سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Moazzen, Nasrin, Shahrahmani, Fatemeh, Azarfar, Anoush, Ravanshad, Yalda, Ataei Nakhaee, Alireza, Khakshour, Ali, lotfi, mojtaba, Bagheri, Sepideh. (1403). Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran. , 12(10), 19098-19101. doi: 10.22038/jpp.2024.84274.5510
Nasrin Moazzen; Fatemeh Shahrahmani; Anoush Azarfar; Yalda Ravanshad; Alireza Ataei Nakhaee; Ali Khakshour; mojtaba lotfi; Sepideh Bagheri. "Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran". , 12, 10, 1403, 19098-19101. doi: 10.22038/jpp.2024.84274.5510
Moazzen, Nasrin, Shahrahmani, Fatemeh, Azarfar, Anoush, Ravanshad, Yalda, Ataei Nakhaee, Alireza, Khakshour, Ali, lotfi, mojtaba, Bagheri, Sepideh. (1403). 'Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran', , 12(10), pp. 19098-19101. doi: 10.22038/jpp.2024.84274.5510
Moazzen, Nasrin, Shahrahmani, Fatemeh, Azarfar, Anoush, Ravanshad, Yalda, Ataei Nakhaee, Alireza, Khakshour, Ali, lotfi, mojtaba, Bagheri, Sepideh. Nephropathic Cystinosis in Children: A Ten Year Experience from a Pediatric Nephrology Center in Mashhad, North East of Iran. , 1403; 12(10): 19098-19101. 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

Journal of Pediatric Perspectives
مقاله 4، دوره 12، شماره 10، دی 2024، صفحه 19098-19101    اصل مقاله (270.97 K)
نوع مقاله: original article
شناسه دیجیتال (DOI): 10.22038/jpp.2024.84274.5510
نویسندگان
Nasrin Moazzen1؛ Fatemeh Shahrahmani2؛ Anoush Azarfar3؛ Yalda Ravanshad4؛ Alireza Ataei Nakhaee5؛ Ali Khakshour1؛ mojtaba lotfi1؛ Sepideh Bagheri* 1
1Clinical Research Development Unit of Akbar hospital, Faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2Medical Student, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
3Department of Pediatric Nephrology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
4Department of Social Medicine, Azad University of Medical Sciences, Mashhad, Iran.
5Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
چکیده
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.
کلیدواژه‌ها
Cystinosis؛ Cysteamine؛ ESRD؛ Nephropathy
مراجع
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