Unlabelled: In the pediatric emergency department, dehydrated children are one of the most frequent causes for consultation, however, the coexistence of hyponatremia with hypochloremia and metabolic alkalosis is rare. The presence of metabolic alkalosis due to chloride depletion has been reported as a form of presentation of Cystic Fibrosis (CF).
Objective: to describe a case of cystic fibrosis of unusual presen tation in a pediatric patient.
Clinical Case: we report a 3-month-old previously healthy male infant who presented with internal environment abnormalities consisting of metabolic alkalosis, hypona tremia, hypokalemia, and extreme hypochloremia associated with septic shock due to mixed viral- bacterial pneumonia (Rhino/enterovirus, Streptococcus pneumoniae, and Staphylococcus aureus). Cys tic fibrosis (CF) was suspected, thus the diagnosis was corroborated by sweat test and genetic study which showed the pathogenic variants c.2834C>T (p.Ser945Leu) and c.3484C>T (p.Arg1162X), both heterozygous.
Conclusion: special attention should be paid to the existence of hypochloremia with metabolic alkalosis and hyponatremia associated or not with pulmonary disease, suspecting CF as the first option. This consideration becomes more relevant in those countries where the neonatal screening test is not widely available.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.32641/andespediatr.v93i1.3766 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Case of Primary Aldosteronism Masquerading as Bartter and Gitelman Syndromes.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness.
View Article and Find Full Text PDFComparing integrative ventilatory and renal acid-base acclimatization in lowlanders and Tibetan highlanders during ascent to 4,300 m.
Proc Natl Acad Sci U S A
January 2025
Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, AB T3E 6K6, Canada.
With over 14 million people living above 3,500 m, the study of acclimatization and adaptation to high altitude in human populations is of increasing importance, where exposure to high altitude (HA) imposes a blood oxygenation and acid-base challenge. A sustained and augmented hypoxic ventilatory response protects oxygenation through ventilatory acclimatization, but elicits hypocapnia and respiratory alkalosis. A subsequent renally mediated compensatory metabolic acidosis corrects pH toward baseline values, with a high degree of interindividual variability.
View Article and Find Full Text PDFComplexities, Benefits, Risks, and Clinical Implications of Sodium Bicarbonate Administration in Critically Ill Patients: A State-of-the-Art Review.
J Clin Med
December 2024
Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA.
Sodium bicarbonate has been used in the treatment of different pathologies, such as hyperkalemia, cardiac arrest, tricyclic antidepressant toxicity, aspirin toxicity, acute acidosis, lactic acidosis, diabetic ketoacidosis, rhabdomyolysis, and adrenergic receptors' resistance to catecholamine in patients with shock. An ongoing debate about bicarbonate's efficacy and potential harm has been raised for decades because of the lack of evidence supporting its potential efficacy. Despite the guidelines' restrictions, sodium bicarbonate has been overused in clinical practice.
View Article and Find Full Text PDFA 21st-century update of Claude Bernard's Theory about the Constancy of the Internal Environment.
Neuropsychopharmacol Hung
December 2024
Municipal Clinic of Szentendre, Internal Medicine, Szentendre, Hungary.
Article Synopsis
- The understanding of ion compartments and cell membrane functions leads to insights into intracellular ions and their roles in health, especially concerning the regulation of carbon dioxide levels as a vital signaling molecule.
- Chronic stress alters ion patterns, influencing conditions like Metabolic Syndrome and mental disorders, highlighting the connection between ion balance and overall health.
- To maintain well-being and potentially extend lifespan, it's crucial to preserve the original ion pattern through proper ventilation and possibly the administration of specific ion salts.
Case report: Pheochromocytoma-induced pseudo-Cushing's syndrome.
Front Endocrinol (Lausanne)
January 2025
Department of Internal Medicine and Endocrinology, University Clinical Centre of the Medical University of Warsaw, Warsaw, Poland.
Article Synopsis
- Non-neoplastic hypercortisolaemia, or pseudo-Cushing's syndrome (PCS), can occur due to various health conditions like depression, obesity, and diabetes, linked to overactivity of the hypothalamic-pituitary-adrenal axis.
- A 66-year-old woman exhibited symptoms such as weakness, weight loss, and poorly controlled hypertension, which led to the discovery of pheochromocytoma, a tumor that causes hormone overproduction, upon further testing.
- After undergoing surgery to remove the tumor and receiving supportive treatment, her symptoms improved significantly, confirming the diagnosis of PCS rather than traditional Cushing's syndrome.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!