Patients of Gaucher disease(32) E
- Patient Serial No - 1
Age:
7
Sex:
female
Location:
chattogram
Mutation Type:
A 55-bp deletion in exon 9, which corresponds to a 55-bp segment absent from the pseudogene, has been identified in patients with Gaucher disease
Mutation:
A 55-bp deletion in exon 9
Clinical Features:
weakness, loss of appe-tite, gradual distention of the abdomen and weight loss
Biochemical Data:
Hemoglobin (g/dL) 7.4, Hematocrit (L/L) 0.2, RBC (x1012/L) , 2.5 Mean cell volume (fl) 69 White cell count (x109/L) 2.2.
treatement and management:
The doctor suggested that she be admitted to the children's ward for additional management. The patient and her parents underwent in-depth interviews in the pediatric department, and the youngster underwent another examination. Initial routine investigations such as complete blood count, peripheral blood film examination, malaria parasite, immunochromatographic test for malaria, random blood sugar, liver function tests, urine routine, and microscopic examination were ordered by the indoor physician. The patient was referred to a tertiary care military hospital in Dhaka for further evaluation, a proper diagnosis, and management after receiving the results of all investigations. Child specialists reviewed the patient's history, physical findings, and the results of all investigations that had been conducted so far.
Remarks:
Also most people thought that genetic studies are dead end investigations with no possible treatment. But this is not fact as the treatment is available for some genetic diseases such as Gaucher disease. Prenatal diagnosis is available and is useful when there is a known genetic risk factor.