Early Intervention for Renal Dysfunction due to Terminal Deletion of Chromosome 10q by Monitoring Cystatin-C

抄録

Terminal deletion of the long arm of chromosome 10 is frequently associated with urogenital anomalies. Renal dysfunction sometimes progresses despite aggressive treatment, and timely interventions are indispensable. Serum creatinine (Cr) overestimates renal function in children with low muscle mass. Meanwhile, serum cystatin-C (cysC) is unaffected by muscle mass. We report the case of a patient with terminal deletion of chromosome 10q associated with low muscle mass and renal dysfunction due to urinary anomalies. Treatment for renal dysfunction was performed by monitoring cysC. At 2 years of age, as cysC increased, although Cr was normal, prostatic diverticulectomy and vesicostomy were performed. At 3 years of age, as cysC was high, although Cr normalized, residual prostatic diverticulectomy was performed. At 5 years of age, cysC normalized later than Cr. CysC enabled accurate evaluation and early intervention of renal dysfunction compared to Cr in a patient with chromosomal abnormalities with low muscle mass.