Diagnostic delays in primary hyperoxalurias highlight urgent need for awareness

Significant diagnostic delays are often experienced by patients with primary hyperoxalurias (PH) with a discrepancy in diagnostic timelines between children and adults, according to a study.

The observational and retrospective study analyzed data from 52 patients diagnosed with PH types 1, 2, and 3. Of these patients, 34 were children and 18 were adults, with the majority diagnosed with PH1 (77%), followed by PH3 (17%) and PH2 (6%). At the time of diagnosis, 23% of patients required dialysis.

Among adult patients, renal colic was the predominant symptom at onset, affecting 79% of cases, while symptoms in children were more varied. The study found a stark difference in diagnostic delays between children and adults. The median delay for children stood at 1.2 years, compared with the 30-year delay observed in adults (P < 0.0001).

Treatment modalities varied, with RNA interference utilized in 58% of cases, while a fraction of patients underwent liver-kidney (13%) or isolated kidney (13%) transplantation. Lumasiran therapy, a targeted treatment for PH, was administered in 4 patients.

Reference
Pszczolinski R, Acquaviva C, Berrahal I, et al. Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay. Clin Kidney J. 2024;17(5):sfae099. doi: 10.1093/ckj/sfae099. PMID: 38737343; PMCID: PMC11087826.