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Conference Roundup
Primary Hyperoxaluria

Anxiety over recurrent stone events, kidney failure high in patients with primary hyperoxaluria

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Primary hyperoxaluria (PH), a rare monogenic disorder associated with frequent kidney stone events and an increased risk of chronic kidney disease, significantly impacts the quality of life (QoL) of affected individuals, according to a study that highlights the importance of addressing depression, anxiety, bodily pain, kidney stones, and chronic kidney disease in patients with PH, regardless of the specific underlying cause.

The study involved 25 patients with PH and 21 caregivers, providing valuable insights into the challenges faced by those affected by this condition. Most PH cases were diagnosed during childhood, encompassing all 3 known forms of the disorder, including 20 cases of PH1, 15 cases of PH2, and 12 cases of PH3.

Genetic testing emerged as the primary diagnostic method, accounting for 78% of cases. Additionally, 9% of patients were diagnosed through liver biopsy, while 13% were uncertain about the diagnostic process.

The study found that nearly half of the patients experienced their first kidney stone event during infancy or toddlerhood, with 23% affected during preschool or school-age years. Only 4% experienced their first stone as adults, and 13% never experienced a kidney stone event.

Chronic kidney disease and fatigue were identified as significant additional health burdens. Interestingly, adult patients expressed greater concern over kidney stones compared to parents and caregivers. The study also highlighted the impact on daily activities, with socializing, traveling, attending school or work, and participating in sports being the most affected areas.

Anxiety regarding recurrent stone events and the possibility of future kidney failure was a common concern across all 3 types of PH. Patients with PH3 reported the highest QoL scores, indicating the least overall impact on their daily lives, followed by PH2, while patients with PH1 reported the lowest scores.

Reference
Modersitzki F, et al. Assessment of Health-Related Quality of Life in Primary Hyperoxaluria. Presented at: Kidney Week 2023.

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