Extreme Renal Pathology in Alagille Syndrome
نویسندگان
چکیده
INTRODUCTION A lagille syndrome (ALGS) results from mutations in JAG1 and NOTCH2 in the Notch signaling pathway. These mutations clinically manifest in various ways, but ALGS is most commonly characterized by a paucity of bile ducts in the liver. ALGS often involves the kidney, which can be characterized by defects in the glomerular vasculature, podocytes, proximal tubules, and renal dysplasia. In addition, altered lipid metabolism in ALGS can cause mesangial lipidosis in the kidney. Few case reports describe the renal manifestations of ALGS. Here we report an Alagille syndrome patient with renal dysplasia, renal lipidosis, and bile cast nephropathy. This case highlights the spectrum of renal pathologic findings due to Alagille syndrome that can manifest as a result of defects in the Notch signaling pathway.
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