PDF(Pubmed)
Abstract：
This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.
摘要：
此当前病例系列增加了关节型肾功能不全胆汁淤积（ARC）相关变体的范围。在未能茁壮成长的情况下，建议提高对ARC的认识和早期基因检测，肾小管功能障碍,和病,即使胆汁淤积的程度是轻微的。及时识别和干预可以改善生活质量。
