Imiglucerase treatment in gaucher's disease

Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several types of Gaucher's disease with varying prognosis and clinical progression of disease. We describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms of the disorder. The enzyme Imiglucerase [Cerezyme, Genzyme] has been used to treat Type 1 Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase 60 micro g/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenic volumes and blood counts. Treatment with Imiglucerase resulted in a decrease in splenic size, reduced requirements for transfusions and an improvement in cardiopulmonary symptoms

Gastrograffin use in distal intestinal obstruction syndrome of cystic fibrosis

Meconium ileus equivalent or the Distal Intestinal Obstruction Syndome [DIOS] is an entity that is frequently seen in patients with cystic fibrosis [CF]. In the gastrointestinal tract cyst fibrosis may produces symptoms of malabsorption and constipation. The latter may be associated with complications such as impaction and intestinal perforation. Meconium ileus and DIOS are an emergency and requires to be treated aggressively to ensure that consequences such as perforation do not occur. Traditional modes of management of DIOS have included the use of laxatives, Acetylcysteine and Gastrograffin enemas. We are describing the use of oral gastrograffin in our patient seen at the Aga Khan University Hospital where small bowel obstruction was refractory to treatment. Oral gastrograffin was used once diluted in 4 times the volume of water or fruit juice with half doses given on day 2 and 3. Oral gastrograffin use was followed by relief of obstruction in this patient. Gastrograffin use orally or rectally may be helpful in the treatment of refractions distal intestinal obstruction syndrome in cystic fibrosis

Screening for cystic fibrosis: the importance of using the correct tools

Cystic Fibrosis [CF] is a potentially lethal genetic disorder. The most frequent mutation worldwide in the Cystic Fibrosis Transmembrane Conductance Regulator [CFTR] gene is designated as the Delta F508 mutation. This mutation was found in only 33% of Pakistani patients studied. Since the common Pakistani mutations remain to be identified, appropriate screening tools are required to identify disease. Sweat chloride determinations remain the gold standard for diagnosing CF. This study was done to emphasize the importance of using the correct tests. The study was conducted at the Aga Khan University Hospital. The CFTR delta F508 mutation was tested on blood samples from patients suspected with CF. Sweat chloride analysis using pilocarpine iontopharesis was done with a positive value of greater than 60 meq/L. 57 pediatric samples were screened for the delta F508 mutation and were positive in only 10.6% of all patients tested. 12/57 [21%] had a preliminary sweat test. 6/12 [50%] of these patients had an abnormal sweat test and 3/6 patients with an abnormal sweat chloride [50%] had deltaF508 mutations - 2/6 [33%] were homozygotes and 1 was a compound heterozygote. Since 79% did not have a sweat test, it was difficult to assess whether this subset of patients had cystic fibrosis with a CFTR mutation other than the delta F508 tested or no CF. Sweat chloride analysis is critical to distinguish CF from other causes of severe pulmonary and pancreatic insufficiencies and to define patients requiring further analysis