Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran

Moazzen, Nasrin; Shahrahmani, Fatemeh; Azarfar, Anoush; Ravanshad, Yalda; Ataei Nakhaee, Alireza; Khakshour, Ali; Lotfi, Mojtaba; Bagheri, Sepideh

doi:10.22038/jpp.2024.84274.5510

Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran

Document Type : original article

Authors

Nasrin Moazzen ¹

Fatemeh Shahrahmani ²

Anoush Azarfar ³

Yalda Ravanshad ⁴

Alireza Ataei Nakhaee ⁵

Ali Khakshour ¹

mojtaba lotfi ¹

Sepideh Bagheri ¹

¹ Clinical Research Development Unit of Akbar hospital, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

² Medical Student, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

³ Department of Pediatric Nephrology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

⁴ Department of Social Medicine, Azad University of Medical Sciences, Mashhad, Iran.

⁵ Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

10.22038/jpp.2024.84274.5510

Abstract

Background: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease. Its clinical manifestations include: failure to thrive, fanconi syndrome, ocular findings, growth retardation and end stage renal disease.
Methods: This was a retrospective chart review of patients with a diagnosis of nephropathic cystinosis over a ten year period in Dr. Sheikh Children’s Hospital in Mashhad, North East of Iran.
Results: 20 patients were included in the study. The most common symptoms leading to the diagnosis were failure to thrive, polyuria, and polydipsia. Kidney involvement was reported in 77% of patients. End stage renal disease was reported in 10% and 2 patients had died because of that. Extrarenal manifestations included: hypothyroidism (25%), anemia (55.5%) and hypophosphatemic rickets (80%).
Conclusion: The most important complication of nephropathic cystinosis is end stage kidney disease. Early diagnosis and timely treatment with cysteamin can prevent or delay the complications.

Keywords

Cystinosis

Cysteamine

ESRD

Nephropathy

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