Departamento de Pediatría, Facultad de Medicina, Unidad de Genética Clínica, Servicio de Pediatría, CIBERER-GCV02 and Grupo DGA B20, Hospital Clínico Universitario 'Lozano Blesa', Universidad de Zaragoza, Zaragoza, Spain.
Unidad de Dismorfología, Unidad de Gestión Clínica de Pediatría, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Adv Ther. 2020 May;37(Suppl 2):29-37. doi: 10.1007/s12325-019-01176-1. Epub 2020 Mar 31.
Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritance pattern), laboratory tests and image studies, but diagnosis can be delayed several years after the initiation of symptoms. The advances in molecular genetics that have taken place in recent years have led to an important shift in medical practice and in its approach to the diagnosis and treatment of many rare diseases. The objective of this review is to promote a better understanding of the mechanisms underlying genetic diseases in humans and the tools available for their diagnosis. A practical example of X-linked hypophosphataemic rickets is described.
罕见病是危及生命或严重致残的异质性疾病，影响每 2000 人中不到 1 人，且大多数具有遗传成分。诊断过程通常基于经典的临床实践，如体格检查、个人和家族史（遗传模式）、实验室检查和影像学研究，但在症状出现后，诊断可能会延迟数年。近年来分子遗传学的进步导致了医学实践的重要转变，以及对许多罕见病的诊断和治疗方法的改变。本综述的目的是促进更好地理解人类遗传疾病的机制以及可用于诊断这些疾病的工具。本文还描述了一个 X 连锁低磷血症性佝偻病的实际案例。
