Spontaneous Rupture of the Ureter in a Patient with Maturity-onset Diabetes of the Young (MODY) 5

Abstract

We herein describe a rare case of spontaneous rupture of the ureter in a 20-year-old male patient with diabetes. The patient was admitted to our university hospital due to right abdominal pain and marked hyperglycemia. A computed tomography scan showed massive leakage of urine into the right perirenal and retroperitoneal space with mild right hydronephrosis. The plasma glucose level was 1,430 mg/dl and the HbA1c level was 14.9 % (NGSP value), while antibodies to glutamic acid decarboxylase and Insulinoma-associated antigen-2 were negative. A double J ureteral stent was inserted into the right ureter. The extravasation of urine into the perirenal space disappeared immediately. Basal and bolus insulin therapy was initiated to control the hyperglycemia. A microarray analysis showed a hemizygous whole gene deletion of hepatocyte nuclear factor (HNF) -1β on chromosome 17q12, and the patient was diagnosed with MODY 5. We speculate that the occurrence of spontaneous rupture of the ureter is associated with the phenotype of MODY 5.