Flores-Gonzale Alison, Herrera-Del Valle Luis Enrique, Lara-Ramírez Víctor Ramón, Marco-Valdez Ixchel, Torres-Pedroza Ariadna Judith, Briceño-Rodas Karla Jannet
Instituto Mexicano del Seguro Social, Hospital General de Zona con Medicina Familiar No. 1, Servicio Social en Medicina. Chetumal, Quintana Roo, México.
Instituto Mexicano del Seguro Social, Hospital General de Zona con Medicina Familiar No. 1, Coordinación Clínica de Educación e Investigación en Salud. Chetumal, Quintana Roo, México.
Rev Med Inst Mex Seguro Soc. 2024 Jan 8;62(1):1-5. doi: 10.5281/zenodo.10278165.
Pompe disease (PD) is a rare autosomal recessive genetic disorder (1 in 14,000) which affects the synthesis of acid alpha-glucosidase (AGA), leading to intralysosomal glycogen accumulation in muscle tissue. The clinical presentation is heterogeneous, with variable degrees of involvement and progression, classifiable based on the age of onset into infantile (classic or non-classic) and late-onset forms (juvenile or adult). The diagnostic test of choice is the enzymatic analysis of AGA, and the only pharmacological treatment is enzyme replacement therapy (ERT). This document aims to report a clinical case of late-onset PD.
14-year-old male who started at the age of 5 with postural alterations, gait changes, and decreased physical performance compared to his peers. A diagnostic evaluation was initiated in 2022 due to worsening neuromuscular symptoms, accompanied by dyspnea, tachycardia, and chest pain. A suspicion of a lysosomal storage myopathy was established, and through enzymatic determination of AGA the diagnosis of PD was confirmed. The study of the GAA gene revealed the association of 2 previously unreported genomic variants. ERT was initiated, resulting in clinical improvement.
The age of symptom onset, severity of clinical presentation, and prognosis of the disease depend on the specific mutations involved. In this case, the identified genetic alterations are associated with different phenotypes. However, based on the clinical presentation, it is categorized as juvenile PD with an indeterminate prognosis.
庞贝病（PD）是一种罕见的常染色体隐性遗传病（发病率为1/14000），会影响酸性α-葡萄糖苷酶（AGA）的合成，导致肌肉组织溶酶体内糖原蓄积。临床表现具有异质性，受累程度和进展情况各不相同，根据发病年龄可分为婴儿型（经典型或非经典型）和晚发型（青少年型或成人型）。首选的诊断检测方法是AGA的酶分析，唯一的药物治疗方法是酶替代疗法（ERT）。本文旨在报告一例晚发型PD的临床病例。
一名14岁男性，5岁时开始出现姿势改变、步态变化，与同龄人相比身体机能下降。2022年，由于神经肌肉症状恶化，伴有呼吸困难、心动过速和胸痛，开始进行诊断评估。怀疑为溶酶体贮积性肌病，通过AGA酶测定确诊为PD。对GAA基因的研究发现了2种先前未报告的基因变异的关联。开始进行ERT治疗后，临床症状有所改善。
疾病的症状发作年龄、临床表现严重程度和预后取决于所涉及的特定突变。在本病例中，所鉴定的基因改变与不同的表型相关。然而，根据临床表现，该病例被归类为青少年型PD，预后不确定。
