Abstract:
Pompe disease is an autosomal recessive glycogen storage disorder resulting in progressive glycogen accumulation expressed in infancy with cardiomyopathy and skeletal myopathy. Without treatment by enzyme replacement therapy (ERT), life expectancy is less than 2 years. The cross-reactive immunologic material (CRIM) positive or negative status is the basis for the response to ERT. CRIM-negative patients mount an immune response to ERT, making this the most dangerous presentation. The following case study describes the 5-year course of the first successful treatment of an in utero CRIM-negative Pompe disease patient with prophylactic immune tolerance induction (ITI) and administration of ERT given within the first 2 days of life followed by ultrasound guided vascular access that facilitated by bi-weekly infusions and extensive phlebotomy.
Reference:
Ostroff M, Gupta P, Garcia D. Providing the conduit for treatment: The impact of vascular access and vein preservation in a 5-year-old child with prenatally diagnosed CRIM-negative Infantile Pompe disease. J Vasc Access. 2021 Mar 5:1129729821999486. doi: 10.1177/1129729821999486. Epub ahead of print. PMID: 33673749.