Primary hyperoxaluria type 1: Clinical, genetic, and evolutionary characteristics in Tunisian children

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Published Oct 29, 2023
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Vol. 101 No. 7 (2023): Tunis med jul 2023

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Abir Boussetta
Department of Pediatric Nephrology, Charles Nicolle Hospital, University of Tunis El Manar, Faculty of Medicine of Tunis, Tunisia
https://orcid.org/0000-0002-8034-2355
Rihab Fatnassi
Department of Pediatric Nephrology, Charles Nicolle Hospital, University of Tunis El Manar, Faculty of Medicine of Tunis, Tunisia
Manel Jellouli
Department of Pediatric Nephrology, Charles Nicolle Hospital, University of Tunis El Manar, Faculty of Medicine of Tunis, Tunisia
Rym Maamouri
Department of Ophthalmology , Habib Thameur Hospital, University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia
Ridha Mrad
Department of Hereditary and Congenital Diseases, Charles Nicolle Hospital, University of Tunis El Manar, Faculty of Medicine, Tunis, Tunisia
Tahar Gargah
Department of Pediatric Nephrology, Charles Nicolle Hospital, University of Tunis El Manar, Faculty of Medicine of Tunis, Tunisia
Asma Omezzine
Department of Biochemistry , Sahloul Hospital, Tunisia

Abstract

Introduction: There are three types of primary hyperoxaluria, with type 1 considered the most severe.


Aim: To analyze the clinical, genetic, and evolutionary characteristics of type 1 primary hyperoxaluria with pediatric onset.


Methods: This was a retrospective, descriptive study that included Tunisian children under the age of 18 at the time of diagnosis over a period of 25 years (January 1, 1996, to December 31, 2022).


Results: Thirty-five patients were included, with a mean age of 4.1 years. The most common presenting circumstances of the disease were nephrolithiasis and end-stage renal failure. The average serum creatinine level was 225.42 µmol/l. Five mutations were identified, with the p.Ile244Thr mutation being the most prevalent. Nephrocalcinosis, surgical intervention, and a creatinine level ≥57 µmol/l were predictive of progression to end-stage renal failure. The infantile form was predictive of mortality.


Conclusions: Screening for the disease would improve the prognosis of this condition.

Keywords:

Children, Primary hyperoxaluria, AGXT gene, Chronic kidney failure, Mortality

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