Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings

Key Clinical MessageThis 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.

Source: Clinical Case Reports - May 2, 2024 Category: General Medicine Authors: Rahiya Rehman, Leslia Gonzalez, Kelsey Kolbe, Mohammed Khurram Faizan, William Brucker, Carolina Cerezo Tags: CASE REPORT Source Type: research