Growth patterns in patients with mucopolysaccharidosis VII

Area of Science:

• Pediatric Endocrinology
• Rare Genetic Diseases
• Metabolic Disorders

Background:

• Mucopolysaccharidosis (MPS) VII is a rare lysosomal storage disorder.
• Growth abnormalities are a significant clinical manifestation in MPS disorders.
• Understanding pre-treatment growth patterns is crucial for assessing therapeutic interventions.

Purpose of the Study:

• To evaluate the growth trajectory in patients with MPS VII before initiating enzyme replacement therapy.
• To identify factors influencing growth, including age, sex, and history of non-immune hydrops fetalis (NIHF).

Main Methods:

• Retrospective analysis of growth data (height, weight, BMI Z-scores) from 20 patients with MPS VII.
• Comparison of patient data with CDC healthy population growth charts.
• Statistical analysis using linear regression and ANOVA to assess relationships with age/sex and NIHF history.

Main Results:

• Height Z-scores were near normal until age 1, then declined, particularly in males.
• Weight Z-scores showed no consistent pattern.
• BMI Z-scores were elevated in males and slightly below normal in females, with a slight age-related increase in males.
• Male patients with a history of NIHF exhibited greater declines in height and weight Z-scores compared to those without NIHF history.

Conclusions:

• Patients with MPS VII experience early declines in height Z-scores, more pronounced in males.
• Growth patterns, particularly BMI, vary by sex.
• A history of NIHF is associated with more significant height declines in male patients with MPS VII.