{"id":2722,"date":"2026-03-16T14:55:58","date_gmt":"2026-03-16T12:55:58","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2026\/03\/16\/purvichna-hiperoksaluria-tip-1\/"},"modified":"2026-08-07T10:56:29","modified_gmt":"2026-08-07T07:56:29","slug":"purvichna-hiperoksaluria-tip-1","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2026\/03\/16\/purvichna-hiperoksaluria-tip-1\/","title":{"rendered":"Clinical case of a child with primaryhyperoxaluria type 1"},"content":{"rendered":"\n

<\/p>\n\n\n\n\n\t\t

\n\t\t\t\t\t
\n\t\t\t\t
\n\t\t\t\t\t
\n\t\t\t\t\t\t\"\"\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t\t
\n\t\t\t\t\t\t\t\t\t\n

G. Mihneva-Kirilova1, G. Zlatanova-Rashkova1, St. Yankova1, M. Gaydarova2, O. Mladenov3 <\/h3>\n

1 Department of Nephrology and Dialysis, \u201cProf. Ivan Mitev\u201d Children\u2019s Hospital,\nMedical University – Sofia\n2 Department of Pediatrics, \u201cHeart and Brain\u201d Hospital, Pleven\n3 Department of Eye Diseases, \u201cAlexandrovska\u201d University Hospital, Medical University – Sofia <\/br>\n<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t\n

<\/div>\n\n\n\n

Abstract<\/h2>\n\n\n\n

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.<\/p>\n\n\n\n

Key words:<\/strong> nephrocalcinosis, children, metabolic disorders, systemic oxalosis, end-stage renal disease<\/p>\n\n\n

<\/div>\n\n\n\t\t
\n\t\t\t\t\t
\n\t\t\t
\n\t\t\t\tTo access this content, you must purchase \u0413\u043e\u0434\u0438\u0448\u0435\u043d \u0430\u0431\u043e\u043d\u0430\u043c\u0435\u043d\u0442<\/a><\/span>.\t\t <\/div>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\n\n\n

Bibliography<\/h2>\n\n\n\n
    \n
  1. Harambat J, Fargue S, Acquaviva C, et al. Primary hyperoxaluria. Int J
    Nephrol. 2011;2011:864580.<\/li>\n<\/ol>\n\n\n\n
      \n
    1. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369(7):649-
      658.<\/li>\n\n\n\n
    2. Hoppe B. Primary hyperoxaluria: the pediatric nephrologist\u2019s point of view.
      Pediatr Nephrol. 2012;27:199-208.<\/li>\n\n\n\n
    3. Cochat P, Liutkus A, Fargue S, et al. Primary hyperoxaluria type 1: indications
      for screening and guidance for diagnosis and treatment. Nephrol Dial
      Transplant. 2012;27(5):1729-1736.<\/li>\n\n\n\n
    4. Groothoff JW, et al. Improved outcome of infantile oxalosis over time.
      Nephrol Dial Transplant. 2011;26:643-649.<\/li>\n\n\n\n
    5. Beck BB, Habbig S, Hoppe B. Genetic assessment in primary hyperoxaluria:
      why it matters. Nephrol Dial Transplant. 2013;28:2999-3007.<\/li>\n\n\n\n
    6. Cochat P, Liutkus A, Fargue S, et al. Primary hyperoxaluria type 1: still
      challenging. Pediatr Nephrol. 2006;21:1075-1081.<\/li>\n\n\n\n
    7. Bacchetta J, Cochat P. Bone involvement in systemic oxalosis. Pediatr
      Nephrol. 2015;30:1907-1915.<\/li>\n\n\n\n
    8. Jamieson NV. Combined liver-kidney transplantation in primary hyperoxaluria
      type 1. Transplantation. 2005;80:1110-1116.<\/li>\n\n\n\n
    9. Lieske JC, Milliner DS, et al. Kidney stones and nephrocalcinosis in children
      with primary hyperoxaluria. Clin J Am Soc Nephrol. 2012;7:1609-1616.<\/li>\n\n\n\n
    10. M illiner DS, Harris PC, Cogal AG. Clinical practice recommendations for
      primary hyperoxaluria. Nat Rev Nephrol. 2023;19:194-211.<\/li>\n\n\n\n
    11. M illiner DS. The primary hyperoxalurias: an algorithm for diagnosis. Am J
      Nephrol. 2005;25:154-160.<\/li>\n\n\n\n
    12. Garrelfs SF, Frishberg Y, Hulton SA, et al. Lumasiran, an RNAi therapeutic
      for primary hyperoxaluria type 1. N Engl J Med. 2021;384:1216-1226.<\/li>\n\n\n\n
    13. Belostotsky R, Frishberg Y. Novel therapeutic approaches for the primary
      hyperoxalurias. Pediatr Nephrol. 2021;36:2593-2606.<\/li>\n\n\n\n
    14. Hoppe B, Martin-Higueras C. Improving treatment options for primary
      hyperoxaluria. Drugs. 2022;82:1077-1094<\/li>\n<\/ol>\n\n\n
      <\/div>\n\n\n\n

      Address for correspondence:<\/strong><\/p>\n\n\n\n

      G. Mihneva<\/strong><\/p>\n\n\n\n

      Clinic of Pediatric Nephrology and Hemodialysis SBALDB \u201cProf. Ivan Mitev\u201d – Sofia
      <\/p>\n\n\n\n

      Blvd. \u201cAcad. Ivan Evstatiev Geshov\u201d, 11
      1606, Sofia
      tel.: 02\/815 43 25
      e-mail:       gretamihneva@gmail.com<\/a><\/p>\n\n\n\n

      \u00a0\u00a0<\/p>\n\n\n\n

      <\/p>\n\n\n\n

      <\/p>\n\n\n\n

      <\/p>\n","protected":false},"excerpt":{"rendered":"

      \u0413. \u041c\u0438\u0445\u043d\u0435\u0432\u0430-\u041a\u0438\u0440\u0438\u043b\u043e\u0432\u04301, \u0413. \u0417\u043b\u0430\u0442\u0430\u043d\u043e\u0432\u0430-\u0420\u0430\u0448\u043a\u043e\u0432\u04301, \u0421\u0442. \u042f\u043d\u043a\u043e\u0432\u04301, \u041c. \u0413\u0430\u0439\u0434\u0430\u0440\u043e\u0432\u04302, \u041e. \u041c\u043b\u0430\u0434\u0435\u043d\u043e\u04323 |
      \n1 \u041a\u043b\u0438\u043d\u0438\u043a\u0430 \u043f\u043e \u043d\u0435\u0444\u0440\u043e\u043b\u043e\u0433\u0438\u044f \u0438 \u0434\u0438\u0430\u043b\u0438\u0437\u0430, \u0421\u0411\u0410\u041b \u043f\u043e \u0434\u0435\u0442\u0441\u043a\u0438 \u0431\u043e\u043b\u0435\u0441\u0442\u0438 \u201c\u041f\u0440\u043e\u0444. \u0418\u0432\u0430\u043d \u041c\u0438\u0442\u0435\u0432\u201d,
      \n\u041c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 – \u0421\u043e\u0444\u0438\u044f
      \n2 \u041a\u043b\u0438\u043d\u0438\u043a\u0430 \u043f\u043e \u043f\u0435\u0434\u0438\u0430\u0442\u0440\u0438\u044f, \u041c\u0411\u0410\u041b \u201c\u0421\u044a\u0440\u0446\u0435 \u0438 \u043c\u043e\u0437\u044a\u043a\u201d, \u041f\u043b\u0435\u0432\u0435\u043d
      \n3 \u041a\u043b\u0438\u043d\u0438\u043a\u0430 \u043f\u043e \u043e\u0447\u043d\u0438 \u0431\u043e\u043b\u0435\u0441\u0442\u0438, \u0423\u041c\u0411\u0410\u041b \u201c\u0410\u043b\u0435\u043a\u0441\u0430\u043d\u0434\u0440\u043e\u0432\u0441\u043a\u0430\u201d, \u041c\u0435\u0434\u0438\u0446\u0438\u043d\u0441\u043a\u0438 \u0443\u043d\u0438\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 – \u0421\u043e\u0444\u0438\u044f<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"10.66223\/pediatria.2026.1.008","footnotes":""},"categories":[1301,2682,2677,2944,1],"tags":[1439,3020,3018,3017,3019,3000,3001,2955,3003,3004,3005],"class_list":["post-2722","post","type-post","status-publish","format-standard","hentry","category-articles","category-issue-1-2026","category-broj-1-2026","category-statii","tag-children-en","tag-end-stage-renal-disease","tag-metabolic-disorders","tag-nephrocalcinosis","tag-systemic-oxalosis","tag-g-zlatanova-rashkova1","tag-g-mihneva-kirilova1","tag-metabolitni-narusheniya","tag-narushena-babrechna-funkcziya","tag-o-mladenov3","tag-parvichnata-hiperoksaluriya-tip-1-ph1"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2722","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=2722"}],"version-history":[{"count":2,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2722\/revisions"}],"predecessor-version":[{"id":2731,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/2722\/revisions\/2731"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=2722"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=2722"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=2722"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}