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

BACKGROUND AND OBJECTIVES: Gaucher disease (GD) is a rare hereditary disorder caused by deficiency of the lysosomal enzyme ß-glucocerebrosidase. An early and definitive diagnosis minimizes the sequelae of misdiagnoses, and unnecessary and invasive diagnostic procedures. METHODS: A cross-sectional descriptive study was conducted in the period from June to August, 2018, to analysing data of thirteen patients, retrospectively. They presented to the gastrointestinal and metabolic clinics in Children Welfare Teaching Hospital in Iraq, and had wrong and delayed diagnosis of GD. RESULTS: Two groups of patients were identified, based on diagnosis by enzymatic assay (considering the test positive when the enzyme level is below the normal value); those who had false positive (low level of the enzyme) result and received enzyme replacement therapy for long time, and those who had false negative (normal level of the enzyme) results which caused delay in their diagnosis and treatment. Two main factors that misled the diagnosis were identified. CONCLUSION: Each patient with Gaucher disease need to be approached by taking a thorough history, a proper clinical examination, and then by being investigated, accordingly. Biomarkers and molecular genetic studies are more accurate and solid additional tools, to the enzymatic assays on dried blood sample (DBS).

Gaucher disease in Iraqi children (Clinical, diagnostic & therapeutic aspects).

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.

Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients.

Background: Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria. Results: The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries. Conclusion: Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.