Gaucher disease in Iraqi children(clinical,diagnostic and therapeutic aspects)

Abstract

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.

Pitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country

“…Despite the presence of local researches that studied the clinical, laboratory and prognostic profile of GD in the Iraqi population, yet, no study has been conducted to address the challenges and opportunities to reduce the diagnostic errors in the local practice. [18][19][20][21][22][23][24] This study highlights the misdiagnosis of Gaucher disease in regard of both false positive and false negative tests' results, and how this causes harm, as the former results in over treatment, delay in the proper diagnosis and the huge impact on the financial aspect of provision of quite costly medicines. While the latter causes delay of effective therapy, increased risk of occurrence of complications and overinvestigating the patient with unnecessary tests.…”