Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents

Aziz, Danish Abdul; Siddiqui, Fatima; Abbasi, Quratulain; Iftikhar, Haissan; Shahid, Shahira; Mir, Fatima

doi:10.1016/j.jcf.2021.09.013

Cited by 6 publications

(3 citation statements)

References 27 publications

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“…Serum hematological and biochemical evaluations were performed at the diagnosis of CF. Serum electrolyte levels were considered normal within the following ranges: 135–145 mEq/L for sodium, 3–4.5 mEq/L for potassium, and 95–110 mEq/L for chloride [ 13 ].…”

Section: Methodsmentioning

confidence: 99%

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

Meneses,

dos Santos,

Botelho

et al. 2024

BMC Pediatr

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Introduction In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil. Methods Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021. Results Fifty-eight (58) patients were included in the study, 53.5% of whom were diagnosed through clinical suspicion. The median age at diagnosis was 4.7 months (IQR: 1.5–14.8 months). Five patients had false-negative results in the newborn screening. Faltering growth was the most frequent clinical manifestation. Bronchiectasis and a history of pneumonia predominated in those older than ten, while thinness, underweight, and electrolyte imbalances were more frequent in children under two. Sequencing of the CFTR gene identified 27 genotypes, with at least one class I–III variant in all patients, and nine variants that are rare, previously undescribed, or have uncertain significance (619delA, T12991, K162Q, 3195del6, 1678del > T, 124del123bp, 3121–3113 A > T). The most frequent alleles were p.Phe508del, p.Gly542*, p.Arg334Trp, and p.Ser549Arg. Conclusions Malnutrition and electrolyte imbalances were the most frequent phenotypes for children < 2 years and were associated with genotypes including 2 class I–III variants. Rare and previously undescribed variants were identified. The p.Gly542*, p.Arg334Trp, and p.Ser549Arg alleles were among the most frequent variants in this population.

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Section: Methodsmentioning

confidence: 99%

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

Meneses,

dos Santos,

Botelho

et al. 2024

BMC Pediatr

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“…19 The SEM image shows that the PMN comprised aggregated particles with pores averaging 1.0 μm in diameter (Fig. 3 29 suggesting that the electrode can be applied to the measurement of intradermal Na + concentrations. The unique feature of the present sensor system is the simple single-needle configuration, which could allow lower invasive transdermal analysis than the conventional MN-based sensing with multiple needle electrodes.…”

Section: Figure 2amentioning

confidence: 99%

Porous Microneedle-Based Potentiometric Sensor for Intradermal Electrolyte Monitoring

et al. 2023

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A porous microneedle (PMN)-based potentiometric ion sensor for transdermal monitoring of electrolytes in the interstitial fluid was developed. The carbon coating with an ionselective membrane was formed on half of the needle tip as the working electrode, while the Ag/AgCl reference electrode was mounted on the PMN chip. This design of a single needletype configuration allows lower invasive transdermal sensing than the conventional system with multiple needle electrodes. The fabricated potentiometric sensor showed the near-Nernstian responses to Na + concentration in the excised pig skin, demonstrating the applicability for monitoring intradermal electrolytes.

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“…Work is needed to identify the most accurate in vitro and in vivo tests to predict CFTR function and clinical response to help guide individual personalized therapies. This may include a combination of organoid technology, sweat chloride concentration, nasal potential difference and intestinal current measurement [ 24 , 76 , [108] , [109] , [110] , [111] ]. It is anticipated that by investigating genetic and non-genetic modifiers, we may improve our understanding of phenotypical variation in response to CFTR therapy [ 112 , 113 ].…”

Section: Novel Therapiesmentioning

confidence: 99%

A year in review: Real world evidence, functional monitoring and emerging therapeutics in 2021

Barr

Bihouée²,

Zwitserloot

2022

Journal of Cystic Fibrosis

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Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents

Cited by 6 publications

References 27 publications

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

Porous Microneedle-Based Potentiometric Sensor for Intradermal Electrolyte Monitoring

A year in review: Real world evidence, functional monitoring and emerging therapeutics in 2021

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