The n e w e ng l a n d j o u r na l of m e dic i n e

Images in Clinical Medicine

ChanaA. Sacks, M.D., Editor

Primary Hyperoxaluria

Dapeng Jiang, M.D., Ph.D.

Xinhua Hospital
Shanghai, China

Hongquan Geng, M.D., Ph.D.

Shanghai Jiao Tong University School of Medicine
Shanghai, China
ghongquan@hotmail.com

A
3-year-old boy presented to the pediatric urology clinic with a 6-month history of gross
hematuria and intermittent abdominal pain. Urinalysis revealed red cells, white cells, and 3+ protein. The se-
rum creatinine level was 0.9 mg per deciliter (80 mol per liter; normal range in 3-year-old Chinese children,
0.3 to 0.8 mg per deciliter [20 to 70 mol per liter]). The 24-hour urinary excretion of oxalate was elevated. A radiograph
of the abdomen showed stones in the kidneys, bladder, and left ureter. Constituent analysis of the excreted stones
indicated that the composition of the stones was more than 95% calcium oxalate monohydrate. On the basis of the
clinical data, primary hyperoxaluria type 1 was suspected. Mutational analysis of AGXT, the gene encoding alanine
glyoxylate aminotransferase, confirmed the diagnosis in this patient. Primary hyperoxaluria type 1 is a rare autosomal
recessive disorder of glyoxylate metabolism that leads to recurrent urolithiasis alone or in combination with nephro-
calcinosis. Supportive measures were initiated, including high fluid intake and oral potassium citrate and vitamin B6.
During 1 year of follow-up, the patient continued to have elevated levels of urinary oxalate and multiple kidney stones.
DOI: 10.1056/NEJMicm1609986
Copyright 2017 Massachusetts Medical Society.
n engl j med 376;15nejm.org April 13, 2017 e33
The New England Journal of Medicine
Downloaded from nejm.org on April 23, 2017. For personal use only. No other uses without permission.
Copyright 2017 Massachusetts Medical Society. All rights reserved.