Alport Syndrome

Abstract

A.K. was a 5-year-old boy who presented to the ­pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem-7) were both normal. Renal ultrasound was performed which was also normal and without hydronephrosis. A.K. had one younger brother who was two years old with no health problems. A.K.’s father was 38 years old and had no health concerns. A.K.’s father’s brother, sister, and parents were all healthy, with no renal concerns. A.K.’s father’s brother had one son who was healthy at seven years. A.K.’s mother was healthy at 37 years. She had one brother and two sisters, none of whom had any renal concerns. One of her sisters had a son and a daughter; the son, who was six years old, had proteinuria found on dipstick about a year ago, but he has not been referred to a nephrologist. A.K.’s maternal grandfather was healthy and his grandmother died of myocardial infarction at the age of 60.