Epidemiological Investigation of the mortality rate of patients with alkaptonuria during the years 2013 to 2022 in Iran

Background: Alkaptonuria is a rare disorder that leads to excessive production and accumulation of homogentisic acid in body tissues, and this increase causes tissue degeneration and organ dysfunction through a process called achromasia. Due to very few studies in the field of this disease and access to epidemiological data for the first time in Iran, the present study was conducted with the aim of epidemiological investigation of the mortality rate of patients with alkaptonuria during the years 2013 to 2022 in Iran. Methods: The design of the present study was cross-sectional (descriptive-analytical). The data related to the deceased registered according to the international coding system of diseases (ICD-10) were extracted from the system of registration and classification of the causes of death of Iran for death due to alkaptonuria disease. The variables investigated in this study included: age, gender and residence status of the deceased. Chi-square and Fisher's exact test were also used to analyze the data. Results: The specific death rate was calculated as 0.31 per one million people of the population. In this study, 90% of the deaths occurred at the age of less than five years. The age variable included two groups of less than five years and more than five years, where 90% of deaths occurred at the age of less than five years. 60% of the deceased were men and 40% were women. Regarding the residence status variable, 82% of the cases were urban and the rest were rural. Finally, there was no significant difference between the incidence of death due to alkaptonuria disease and the investigated variables, which are age (P=0.291), gender (P=0.958) and residence status (P=0.273). Conclusion: According to the findings in the present study, although no significant difference was observed between age and the number of cases of death due to alkaptonuria; But most cases of death have occurred in young age groups, which seems that more studies are needed to understand the different dimensions of this disease