severe secondary hypertension (HTN) causes in children and may lead to hypertension-mediated organ damage (HMOD), including left ventricle hypertrophy (LVH).
CASE REPORT/TREATMENT: We describe a case of a 4-year-old boy with severe renovascular HTN and LVH during infancy. Genetic testing revealed variant of unknown significance in SMAD3, a gene linked to Loeys-Dietz syndrome. The patient was treated with intensive pharmacotherapy and percutaneous intravascular intervention.
CONCLUSIONS: Early onset of HTN and HMOD should prompt consideration of genetic evaluation to aid diagnosis and management. In this case, a heterozygous SMAD3 variant coexisted with renal artery stenosis without the development of aortic aneurysms.
CASE REPORT/TREATMENT: We describe a case of a 4-year-old boy with severe renovascular HTN and LVH during infancy. Genetic testing revealed variant of unknown significance in SMAD3, a gene linked to Loeys-Dietz syndrome. The patient was treated with intensive pharmacotherapy and percutaneous intravascular intervention.
CONCLUSIONS: Early onset of HTN and HMOD should prompt consideration of genetic evaluation to aid diagnosis and management. In this case, a heterozygous SMAD3 variant coexisted with renal artery stenosis without the development of aortic aneurysms.