Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.
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http://dx.doi.org/10.1136/bcr-2024-260221 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Pulmonology, Dicle University, Diyarbakır, Türkiye.
Objectives: There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of thyroid dysfunction in children and adolescents with CF and to evaluate iodine deficiency and selenium status in pwCF.
Methods: Sixty-two CF patients and 62 control subjects were evaluated.
Scand J Med Sci Sports
January 2025
Department of Surgical Sciences, Dentistry, Gynaecology and Paediatrics, University of Verona, Verona, Italy.
Previous studies in sports science suggested that regular exercise has a positive impact on human health. However, the effects of endurance sports and their underlying mechanisms are still not completely understood. One of the main debates regards the modulation of immune dynamics in high-intensity exercise.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during this transitional period is unknown. Children and adults with cystic fibrosis exhibit unbalanced fatty acid composition, most prominently a relative deficit of linoleic acid.
View Article and Find Full Text PDFMycoses
January 2025
Unité de Parasitologie-Mycologie, Département de Prévention, Diagnostic et Traitement Des Infections, CHU Henri Mondor, Assistance Publique Des Hôpitaux de Paris (APHP), Creteil, France.
Background: The airways of patients with cystic fibrosis (pwCF) harbour complex fungal and bacterial microbiota involved in pulmonary exacerbations (PEx) and requiring antimicrobial treatment. Descriptive studies analysing bacterial and fungal microbiota concomitantly are scarce, especially using both culture and high-throughput-sequencing (HTS).
Objectives: We analysed bacterial-fungal microbiota and inter-kingdom correlations in two French CF centres according to clinical parameters and antimicrobial choices.
J Cyst Fibros
January 2025
Leeds Institute of Medical Research, University of Leeds, School of Medicine, Leeds, United Kingdom; The Leeds Adult CF Unit, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom. Electronic address:
Background: Whether improvements in gastrointestinal (GI) symptoms observed with Elexacaftor/Tezacaftor/Ivacaftor (ETI) treatment are sustained in the longer-term requires exploration. This study investigated how GI-symptoms change with longer-term ETI use in pancreatic insufficient adults with cystic fibrosis (awCF).
Methods: Participants completed up to three abdominal symptom questionnaires, employing the validated CFAbd-Score.
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