Related Experiment Videos
Wilson disease in southern Iran
Ali Akbar Asadi Pooya1, Nasir Saeedi Eslami, Mahmud Haghighat
1Department of Pediatrics, Nemazee Hospital Medical School, Shiraz, Iran. asadipoa@sums.ac.ir
Summary
This study identified demographic, clinical, and biochemical features of Wilson disease in 111 Iranian patients. Hepatic and neurological symptoms were most common, with biochemical abnormalities often indicating delayed diagnosis.
Area of Science:
- Medical Genetics
- Hepatology
- Neurology
Background:
- Wilson disease is a fatal autosomal recessive disorder affecting the brain, liver, and cornea.
- Early diagnosis and treatment are crucial for managing Wilson disease.
Purpose of the Study:
- To describe the demographic, clinical, and biochemical characteristics of Wilson disease patients in Fars Province, Southern Iran.
- To provide insights into the disease's presentation in a specific geographic region.
Main Methods:
- A cross-sectional descriptive study of 111 Wilson disease patients admitted to Nemazee Hospital, Shiraz, Iran (1990-2004).
- Data collection included demographic, clinical, and biochemical parameters.
- Statistical analysis was performed using the t-test.
Main Results:
- The study included 111 patients (65 males, 46 females) with a mean age of 11±7 years.
- The most frequent manifestations were hepatic (83.8%), neurological (24.3%), and psychological (23.4%).
- Common biochemical findings included elevated urinary copper (91.4%), prolonged prothrombin time (84.5%), and increased liver enzymes (77-89%).
Conclusions:
- The demographic and clinical features of Wilson disease in this Iranian cohort were comparable to other Asian studies.
- Biochemical abnormalities suggested potential delays in diagnosis compared to international studies.
- The findings highlight the importance of recognizing Wilson disease manifestations in Southern Iran.