scholarly journals Cystic Fibrosis in An Infant: Presented as Pseudo Bartter Syndrome

2016 ◽  
Vol 15 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Jubaida Rumana ◽  
Arpana Lyengar ◽  
Mohammed Maruf Ul Quader ◽  
Mohammad Hanif
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Bartter Syndrome ◽  
Term Survival ◽  
Multiple Organs ◽  
Sweat Chloride ◽  
History Of ◽  
Renal Tubular

Cystic Fibrosis (CF) can involve multiple organs although the most commonly affected systems are respiratory and gastrointestinal ones. In infancy it can also present as Pseudo Bartter Syndrome which is characterized by hyponatremic, hypochloremic, hypokalamic metabolic alkalosis without renal tubular pathology. We report a 5 month old boy who had history of recurrent episodes of dehydration due to vomiting and recurrent respiratory infection. His biochemical parameters suggestive of Pseudo Bartters Syndrome. Initial sweat chloride test was normal 16 mEq/L whereas the repeated test revealed Sweat chloride concentration of 107 mEq/L. The cystic fibrosis mutation analysis revealed F508 del homozygosity for the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. Cystic fibrosis should be always considered in any infant with metabolic alkalosis and hyponatremic hypochloremic dehydration, whether or not there are association with pulmonary and /or gastrointestinal symptoms. Early diagnosis is essential in improving the prognosis and long term survival of these children.Chatt  Shi Hosp Med Coll J; Vol.15 (1); Jan 2016; Page 57-59

scholarly journals Hyponatremic dehydration and metabolic alkalosis as dominant manifestation in cystic fibrosis infants with mild phenotype - a case series

2018 ◽  
Vol 146 (9-10) ◽  
pp. 581-583 ◽  
Author(s):  
Stojka Fustik ◽  
Tatjana Jakovska ◽  
Dijana Plaseska-Karanfilska
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Case Series ◽  
Mild Phenotype ◽  
Mean Values ◽  
Sweat Chloride ◽  
Cf Transmembrane Conductance Regulator ◽  
Compound Heterozygotes

Introduction. Due to increased losses of chloride and sodium in the sweat, children with cystic fibrosis (CF) are predisposed to develop episodes of hyponatremic/hypochloremic dehydration with hypokalemia and metabolic alkalosis when they sweat excessively. Even the patients with mild phenotype may have such episodes of dehydration and salt depletion. Outline of cases. Six cases of pancreatic sufficient (PS) CF patients complicated with episodes of severe hyponatremic dehydration with metabolic alkalosis in infancy are presented. The mean age was 6.3 ? 2.16 months at admission. All the cases had no symptoms suggestive of CF before admission. The most common clinical symptoms at the time of hospitalization were vomiting, anorexia, weight loss, dehydration, irritation, or lethargy. Mean values of blood pH, serum bicarbonate, sodium, chloride, and potassium (mmol/l) were as follows: 7.59 ? 0.06, 41.73 ? 5.78, 117.52 ? 2.88, 66.0 ? 11.58 and 2.62 ? 0.37, respectively. Sweat chloride test was pathological and ranged 69?120 mmol/L. The determination of fecal elastase-1 proved that they were PS (values > 200 ?g/g stool). CF transmembrane conductance regulator gene analyses in six cases confirmed the diagnosis of CF; namely, patients were compound heterozygotes for F508del and other rare mutation or compound heterozygotes for two rare mutations. Conclusion. Distinctive about these cases is that they were PS and had very mild presentation of CF. Without these episodes of dehydration, these patients would have remained undiagnosed until later age. CF should be considered in infants and children presenting with hypoelectrolytemia and metabolic alkalosis even in the absence of respiratory or gastrointestinal symptoms.

scholarly journals Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Friederike Wilbert ◽  
Sarah C. Grünert ◽  
Andrea Heinzmann ◽  
Sebastian F. N. Bode
Keyword(s):  
Cystic Fibrosis ◽  
Systemic Disease ◽  
Gastrointestinal Symptoms ◽  
Chloride Concentration ◽  
Failure To Thrive ◽  
Sweat Test ◽  
Upper Airways ◽  
Inborn Errors ◽  
Hepatic Involvement ◽  
Number Of Patients

Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hypoglycemia can occur in a significant number of patients, although hepatomegaly is uncommon. Case presentation A 28 months old boy was presented with recurrent upper airways infections, progressive lethargy and weight loss. Clinically hepatomegaly was the main presenting feature and hypoglycemia (minimum 1.4 mmol/l) was noted as were elevated transaminases. The patient did not produce enough sweat to analyze it. Infectious causes for hepatitis were excluded and a broad metabolic work-up initiated. A therapy with starch was initiated to control hypoglycemia. In further course loose stools were reported and pancreatic elastase was found to be reduced. A further sweat test yielded pathological chloride concentration and genetic testing confirmed the diagnosis of cystic fibrosis. Conclusions Cystic fibrosis is a systemic disease and less common presentations need to be considered. Even in the age of CF-newborn screening in many countries CF needs to be ruled out in typical and atypical clinical presentations and diagnostics need to be repeated if inconclusive.

Test for the Concentration of Electrolytes in Cystic Fibrosis of the Pancreas Utilizing Pilocarpine by Iontophoresis, by Lewis E. Gibson and Robert E. Cooke,Pediatrics; 1959;24:545–549

PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_1) ◽  
pp. 230-231
Author(s):  
Victor Chernick
Keyword(s):  
Cystic Fibrosis ◽  
Filter Paper ◽  
Direct Injection ◽  
Heat Stroke ◽  
Chloride Concentration ◽  
Hot Water ◽  
Sweat Test ◽  
High Concentration ◽  
Sweat Chloride ◽  
Plastic Bag

Aim. To develop a method for stimulating sweating that is rapid, painless, and avoids the risk of heat stress. Background. Since the discovery that there is a high concentration of sodium and chloride in the sweat of patients with cystic fibrosis of the pancreas in 1953, the sweat test has been performed by placing the patient's body in a plastic bag with or without hot water bottles to stimulate sweating. This method is unsatisfactory because of complications such as hyperpyrexia and heat stroke. Direct injection of a cholinergic agent intradermally is painful and therefore not practical. Methods. A rheostat with a milliampere meter was constructed at a cost of ∼$7 that allowed the iontophoresis of pilocarpine into the skin using negative and positive (2-cm diameter) electrocardiography electrodes. The positive electrode was placed on the flexor surface of the arm over a filter paper soaked in 0.2 mL of 0.2% pilocarpine nitrate. Current (0.2 mA) was applied for 5 minutes and then sweat was collected onto a preweighed filter paper for 30 minutes. Sweat chloride was determined by a polarographic method. Sweat tests were performed on 25 patients with cystic fibrosis (CF), 17 asymptomatic relatives and 27 control patients. Patients with CF had sweat chloride concentration >80 mEq/L; relatives, 32.5 mEq/L (highest 57 mEq/L); and control subjects, 21.1 mEq/L (highest 60 mEq/L). Conclusions. The iontophoresis of pilocarpine into the skin is a rapid, painless, safe, and reliable method for stimulating sweating and facilitating the determination of sweat chloride concentration.

Negative Effects of Oral Fatty Acid Supplementation on Sweat Chloride in Cystic Fibrosis

PEDIATRICS ◽  
1979 ◽  
Vol 64 (1) ◽  
pp. 50-52
Author(s):  
John D. Lloyd-Still ◽  
Stuart H. Simon ◽  
Hans U. Wessel ◽  
Lewis E. Gibson
Keyword(s):  
Cystic Fibrosis ◽  
Fatty Acid ◽  
Sweat Rate ◽  
Chloride Concentration ◽  
Control Group ◽  
Safflower Oil ◽  
Negative Effects ◽  
Fatty Acid Supplementation ◽  
Acid Supplementation ◽  
Sweat Chloride

Essential fatty acid supplementation with oral safflower oil (1 gm/kg/day) to 11 cystic fibrosis patients (aged 6 months to 14 years) for one year produced no significant change in sweat chloride concentration (mEq/liter) or sweat rate (gm/min/m2). Addition of vitamin E (10 mg/kg/day) to the safflower oil had no effect on sweat chloride concentration or rate compared to placebo. No clinical improvement could be detected compared to a control group. These results do not support previous reports of the effects of fatty acid supplementation on sweat electrolyte concentrations in cystic fibrosis.

scholarly journals Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations

2017 ◽  
Vol 16 (1) ◽  
pp. 36-40 ◽  
Author(s):  
F. Vermeulen ◽  
C. Le Camus ◽  
J.C. Davies ◽  
D. Bilton ◽  
D. Milenković ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Concentration ◽  
Sweat Chloride

Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis

2004 ◽  
Vol 38 (3) ◽  
pp. 204-209 ◽  
Author(s):  
Pamela B. Davis ◽  
Mark D. Schluchter ◽  
Michael W. Konstan
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Chloride Concentration ◽  
Sweat Chloride

Correlation of Sweat Chloride Concentration with Genotypes in Cystic Fibrosis Patients in Saguenay Lac-Saint-Jean, Quebec, Canada

1998 ◽  
Vol 31 (1) ◽  
pp. 33-36 ◽  
Author(s):  
Marc De Braekeleer ◽  
Christian Allard ◽  
Jean-Pierre Leblanc ◽  
Gervais Aubin ◽  
Fernand Simard
Keyword(s):  
Cystic Fibrosis ◽  
Chloride Concentration ◽  
Sweat Chloride

scholarly journals Atypical presentation of cystic fibrosis: Obese adolescent with hypertension and pseudo-Bartter’s syndrome

2012 ◽  
Vol 69 (4) ◽  
pp. 367-369 ◽  
Author(s):  
Aleksandar Sovtic ◽  
Predrag Minic ◽  
Radovan Bogdanovic ◽  
Natasa Stajic ◽  
Milan Rodic ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Metabolic Alkalosis ◽  
Caloric Intake ◽  
Chloride Concentration ◽  
Plasma Renin ◽  
Holter Monitoring ◽  
Atypical Presentation ◽  
Bartter’S Syndrome ◽  
Bartter's Syndrome ◽  
Obese Adolescent

Introduction. Infants with cystic fibrosis may fail to thrive despite recommended caloric intake because of electrolyte disurbances caused by salt depletion resulting in hypochloremic metabolic alkalosis or pseudo-Bartter's syndrome. In most patients reported symptoms began in infancy, but it may be an initial presentation of disease in a previously healthy adolescent. Case report. A 15-year-old boy was admitted for evaluation of recurrent episodes of malaise associated with dehydration and acute renal insufficiency. Laboratory analysis showed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. On admission the boy was obese, with body weight of 95.5 kg (> P97), height 174 cm (> P75), and body mass index of 31.2 kg/m2 (> P95). Physical examination was inconclusive. Blood pressure holter monitoring proved significant systolic hypertension. Routine urinalysis, protein and electrolyte levels in urine were normal. Plasma renin and aldosteron were normal. Sweat chloride concentration was 63 mmol/L. Genetic testing confirmed the diagnosis of cystic fibrosis. Conclusion. To our knowledge, this is the first reported case of atypical presentation of cystic fibrosis in an adolescent presented with pseudo-Bartter's syndrome and signs of obesity and hypertension. We suggest that every patient with hypochloremic metabolic alkalosis should be evaluated for cystic fibrosis.

scholarly journals Case Report: Japanese Siblings of Cystic Fibrosis With a Novel Large Heterozygous Deletion in the CFTR Gene

2022 ◽  
Vol 9 ◽  
Author(s):  
Mayumi Kawase ◽  
Masato Ogawa ◽  
Takayuki Hoshina ◽  
Masumi Kojiro ◽  
Miyuki Nakakuki ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Direct Sequencing ◽  
Chloride Concentration ◽  
Conventional Polymerase Chain Reaction ◽  
Large Deletion ◽  
Heterozygous Deletion ◽  
Real Time Quantitative Pcr ◽  
Sweat Chloride ◽  
Exon 1 ◽  
Fecal Pancreatic Elastase

Cystic fibrosis (CF) is a rare disease in the Japanese. The most common CFTR variant in Japanese CF patients is a large heterozygous deletion that can easily avoid detection by standard gene sequencing methods. We herein report a novel large heterozygous deletion in the CFTR gene in Japanese siblings with CF. A genetic analysis was performed in two patients (9-year-old boy and 5-month-old girl) who were clinically diagnosed with CF because of the positive result for the rapid fecal pancreatic elastase antigen test and the elevation of the sweat chloride concentration. In addition to conventional polymerase chain reaction (PCR) and direct sequencing, multiplex ligation-dependent probe amplification (MLPA) was performed to check for a large deletion and duplication of the CFTR gene. Based on MLPA findings, the breakpoint of heterozygous deletion was identified by real-time quantitative PCR followed by the sequence of the amplified junction fragment. In MLPA, the numbers of the fragments corresponding to exons 1, 16, 17a, and 17b and 234 nt and 747 nt upstream from the translation initiation codon of exon 1 in the CFTR gene and exon 3 in the ASZ1 gene were reduced by almost half. The c.2908+1085_3367+260del7201 variant (exon 16-17b deletion) was identified in one allele. The other allele had a large 137,567-bp deletion from g.117,361,112 (ASZ1 3′ flanking region) to g.117,498,678 (CFTR intron 1) on chromosome 7. Since the deletion variant lacked the entire promoter region of CFTR, CFTR mRNA would not be transcribed from the allele, indicating it to be a novel pathogenic variant causing CF. As large mutations are frequently detected in Japanese CF patients, MPLA can be useful when searching for variants.

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