Critical clinical indicators identified for early diagnosis of primary hyperoxaluria type 1 in kids

Key clinical features that can facilitate the earlier diagnosis and treatment of primary hyperoxaluria type 1 (PH1) in children include presentation before adolescence, nephrocalcinosis, decreased estimated glomerular filtration rate (eGFR) at diagnosis, and a higher proportion of calcium oxalate monohydrate kidney stones, according to a study.

Recognizing these distinct characteristics can lead to expedited interventions, potentially improving outcomes for individuals affected by this rare metabolic disorder.

The study included 37 patients with genetically confirmed PH1 and 147 controls matched by sex and PEDSnet institution to up to 4 control patients with kidney stones without PH of any type. Children with PH1 were diagnosed at a significantly younger age, with 75% diagnosed before the age of 8, compared to a median age of 13.5 for the control group. Patients with PH1 exhibited combinations of nephrocalcinosis on ultrasound or CT scans (43% vs 3% in the control group), lower estimated glomerular filtration rate (eGFR) at diagnosis, and displayed normal mobility.

Patients with PH1 showed a higher prevalence of calcium oxalate monohydrate kidney stones, constituting 100% of cases compared to 10% in the control group. However, no significant differences were observed in the diagnosis of failure to thrive, stone size, or echocardiography results.

Reference
Tasian GE, Dickinson K, Park G, et al. Distinguishing characteristics of pediatric patients with primary hyperoxaluria type 1 in PEDSnet. J Pediatr Urol. 2023 Oct 6:S1477-5131(23)00426-6. doi: 10.1016/j.jpurol.2023.10.001. Epub ahead of print. PMID: 37848358.