Background: Deferasirox is an oral iron chelator widely used to treat iron overload in patients with transfusion-dependent β-thalassemia. This study investigated the prevalence of visual and auditory complications caused by deferasirox. Materials and Methods: This cross-sectional study included 156 patients aged less than 18 years with transfusion-dependent β-thalassemia and deferasirox iron chelator consumption admitted to the 17 Shahrivar Hospital and the Besat Clinic in Rasht, Iran. All the patients were examined for visual and auditory complications caused by deferasirox in 2019. A checklist of the patients' demographical and clinical data was recorded. Data analysis was done with SPSS and reported by descriptive statistics. Then, Fisher's exact test was performed to examine the association between visual and auditory disorders and the use of deferasirox in terms of disease-related variables including age, sex, age of onset of using chelator, drug use duration, drug dosage, and mean 6-months serum ferritin levels (P <0.05 as the significance level). Results: Of a total of 156 patients, 103 (66%) were female and 56 (35.9%) were 20-30 years of age. The prevalence of visual acuity change was 0.6%, and the prevalence of sensorineural hearing loss was 1.3%. There was only one female with the visual disorder decreasing to 9/10 and with a dose of 31-40 mg/kg/day with an average of 1000-2500 ng/ml six-month ferritin. Also, two females with hearing impairment were confirmed with a dose of ≤30 mg/kg/day, and an average of ≤1000 ng/ml six-month ferritin. The Fisher's exact test results showed no significant relationship between visual and auditory disorders with the use of deferasirox in terms of disease-related variables (p>0.05). Conclusion: The study's findings showed no significant relationship between visual and auditory disorders with deferasirox consumption. The results indicated the safety of deferasirox regarding visual and auditory side effects. More studies are required to confirm the findings.
Introduction: Trichorhinophalangeal syndrome (TRPS) is a sporadic autosomal dominant disorder with approximately 200 reported cases worldwide. We aimed to report a 15-year-old girl with TRPS type 1 (TRPS1) and the second reported case with a rare non-ossifying fibroma (NOF) in the distal part of her left femur. Case Presentation: We introduce a 15-year-old girl who presented to the outpatient rheumatology clinic at 17 Shahrivar Children's Hospital, Rasht, Iran, with the chief complaint of osteoarticular pain and bone deformities. She had sparse hair, a recession of the fronto-temporal hairline, and unusually thick eyebrows at the medial and abnormal sparseness of the lateral margins. Physical examination of the limbs revealed short fingers and toes with proximal interphalangeal (PIP) ulnar deviation of the second and third fingers in both hands. Shortness of the fourth fingers, especially in the right hand, and the swelling of the PIP joints of both hands were prominent. Genetic analysis showed deletion mutation in the TRPS1 gene in chromosome 8q24 compatible with TRPS1. Conclusions: Several symptoms and signs, including distinctive craniofacial features and ectodermal and skeletal abnormalities, are used for proper TRPS diagnosis. A correct and on-time diagnosis is essential to perform supportive care for the patient to prevent morbidities. Bone lesions, such as NOF1, can also be presented in TRPS1 patients and may be correlated with TRPS1 mutation. Further investigations are required on the association of the TRPS gene with NOF bone lesions.
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