Pediatrics: Timely diagnosis of primary hyperoxaluria type 1.

The article focuses on a study on the association between the early diagnosis of primary hyperoxaluria type 1 (PH1) in children and good renal outcome. PH1 is defined as an autosomal-recessive disorder that is characterized by oxaluria and leads to early nephrocalcinosis and subsequent nephrolithiasis. It stresses the need to make every effort to diagnose patients with PH1 before they become symptomatic, and to examine the siblings of affected patients. It notes that neonatal screening is the only way to guarantee the earliest diagnosis of PH1.