An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient

AB is a 31-year-old man who has had type 1 diabetes since the age of 7 years, severe visual impairment and hypoacousia. In August 1998 he was referred to a nephrologist because of progressive impairment of renal function. At his last evaluation by the diabetologist, his serum creatinine, previously 1.5–1.7 mgudl, had risen to 2.4 mgudl. During his first nephrological evaluation 5 days later, the patient reported oligoanuria beginning approximately 18 h earlier. On physical examination, the patient, who manifested a modest intellectual deficit, appeared co-operative and in good clinical condition. His blood pressure, reported as normal in the past, was 130u85 mmHg. Cardiac and pulmonary assessments were normal, and oedema was absent. A moderate bladder globus was present. The only symptoms the patient reported were occasional dysuria and urgency during the last 3 months. Glycaemic control had been good recently (in the last year glycated haemoglobin had been in the 6.5–7.8% range) and was reported as having been generally good in recent years. Insulin therapy was standard (four daily injections), and home monitoring was adequate. The patient reported no other medication except some unspecified drugs taken occasionally for a severe depressive disorder. He also reported the diagnosis of bilateral optic atrophy as the cause of his visual impairment. A contemporaneous measurement of serum creatinine, urea and electrolytes revealed creatinine at 3.8 mgudl, BUN 76 mgudl, Na 138 mEqul, and K 4.8 mEqul. An ultrasound study was immediately performed, and showed marked bilateral dilatation of the upper urinary tract and ureters, and bladder distension. A urologist was consulted and a bladder catheter, inserted without apparent obstruction, drained about 1.5 l of clear urine. Biochemical and microscopic urinalysis showed urinary density of 1005, proteinuria q, haemoglobin q, few red blood cells and 2–3 white blood cells per high-power field. The patient was hospitalized in the urology ward. Within 1 week his serum creatinine decreased to 1.5 mgudl; however, ultrasound study showed that dilatation of the urinary tract remained unchanged. Urography confirmed a marked, diffuse and bilateral dilatation of upper and lower urinary tract (Figure 1). Urethroscopy revealed no urethral valves and a normal bladder; urodynamic studies diagnosed detrusor sphincter dyssynergy. Two attempts to eliminate the use of the catheter were fruitless. The patient was discharged with instructions for intermittent self-catheterization. Urinary output was in the range of 1.5–2.5 luday. Two years after the acute event, the patient’s serum creatinine was 1.2 mgudl, his last creatinine clearance was 58 mlumin, proteinuria 0.08 gu24 h, and diuresis ranged from 2 to 3 lu24 h. The ultrasound picture was unchanged; the neurological picture had worsened progressively and the patient is currently bedridden.