1/8. A novel CFTR mutation found in a Chinese patient with cystic fibrosis.BACKGROUND: Cystic fibrosis (CF) is rare in Chinese. We investigated the mutations in the gene of cystic fibrosis transmembrane conductance regulator (CFTR) in a Chinese CF patient and reviewed the clinical features, gene mutations in Chinese CF cases. methods: blood samples were collected from a previously reported CF girl and her parents. The 24 coding exons of CFTR of the proband were amplified and sequenced. RESULTS: A Chinese girl of 16 years old was diagnosed as CF at the age of 14. She had recurrent productive cough with bronchiectasis in bilateral upper lobes, parasinusitis and otitis media, but without pancreatic involvement. Her sweat chloride was (108.9 /- 3.3) mmol/L. A heterozygous novel missense mutation of 699 C --> A which results in the amino acid change of N189K was identified in exon 5. In addition, a heterozygous 3821 - 3823 delT mutation in exon 19 was found in CFTR. The mutation 699C --> A was inherited from her father, and the 3821 - 3823 delT mutation was from her mother. Twenty patients with CF in Chinese reported from 1974 to 2004 were also reviewed. DelF508 mutation was not found in the nine cases whose CFTR mutations were analyzed. CONCLUSIONS: The CF proband carries two heterozygous mutations (699C --> A and 3821 - 3823 delT) in CFTR. 699C --> A mutation is a novel mutation which is not reported previously. review of reported Chinese cases suggests that the genotype of Chinese CF may be different from those of white cases. More studies are needed to understand the spectra of CFTR and clinical CF features in Chinese.- - - - - - - - - - ranking = 1keywords = sweat (Clic here for more details about this article) |
2/8. Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.We report an example of atypical CF, i.e., a family in which three siblings were affected by late-diagnosed mild CF, and showed discordant pulmonary and pancreatic phenotypes. Sibling no. 1 (male), showed a severe pulmonary involvement and pancreatic sufficiency; sibling no. 2 (female) showed a mild pulmonary disease with pancreatic sufficiency; sibling no. 3 (male) had a very mild pulmonary expression and pancreatic insufficiency. The sweat test was altered in all three siblings, and all had intestinal occlusion in young age. The whole scanning of CFTR revealed the rare F508del/D614G genotype. The discordance of clinical expression within the same family reinforces the putative role of modifier genes of CF phenotype.- - - - - - - - - - ranking = 1keywords = sweat (Clic here for more details about this article) |
3/8. Two cases of cystic fibrosis in Japanese children: studies on the essential fatty acid and prostaglandin metabolism.We describe the fatty acid (FA) and prostaglandin (PG) metabolism in two Japanese cases of cystic fibrosis (CF) with or without pancreatic insufficiency (PI). The diagnosis of CF was based on the elevated sweat chloride concentration by pilocarpine iontophoresis. A 1-month-old boy (case 1) showed poor weight gain, steatorrhea and scaly dermatitis, but no respiratory symptoms were noted. He had decreased levels of serum linoleate and arachidonate, and increased palmitoleate and oleate levels, indicating essential fatty acid (EFA) deficiency. Supplementation of fat-emulsion improved his skin lesions and the altered FA pattern within a few months, associated with the definite reduction of the urinary PG F2 alpha levels. Until two years of age, he has been free from respiratory symptoms. A 12-year-old girl (case 2) had had recurrent respiratory tract infections due to pseudomonas aeruginosa and staphylococcus aureus for several years, and her pancreatic functions were preserved. The FA patterns of her serum lipid were almost within the normal range. These results indicate that 1) the altered FA composition appeared to be a secondary consequence of PI commonly complicating CF and 2) the correction of the altered FA and PG metabolism might have a beneficial effect on the respiratory function of CF patients with EFA deficiency.- - - - - - - - - - ranking = 1keywords = sweat (Clic here for more details about this article) |
4/8. Transient neutral fat steatorrhea, elevated sweat chloride concentration, and hypoparathyroidism in a child with celiac disease.A patient with celiac disease and the unusual features of transiently elevated sweat chlorides, reversible exocrine pancreatic insufficiency, symptomatic hypocalcemia/hypomagnesemia, and transient secondary hypoparathyroidism is presented along with a brief discussion of the physiologic mechanisms thought to underlie their development.- - - - - - - - - - ranking = 5keywords = sweat (Clic here for more details about this article) |
5/8. A puzzling triad: anorexia nervosa, high sweat electrolytes and indication to partial exocrine pancreatic insufficiency.This report describes a 15-year-old girl with anorexia nervosa whose sweat electrolytes and pancreatic exocrine function were abnormal during a state of malnutrition. Both findings normalized when nutrition improved. The patient did not have any evidence of disorders known to be associated with an abnormal sweat test, including most importantly cystic fibrosis. It is postulated that the elevated sweat electrolytes and the pancreatic insufficiency developed in this patient secondary to malnutrition. The pathophysiological mechanism for both phenomena remains obscure. It is recommended that positive sweat tests in malnourished children should be repeated several times in a corrected nutritional state in order to obviate an erroneous diagnosis of cystic fibrosis.- - - - - - - - - - ranking = 8keywords = sweat (Clic here for more details about this article) |
6/8. Cystic fibrosis presenting with chronic electrolyte depletion, metabolic alkalosis and hyperaldosteronism.A five month old infant who presented with failure to thrive and was found to have severe electrolyte depletion, metabolic alkalosis and hyperaldosteronism is described. The diagnosis of cystic fibrosis was made by demonstrating abnormal sweat electrolytes and pancreatic insufficiency. It is important to exclude cystic fibrosis in any infant presenting with this biochemical abnormality.- - - - - - - - - - ranking = 1keywords = sweat (Clic here for more details about this article) |
7/8. A 69-year-old man with chronic obstructive pulmonary disease, pancreatic insufficiency and elevated sweat electrolytes.A 69-year-old man with chronic obstructive lung disease and steatorrhea presented with diffuse peribronchial thickenings in both lungs, pancreatic insufficiency and elevated sweat electrolytes. The findings are best compatible with cystic fibrosis. Cystic fibrosis should be considered in the differential diagnosis of unexplained chronic obstructive pulmonary disease even in the elderly, particularly if combined with evidence of maldigestion or recurrent pancreatitis.- - - - - - - - - - ranking = 5keywords = sweat (Clic here for more details about this article) |
8/8. Low sweat electrolytes in a patient with cystic fibrosis.A patient with the clinical syndrome of cystic fibrosis characterized by chronic pulmonary disease, infection with mucoid pseudomonas aeruginosa, sinusitis, nasal polyposis, abnormal pancreatic bicarbonate response to secretin stimulation, but normal levels of trypsin and chymotrypsin in the duodenal drainage, and a sibling with autopsy-documented cystic fibrosis, is described. sweat chloride ranged from 20 to 44 meq/liter and sweat sodium from 36 to 55 meq/liter. Immunoglobulin deficiency, alpha 1-antitrypsin deficiency, tuberculosis and abnormalities of ciliary ultrastructure were excluded. review of sweat electrolytes in 213 patients with cystic fibrosis revealed that patients with normal pancreatic enzyme release have significantly lower sweat sodium and chloride concentrations (p < 0.0005) than do patients with pancreatic insufficiency. Chronic pulmonary disease, pancreatic insufficiency and elevated levels of sweat electrolytes comprise the classic diagnostic triad for cystic fibrosis. The expression of these features may be variable, but the sweat test remains the cardinal laboratory confirmation of the diagnosis. Over 98 percent of patients with cystic fibrosis have sweat chloride values greater than 60 meq/liter, 1 to 2 percent between 50 and 60 meq/liter, and only about one in 1,000, like our patient, less than 50 meq/liter. patients with cystic fibrosis with borderline sweat chloride values frequently have chronic pulmonary disease but intact pancreatic enzyme release. In such patients, family history, ancillary clinical features and systemic exclusion of other syndromes assume special diagnostic importance.- - - - - - - - - - ranking = 11keywords = sweat (Clic here for more details about this article) |