LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE

Area of Science:

• Pediatric Endocrinology
• Immunology
• Genetics

Background:

• Glycogen storage disease type 1b (GSD 1b) is a multisystemic disorder with significant immune and infectious complications beyond metabolic issues.
• Granulocyte-colony stimulating factor (G-CSF) is a key therapeutic agent for managing neutropenia and inflammatory bowel disease in GSD 1b patients.

Purpose of the Study:

• To detail the demographics, genetic basis, clinical characteristics, treatment strategies, and complications in pediatric GSD 1b patients.
• To specifically highlight immune-related complications associated with GSD 1b.

Main Methods:

• A retrospective case series involving seven pediatric patients diagnosed with GSD 1b.
• Data collected from July 2000 to July 2016 at a Brazilian tertiary university hospital.
• Diagnosis confirmed through clinical, laboratory, and genetic evaluations.

Main Results:

• Patients presented with neutropenia, treated effectively with G-CSF (Filgrastim), experiencing frequent infections and hospitalizations.
• Two patients developed inflammatory bowel disease; six survived, with a mean follow-up age of 11.5 years.
• Suboptimal treatment compliance, including medication adherence, dietary management, and missed appointments, was observed.

Conclusions:

• Managing GSD 1b presents significant challenges due to its chronic, multisystemic nature, demanding dietary adherence, multiple medications, and frequent follow-ups.
• Socioeconomic factors and inconsistent medication supply within Brazil's public health system exacerbate management difficulties.
• Effective GSD 1b care requires addressing both medical complexities and systemic healthcare challenges.