경한 임상양상을 보인 판코니-비켈 증후군 1예
A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs
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초록
본 증례는 판코니-비켈 증후군으로 유전자 검사를 통해 진단되었으나 전형적인 임상양상과는 다른 경한 경과를 보여 유전자 돌연변이를 포함하여 문헌고찰과 함께 보고하는 바이다.
Abstract
Fanconi-Bickel syndrome is a rare autosomal recessive disorder caused by a mutation in the facilitative glucose transporter 2 gene (GLUT2 or SLC2A2 gene) that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Mutation of this gene leads to defective carbohydrate metabolism, hepatomegaly, glucose intolerance, proximal renal tubular dysfunction, and hypophosphatemic rickets. We report a case of Fanconi-Bickel syndrome in an 18-year-old man who presented due to renal glycosuria; a mutation was identified in the GLUT2 gene (c.482C > A + c.1556G > A). To the best of our knowledge, unlike previous reports of Fanconi-Bickel syndrome, this case was relatively unusual in that it caused only mild clinical signs.
참고문헌 (10)
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