• Rabab Farhan Thejeal, Saja Baheer Abdul Wahhab, and Nebal Waill Saadi.
• Rabab Farhan Thejeal Assistant Professor, College of Medicine-University of Baghdad, Pediatric Department, Pediatric Gastroenterology, Children Welfare Teaching Hospital, Medical City Complex, Baghdad, Iraq.
• Pak J Med Sci. 2021 May 1; 37 (3): 782-787.

Background And ObjectivesGaucher disease (GD) is a rare hereditary disorder caused by deficiency of the lysosomal enzyme β-glucocerebrosidase. An early and definitive diagnosis minimizes the sequelae of misdiagnoses, and unnecessary and invasive diagnostic procedures.MethodsA 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.ResultsTwo 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.ConclusionEach 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).Copyright: © Pakistan Journal of Medical Sciences.

3 keywords...

hide…