Episodic Hematuria in a Young Boy - Do Not Miss Familial Idiopathic Hypercalciuria

Familial hypercalcemia is an important cause of episodic hematuria in children and can lead to nephrolithiasis if untreated. Elucidation of proper family history and screening of family members can help in clinching the diagnosis. An 8-year-old boy presented with episodic painless hematuria for 3 years, with a history of small renal stones in parents, which was managed conservatively. Ultrasound showed concretions in the renal pelvis, and urinalysis revealed hypercalciuria in the absence of renal tubular acidosis in index case as well as parents. He was started on thiazides, oral citrate supplementation, and adequate hydration, following which he became asymptomatic.