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Colegio de Medicina Interna de México.

2023, Number 1

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Med Int Mex 2023; 39 (1)

Follow up of three patients with late onset Pompe disease treated with alglucosidase alfa

Sánchez-Sánchez LM, Sepúlveda-Cantú H, Sifuentes-Mendoza R, Martínez-Segovia RI

Language: Spanish
References: 23
Page: 170-177
PDF size: 225.41 Kb.


ABSTRACT

Background: Pompe disease is a genetic disorder of glycogen metabolism due to the deficiency of the enzyme acid alpha-glucosidase, causing progressive muscle weakness, respiratory distress and life-threatening heart condition. Patients treated with enzyme replacement therapy (ERT) with alglucosidase alfa need to have follow up and assess the response to treatment.
Clinical case: This paper reports the case of three women with Pompe disease, 32, 41 and 31 years old, who started with symptoms between 12-16 years old, but were diagnosed at the age of 30, 39, and 29 years, respectively. They were homozygous c.1082c› T, two sisters and a cousin. All three received enzyme replacement therapy 6-20 months earlier. Functionality improved after the start of enzyme replacement therapy; two of the patients were unable to walk and needed oxygen, and now they can walk and climb stairs, although only one successfully completed the 6-min-walk and 3-min-stairs tests. Two patients were dependent on oxygen before the enzyme replacement therapy and subsequently maintained saturations above 90% without oxygen.
Conclusions: Enzyme replacement therapy improved movement and functionality, as well as oxygen saturation in 3 patients with Pompe disease in a hospital in the northeast of Mexico.


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