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Background: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population., Methods: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS., Results: Totally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z-scores of weight, height, BMI, and mean FEV 1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS., Conclusion: PBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF., (© 2020 Wiley Periodicals, Inc.)

Introduction: Pseudo-Bartter syndrome (PBS) is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules. We present five patients with cystic fibrosis (CF) and PBS., Cases Outline: Four children aged between three and five-and-one-half months with previously diagnosed CF and one aged 17 months with previously undiagnosed disease, were hospitalized during the summer season, with severe dehydration, oliguria, apathy and adynamia. Additionally, one of them had an ileostomy due to meconium ileus after birth. All children were on a diet without additional salt intake. Laboratory analysis on admission showed hyponatremia (115-133 mmol/L, mean 122.4 mmol/L), high plasma renin activity (229-500 pg/ml, mean 324 pg/ml) and metabolic alkalosis (pH 7.5-7.6, mean 7.56) in all the patients, and in four of them high blood level of aldosterone (74-560 pg/ml, mean 295.9 pg/ml), hypokalemia (2.3-2.8 mmol/L, mean 2.6 mmol/L), hypochloremia (59-71 mmol/L, mean 66 mmol/L) and low urinary sodium (5-12 mmol/L, mean 9 mmol/L). After intravenous rehydration followed by additional use of sodium and chloride in mean dosis of 1.78 mmol/kg per day, all the patients made a complete recovery. With advice for additional use of salt in the mentioned amount, the patients were discharged from the hospital., Conclusion: PBS is one of CF complications, especially in infants and young children in situations accompanied by increased sweating and/or other causes of additional loss of sodium and chlorine. Sometimes, as was the case with one of our patients, PBS may be the initial presentation form of the disease.

Pseudo-Bartter syndrome (PBS) describes an uncommon but well recognised complication of cystic fibrosis leading to hypochloraemic, hypokalaemic metabolic alkalosis. Pseudo-Bartter syndrome is usually seen at initial presentation or within the first two years of life in children with cystic fibrosis. Risk factors for development of PBS include warm weather conditions, severe respiratory or pancreatic disease and gastrointestinal losses (e.g. vomiting and diarrhoea). PBS is rare in older children and adolescents although epidemics have been associated with heat wave conditions in warmer climates. In this era of climate change, it is crucial that clinicians consider Pseudo-Bartter syndrome when patients with cystic fibrosis present unwell during summer., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Unlabelled: Pseudo-Bartter's (PB) syndrome characterized by hypokalemic metabolic alkalosis and persistent failure to thrive constitutes a rare typical presentation of cystic fibrosis (CF) with prevalence of 16.8%. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa. Sweat chloride test was 102 mmol/L. DNA analysis identified 2 mutations 3849 + 1G>A (intron 19) and 4382delA (exon 24) present in heterozygous status. To the best of our knowledge, our case is the first reported case in the literature of CF manifested by PB syndrome associated with chest infection and primo-colonization with Pseudomonas aeruginosa., Conclusion: The genotype 3849 + 1G>A/4382delA found in our patient is described for the first time in the literature. It explains the lung involvement with the dehydration and electrolyte disturbances. The role of the mutation in exon 24 in cases of CF with PB syndrome remains to be determined., (© 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.)

The clinical presentations of 12 children with cystic fibrosis seen in King Khalid University Hospital are presented. Ten were of Saudi origin and the other two were African. The mean age of onset of symptoms was 2.3 months, and the mean age at diagnosis was 14.3 months (range 3-48 months). Seven children were boys and five were girls. All children presented with growth failure, recurrent chest infection and chronic diarrhoea. The parents of 83% of our cases were first-degree relatives. Pseudo-Bartter syndrome was seen in eight children. Sixty-seven per cent of our cases were colonized with Pseudomonas aeruginosa by the time of diagnosis, despite their young age (mean 7 months). Peripheral neuropathy secondary to vitamin E deficiency, meconium ileus, nasal polyps and gall-stones were present, each in one case. On follow-up, one child died and the other 11 are still alive. We concluded that cystic fibrosis is not rare in Saudi Arabia and that increased awareness of the disease is needed to avoid delay in diagnosis. Efforts should be made to prevent early colonization by Pseudomonas aeruginosa.

Seven cases of cystic fibrosis complicated by chronic salt depletion and failure to thrive were studied. After replacement of the salt deficit, the metabolic abnormalities resolved, and weight gain was rapid. This should be considered as a differential diagnosis in children who have been diagnosed as having cystic fibrosis, but who fail to thrive despite standard treatment.