End-stage renal disease in a Down syndrome patient caused by delayed diagnosis of nonneurogenic bladder: A case report

RATIONALE: Patients with Down syndrome (DS) have a higher incidence of nonneurogenic neurogenic bladder (NNB) than do normal subjects. Renal failure may occur frequently in NNB patients. Although most of the cases of NNB patients with DS reported to date have been acute renal injuries, we report a patient with DS who was diagnosed late with urinary tract obstruction due to NNB that finally proceeded to end-stage renal disease (ESRD). This case of terminal renal failure is the first such reported case in the world. PATIENT CONCERNS: A 35-year-old female patient had visited another hospital for 1 month for abdominal discomfort, nausea, constipation, and palpable mass. Cystic mass in the pelvic cavity, increased BUN, and Cr findings were observed. Residual urine was 1.8 L. She had a history of DS. DIAGNOSES: Based on computed tomography and urodynamic study, ESRD due to NNB was diagnosed. INTERVENTIONS: An emergency hemodialysis was performed and a catheter was inserted into the bladder. Transfusion and amlodipine were administered according to the patient's condition. There was no improvement in renal function seen, and so arteriovenous fistula surgery and regular hemodialysis were performed. OUTCOMES: The patient was discharged from the hospital with a bladder catheter. She was visited on a regular basis for catheter replacement and hemodialysis. LESSONS: Patients with DS have lower intelligence than normal people and often do not recognize or complain about inconveniences, even in the presence of urinary symptom. NNB has good prognosis when treated early, but there is a risk of ESRD if the diagnosis and treatment are delayed, as was the case here. Considering that the prevalence of NNB and other urinary tract diseases is high in patients with DS, clinicians need to take careful histories and observe deeply, even if the patient does not mention certain issues.