Document Type : original article

Authors

• nasrin moazzen ¹
• fatemeh shahrahmani ²
• anoush azarfar ¹
• yalda ravanshad ³
• alireza ataei nakhaee ¹
• ali khakshour ¹
• mojtaba lotfi ¹
• Sepideh Bagheri ⁴

¹ mashhad university of medical sciences

² akbar hospital, kaveh blvd

³ mashhad azad university of medical sciences

⁴ Mashhad University of medical sciences

Abstract

Background:

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease. It’s 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’s children 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, 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

Keywords

• cystinosis
• cysteamine
• nephropatic
• ESRD