Articles, Issue 1/2026, Брой 1/2026, Брой 1/2026, Articles

Clinical case of a child with primaryhyperoxaluria type 1

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G. Mihneva-Kirilova1, G. Zlatanova-Rashkova1, St. Yankova1, M. Gaydarova2, O. Mladenov3

1 Department of Nephrology and Dialysis, “Prof. Ivan Mitev” Children’s Hospital, Medical University – Sofia 2 Department of Pediatrics, “Heart and Brain” Hospital, Pleven 3 Department of Eye Diseases, “Alexandrovska” University Hospital, Medical University – Sofia

Abstract

Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disorder characterised by increased endogenous production of oxalates. This leads to nephrocalcinosis, progressive renal impairment, and the development of systemic oxalosis. We present a clinical case of a child with infantile onset PH1, rapid progression to end-stage kidney disease with skeletal and ocular involvement. Despite conservative treatment, subsequent targeted therapy with lumasiran, and combined liver and kidney transplantation,
persistent post-transplant complications were observed, associated with the prolonged release of oxalates from tissues.
This case highlights the importance of early genetic diagnosis, an individualised therapeutic approach, and the need for long-term multidisciplinary follow-up in patients with PH1.

Key words: nephrocalcinosis, children, metabolic disorders, systemic oxalosis, end-stage renal disease

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Address for correspondence:

G. Mihneva

Clinic of Pediatric Nephrology and Hemodialysis SBALDB “Prof. Ivan Mitev” – Sofia

Blvd. “Acad. Ivan Evstatiev Geshov”, 11
1606, Sofia
tel.: 02/815 43 25
e-mail: gretamihneva@gmail.com