Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects)
Rabab Farhan Thejeal1, Ausama Jamal Kadhum2
1Dr. RababFarhanThejeal, C.A.B.P. Assistant Professor, Department of pediatrics, Child Welfare Teaching hospital, Baghdad, Iraq.
Insights
Enzyme replacement therapy (ERT) effectively treats Gaucher disease in children, improving hematological parameters, reducing organ size, and enhancing growth. ERT is safe and reverses key complications of this rare genetic disorder.
Area of Science:
- Pediatric Hematology
- Lysosomal Storage Disorders
- Genetic Diseases
Background:
- Gaucher disease is the most common inherited lysosomal storage disorder.
- It affects multiple organs, leading to pancytopenia and hepatosplenomegaly.
- Early diagnosis and treatment are crucial for managing Gaucher disease.
Purpose of the Study:
- To detail the clinical and laboratory features of pediatric Gaucher disease.
- To raise physician awareness of Gaucher disease.
- To assess the effectiveness of enzyme replacement therapy (ERT) in children.
Main Methods:
- Retrospective review of 30 pediatric Gaucher disease patients (age 2-22 years).
- Evaluation of response to ERT included hematological parameters, organomegaly, bone disease, growth, and severity scores.
- Serial measurements were taken to assess treatment outcomes.
Main Results:
- The most common age group affected was 1-5 years (60%).
- Abdominal distension and splenomegaly were the most frequent presenting symptoms.
- ERT showed significant improvements: increased weight/height, decreased liver/spleen size, normalized hemoglobin in 67% and platelets in 53.8% of anemic patients, and reduced severity scores.
Conclusions:
- Enzyme replacement therapy (ERT) is safe and effective for pediatric Gaucher disease.
- ERT successfully reverses hematological complications and organomegaly.
- Treatment leads to improved growth and reduced disease severity.
Background And Objective:
Gaucher disease is the most common inherited lysosomal storage disorder. It is a multi organ disease affecting bone marrow, liver, spleen, lungs, and other organs contributes to pancytopenia and massive hepatosplenomegaly. This study aimed to spotlight on clinical and laboratory characteristics of children with Gaucher disease to raise awareness among physicians about the disease and to evaluate the outcome of enzyme replacement therapy (ERT).
Methods:
Clinical courses were reviewed in 30 patients with age (2-22 years) with Gaucher disease. After starting (ERT), assessment of response included serial measurements of hematological parameters, spleen and liver sizes, symptoms and signs of bone disease, growth and severity scores were also evaluated.
Results:
The most presenting age group was (1 - 5) years (60%). Abdominal distension was the most common presenting symptom, Splenomegaly presented in all of the patients. A significant response to ERT was observed, weight and height increased, both liver and spleen sizes decreased. Hemoglobin level normalizedin (67%) of the anemic patients, platelet count normalized in (53.8%)after 6 months from (ERT), the mean of severity scoring index decreased with ERT from (10.2±5.8) to (7.8±5.7) after one year of treatment.
Conclusion:
Using ERT was safe and effective in the reversal of hematological complications and organomegaly in most of the patients.
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