]> 2026-07-31T16:29:05+00:00 WBR0219 0 en Serum creatinine Alport's syndrome is a familial cause of deafness, ocular disturbances, and nephritis. Although patients usually develop end stage renal disease (ESRD), serum creatinine is often normal early in the course of the disease or among patients with mild disease. Electrocardiogram Alport's syndrome is not primarily associated with cardiac disease or changes on electrocardiogram (ECG). Urinalysis Alport's syndrome is a familial cause of deafness, ocular disturbances, and nephritis. Microscopic hematuria is the most common presenting sign of patients with Alport's syndrome. Hematuria is usually present before patients experience symptoms of renal failure (eg. hypertension) and before an elevation in serum creatinine is observed. Serum alanine aminotransferase Alport syndrome is not primarily associated with abnormal values of alanine aminotransferase (ALT) or liver abnormalities. Serum platelet count Alport's syndrome is not primarily associated with quantitative platelet disturbances. Genetics Pathophysiology A 7-year-old boy is brought to his pediatrician's office for progressive bilateral deafness. Family history is significant for a similar condition among multiple family members. Physical examination is remarkable for subcapsular posterior lens opacities, peripheral coalescing retinopathy, and high-tone sensorineural deafness. The physician suspects the patient's condition is caused by a genetic disease. Genetic testing results demonstrate a mutation in the ''COL4A5'' gene. Which test is most likely to reveal abnormal findings during further work-up of this patient? C Head and Neck Renal 2020-10-27T23:48:17Z 2459150.4918634 WBR0219