Abstract: Hypophosphatasia (HPP), a rare metabolic disorder caused by mutations in the ALPL gene, leads to deficient alkaline phosphatase activity and presents unique clinical challenges for adult patients, including fractures, chronic pain, and dental issues. This disorder is often underdiagnosed due to its variable clinical presentation and overlap with other conditions, further complicating timely intervention. Early diagnosis is critical for effective management; however, current diagnostic criteria have limitations, often resulting in delays. Insights from the Global HPP Registry reveal significant disease burden and treatment gaps in treated and untreated adults. These insights underscore the importance of multidisciplinary approaches in addressing HPP-related complications, including musculoskeletal and systemic manifestations. Enzyme replacement therapy (ERT) with asfotase alfa has proven effective in reducing disease burden and improving quality of life. Recent clinical evidence suggests that ERT not only alleviates symptoms but may also prevent disease progression when initiated early. Emerging therapies and alternative regimens like teriparatide dosing adjustments are being explored for their potential benefits. In addition, advanced imaging modalities and biomarker studies are improving diagnostic accuracy and monitoring of therapeutic outcomes. This comprehensive review highlights the significant challenges and advances in diagnosing and treating HPP in adults. Ongoing research aims to enhance diagnosis and treatment through genetic testing and personalized medicine, focusing on identifying and addressing knowledge gaps to improve care for adult HPP patients. Collaborative efforts between researchers, clinicians, and patient advocacy groups are crucial for driving innovation and improving access to care. Continued research and innovation are essential, and healthcare professionals must stay informed about the latest advancements in HPP diagnosis and treatment to ensure optimal patient care. By addressing these challenges, the field can move closer to improving the lives of adults living with HPP.Abstract: Hypophosphatasia (HPP), a rare metabolic disorder caused by mutations in the ALPL gene, leads to deficient alkaline phosphatase activity and presents unique clinical challenges for adult patients, including fractures, chronic pain, and dental issues. This disorder is often underdiagnosed due to its variable clinical presentation and overlap with ot...Show More
Abstract: Background: Type 2 diabetes (T2D) is a chronic metabolic disease characterised by hyperglycaemia due to insulin resistance and impaired insulin secretion. Genetic and environmental factors can influence predisposition to this disease. Genetic predisposition plays a significant role in the risk of developing the disease, and the TCF7L2 (T-Cell Factor-Like 2) gene is one of the main genes associated with type 2 diabetes. Objective: The aim of this study was to investigate the prevalence of the rs12255372 (G/T) polymorphism in TCF7L2, a gene associated with the risk of type 2 diabete (T2D) in the Ivorian population in the north of Côte d'Ivoire. Methodology: We included a total of 75 participants, 50 with type 2 diabete and 25 healthy subjects, for various anthropometric, clinical and genetic parameters. Participants were recruited from the Korhogo Regional Hospital. After obtaining consent, a blood sample was taken from each participant for glycaemia measurement and confetti realization for molecular biology. Genomic DNA extracted from the confetti was used to perform TCF7L2 gene genotyping using allele-specific PCR. Results: Analysis of the prevalence of the T allele of the SNP rs12255372 showed a statistically significant association between type 2 diabetic patients and non-diabetics (p≤0.05). The analysis revealed a genotypic prevalence of the rs12255372 variant of the TT allele significantly more expressed in non-diabetics (52%) compared with diabetics (26%) (p=0.03, z=2.23). Conclusion: This study revealed a high prevalence of the rs12255372 genetic variant of the TCF7L2 gene in non-diabetic populations in the north of Côte d'Ivoire, suggesting a significant predisposition to types 2 diabetes and the involvement of other factors, such as environmental conditions, lifestyle habits and genetic interactions in the development of type 2 diabetes in healthy subjects carrying the TT allele of the SNP rs12255372 of the TCF7L2 gene.
Abstract: Background: Type 2 diabetes (T2D) is a chronic metabolic disease characterised by hyperglycaemia due to insulin resistance and impaired insulin secretion. Genetic and environmental factors can influence predisposition to this disease. Genetic predisposition plays a significant role in the risk of developing the disease, and the TCF7L2 (T-Cell Facto...Show More