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Pediatric Gaucher experience in South Marmara region of Turkey

Gülin Erdemır1, Tanju Özkan, Taner Özgür

  • 1Uludağ University, School of Medicine, Department of Pediatric Gastroenterology, Bursa, Turkey. gulinerdemir@yahoo.com

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|January 12, 2012
PubMed

Insights

Enzyme replacement therapy improved Gaucher disease symptoms in children, normalizing blood counts and organ sizes. However, some patients experienced neurological issues or bone lesion progression, highlighting the need for ongoing monitoring.

Area of Science:

  • Pediatric Endocrinology
  • Lysosomal Storage Diseases
  • Gaucher Disease Management

Background:

  • Gaucher disease is a rare genetic disorder affecting multiple organs.
  • Clinical manifestations vary, impacting bone, liver, spleen, and blood.
  • Enzyme replacement therapy (ERT) is a standard treatment.

Purpose of the Study:

  • To detail the clinical profiles of six pediatric Gaucher disease patients.
  • To evaluate the efficacy and outcomes of ERT over three years.

Main Methods:

  • Retrospective analysis of six pediatric patients with Gaucher disease treated with imiglucerase for over three years.
  • Comprehensive data collection including clinical, anthropometric, hematological, biochemical, and radiological parameters.
  • Assessment of clinical presentation, disease progression, and therapeutic response.

Main Results:

  • All patients presented with Type 1 Gaucher disease, characterized by bone lesions, thrombocytopenia, and hepatosplenomegaly.
  • Three years of ERT led to normalization of blood counts, organomegaly, bone mineral density, and growth in all patients.
  • Two patients developed neurological symptoms, leading to a revised diagnosis of Gaucher type 3; vertebral bone lesions progressed in three patients despite treatment.

Conclusions:

  • ERT demonstrates satisfactory clinical improvements in pediatric Gaucher disease.
  • Close monitoring is essential due to the potential for disease progression and neurological complications even with ERT.
Abstract

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