Comparison of classic sweat test and crystallization test in diagnosis of cystic fibrosis

Sweat chloride measurement is considered a standard diagnostic tool for cystic fibrosis [CF]. This study was performed to compare sweat chloride values obtained by quantitative pilocarpine iontophoresis [classic test] with sweat crystallization detected by direct observation of a drop of perspiration under light microscopy in patients with and without CF. The tests using both techniques were performed simultaneously in patients with and without CF. Cutoff values of >/= 60 mmol/L of chloride concentration for the classic sweat test was considered for diagnosis of CF. In crystallization method, observation of typical dendritic forms of salt crystals under light microscopy was interpreted positive. Sixty patients suspected to CF [31 males and 29 females] with age range of 9 months to 2 years underwent the sweat test using both techniques. Median sweat chloride values was 26.13+10.85 in group with negative and 72.76+12.78 mmol/L in group with positive sweat test, respectively. All the patients who had positive sweat test in classic method showed typical dendritic forms of salt crystal in sweat crystallization test, which provided the test with 100% sensitivity [95%CI: 93.1-100]. Only one of the 31 subjects with negative results for classic sweat test had positive result for crystallization sweat test, which provided the test with 96.7% specificity [95%CI: 92.9-100]. Time spent to perform the crystallization test was significantly shorter than the classic method whereas its cost was also lower than the second method. There was a good correspondence between two studied methods of sweat test. These results suggested the sweat crystallization test as an alternative test for detecting CF disease with high sensitivity and specificity

case of lipoid congenital adrenal hyperplasia presenting with cholestasis

Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. Congenital adrenal hyperplasia as one of the causes of neonatal cholestasis should be kept in mind, whenever there are also electrolytes abnormalities