Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation (original) (raw)
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Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2009
Delta F508 mutation is recognized as the most common genotype of cystic fibrosis (CF) however, there are small numbers of CF patients having Delta F508/F311L. In the present study, the authors report a 2-year-old Thai boy, originating from North India, presenting with recurrent episodes of febrile illness, hyponatremia, hypokalemia, and metabolic alkalosis since 4 months of age. He was transferred to our hospital for further investigation. Blood chemistry revealed the following serum electrolytes, sodium 122, potassium 3.69, chloride 79.7, and bicarbonate 33.8 mEq/L, and the following urine electrolytes, sodium < 10, potassium 45.7 and chloride < 10 mEq/L. After intravenous fluid administration, hyponatremia and metabolic alkalosis improved DNA sequencing analysis of his blood demonstrates compound mutation for Delta F508 and F311L in CFTR gene. In conclusion, the authors report a rare case of CF with Delta F508/F311L genotype presented with recurrent hyponatremia and metaboli...
1997
Cystic fibrosis (CF) is an exocrine disease affecting multiple organ systems. Patients with CF usually present with respiratory or gastrointestinal abnormalities. This study pre- sents a case of a previously healthy 17-yr-old man who was diagnosed with CF after presenting with metabolic alkalosis and hypokalemia. The defect associated with CF is in the cystic fibrosis transmembrane regulator (CFTR), which acts
Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis
Pediatrics International, 2002
Background: Infants with cystic fibrosis (CF) can develop episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis when they sweat excessively, which is not caused by sweating in normal infants. We investigated the incidence of the metabolic alkalosis with hypoelectrolytemia in CF infants, the possible risk factors for its occurrence and the importance of the manifestation in the diagnosis of CF. Methods: In order to evaluate the incidence and the risk factors for the development of this sweat-related metabolic disorder in CF, we reviewed the records of all children diagnosed as having CF before the age of 12 months in a 10-year period. Data analysis included medical history data, clinical features, biochemical parameters (blood pH, serum bicarbonate, sodium, chloride and potassium levels), sweat chloride test values, as well as genetic analysis data. Results: The prevalence of metabolic alkalosis in association with low serum electrolyte concentrations (hyponatremia, hypochloremia, and hypokalemia) in infant CF population in our region was 16.5%. We found no season predilection in its occurrence. Early infant age, breast-feeding, delayed CF diagnosis, heat exhaustion and the presence of severe CF transmembrane conductance regulator mutations are predisposed factors for the development of metabolic alkalosis with hypoelectrolytemia.
Metabolic Alkalosis and Cystic Fibrosis
CHEST Journal, 2002
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Journal of Pediatric Genetics, 2019
Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study that could rule out Bartter's diagnosis. Finally, after a complementary test that included electrolyte stools study and genetic analysis, congenital chloride diarrhea could be diagnosed.
Croatian Medical Journal
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient’s recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities.
6 CFTR dele2,3 (21 kb) mutation in cystic fibrosis patients in Latvia
Journal of Cystic Fibrosis, 2014
The main reason for development of CF for the Chuvash − the fifth in population number (1.5 mln) nationality in Russia is of the "mild" p.E92K mutation (p.Glu92Lys, c.274G>A). Objective: To identify the clinical and functional characteristics of the course of CF in the patients-carriers of p.E92K mutation. Materials and Methods: Group 1: 26 adult CF patients homozygous or heterozygous for E92K, group 2: 103 adult patients homozygous for F508del. Age, age diagnosis, BMI, level of chloride in sweat, spirometry parameters, frequency of some complications [CF related diabetes (CFRD), liver cirrhosis with portal hypertension (LCPH), distal intestinal obstruction syndrome (DIOS)/meconium ileus (MI) in past medical history, cholelithiasis, urolithiasis, pulmonary hypertension (PH), asthma] were estimated. Results are described as mean±SD/median (IQR). Results: The median age group 1 was: 26.0 (5.95) years, higher than in the group 2 − 23.6 (6.5) years (p = 0.007); age diagnosis of patients with E92K was: 13.3 (9.2), higher than among homozygous for F508del − 1.9 (4.5) years (p < 0.001). There was no significant difference in the level of chloride in sweat (101±30.5 mmol/l vs 103±32 mmol/l respectively) in the two groups. The spirometry parameters, BMI, the frequency of LCPH, DIOS/MI, cholelithiasis, urolithiasis, asthma and PH had not significant difference. CFRD had frequency in the group of the patients homozygous for F508del, and CFRD in group p.E92K was never once identified (p = 0.046). Conclusion: p.E92K mutation in patients-carriers is associated with late onset age, significant low frequency of CERD, what is likely connected with the "mildness" of this mutation.