Hematuria.

Abstract

1. Shane Roy III, MD* 1. 2. *William and Dorothy Dunavant Professor of Pediatrics; Chief, Division of Nephrology, LeBonheur Children’s Medical Center, Memphis, TN. A 9-year-old white girl was referred for evaluation of asymptomatic persistent hematuria that was noted initially at 3 years of age. Gross hematuria, with symptoms of cystitis and a negative urine culture, occurred once. Family history revealed a 41-year-old father who is deaf, has had renal failure for 9 years, has had a failed kidney transplant, and currently is on hemodialysis. He has not had a renal biopsy. A 16-year-old brother is healthy and has no abnormal renal findings. Two of the father’s brothers have hematuria and one also is hearing impaired. The patient’s blood pressure, growth, and other findings on physical examination were normal. Urinalysis revealed red blood cells (RBCs) that were too numerous to count, RBC casts, and trace proteinuria. Other laboratory findings included: blood urea nitrogen, 15 mg/dL; serum creatinine, 0.7 mg/dL; C3, 144 mg/dL; normal complete blood count; creatinine clearance, 115 mL/min per 1.73m2; and urinary protein excretion, 3.6 mg/m2 per hour. A renal biopsy was performed because no histologic data were available on any family members, and Alport syndrome (hereditary glomerulonephritis with nerve deafness) was suspected. Light microscopic examination of 38 glomeruli showed normal cellularity and no scarring. Immunofluorescence microscopy was negative. Electron microscopy showed variation in glomerular basement membrane width, thinning and splitting of the lamina densa, focal effacement of epithelial foot processes, and absence of electron-dense deposits. The pathologic findings and family history strongly favor a diagnosis of Alport syndrome. After discussion with the family, annual follow-up of the child to measure renal function, urinary protein excretion, blood pressure, and hearing acuity was recommended. Recognition, definition, differential diagnosis, and orderly evaluation of hematuria in infants and children are frequent and important issues in pediatric office practice. Hematuria is one of the most common renal abnormalities referred from pediatricians to pediatric …