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.
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
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