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제목 When Do We Do Gene Tests in Children with Hematuria?
저자 Jun Oh
출판정보 2024; 2024(1):
키워드
초록 Microscopic hematuria is a frequent occurrence encountered in pediatrics, affecting approximately 0.25% of pediatric patients. This condition can origin from multiple etiologies, ranging from benign to potentially serious, including urological causes, nephrolithiasis, any glomerular diseases. In children and young adults, isolated microscopic hematuria frequently points towards an underlying monogenic disorder, such as Alport syndrome or thin basement membrane nephropathy. Hematuria often serves as an initial indication of glomerular disease and may sometimes foreshadow renal failure in later stages of life. The primary challenge for pediatric nephrologists lies in distinguishing children with potentially progressive kidney diseases from other causes. Incorporating genetic testing for these conditions into clinical practice can furnish crucial diagnostic and prognostic insights that hold significance for patients and their families, particularly in scenarios where kidney transplantation is under consideration.
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