Abstract
We experienced a pediatric case in which left hydronephrosis and a giant ureter were found associated with macroscopic hematuria and Becker muscular dystrophy (BMD). The case was an 8 year-old boy. He visited our hospital with a first complaint of gross hematuria. Ultrasonography revealed left hydronephrosis (SFU classification Grade 2) and a giant ureter, and CT-urography revealed left renal ureteral transition stenosis. The patient was diagnosed with congenital anomalies of the kidney and urinary tract (CAKUT) without any external pressure from such as intestinal tract or tumor. Although he was naturally healthy and had no abnormal physical findings, he had a markedly high CPK level since the first visit. From the result of a genetic test (Multiplex Ligation dependent Probe Amplification: MLPA method), there were no abnormalities due to renal urinary tract injury, however, a dystrophin gene deletion was found in Exon 48, and BMD was diagnosed. To the best of our knowledge, there have been no previous reports of CAKUT associated with muscular dystrophy, and we report the relationship between the occurrence of renal ureter and skeletal muscle formation.
