End stage renal disease due to primary hyperoxaluria in a 7-month infant; a case report

Paniz Pourpashang ¹ , Arefeh Zahmatkesh ² , Fatemeh Nili ³ , Zahra Pournasiri ¹^* , Farzaneh Khosropour ⁴

¹ Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
² School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
³ Department of Pathology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
⁴ Department of Pediatric Nephrology, Shahid Beheshti University of Medical Sciences, Tehran, Iran

*Corresponding Author: Zahra Pournasiri Email: pournasiri.z@sbmu.ac.ir, , Email: pournasiri.z@gmail.com

Abstract

Primary hyperoxaluria (PH) is a rare genetic metabolic disease presented severely in infants with end-stage renal disease (ESRD). Promoting diagnosis with aggressive management is essential in these patients. Here we presented a rare case of primary hyperoxaluria type 1 (PH1) in a seven-month infant girl who underwent dialysis with prospective kidney transplantation in the future.

Keywords: Primary hyperoxaluria, Dialysis, End-stage renal disease

Implication for health policy/practice/research/medical education:

Using available methods for diagnosis and intensive management in infants with PH is essential for reducing mortality at this age.

Please cite this paper as: Pourpashang P, Zahmatkesh A, Nili F, Pournasiri Z, Khosropour F. End stage renal disease due to primary hyperoxaluria in a 7-month infant; a case report. J Nephropathol. 2023;x(x):e21475. DOI: 10.34172/jnp.2023.21475.