Understanding and managing patients with adult rare diseases

• 영문명: Understanding and managing patients with adult rare diseases
• 발행기관: 대한의학유전학회
• 저자명: Jangsup Moon
• 간행물 정보: 『대한의학유전학회지』제21권 제1호, 1~5쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2024.06.30

국문 초록

Despite advances in the diagnosis and management of rare diseases (RDs), there remains a tendency to overlook adult RD patients. In addition to the considerable number of adult-onset RDs, advances in the diagnosis and management of pediatric RDs have led to an increase in the survival of these patients into adulthood. Adult RDs exhibit distinct features from pediatric counterparts, necessitating careful consideration during medical assessments. Given the extended life expectancy of adult RD patients, precise diagnosis and management strategies can significantly enhance patient outcomes. This review aims to provide an in-depth exploration of the characteristics unique to adult RDs. Special emphasis will be placed on the importance of cascade screening and prenatal genetic testing in the context of adult RDs, highlighting the need for a comprehensive understanding of these aspects in clinical practice.

목차

Introduction

General Characteristics of Adult Rare Disease Patients

Drug Repurposing and Dietary Modification

Cascade Screening

Prenatal Testing and Preimplantation Genetic Testing

Conclusion

Acknowledgements

Funding

References

키워드

Rare diseases Late onset disorders Genetic diseases inborn Genetic carrier screening Genetic counseling