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Zhongguo Dang Dai Er Ke Za Zhi =... May 2024To summarize the clinical characteristics and genetic variations in children with cystic fibrosis (CF) primarily presenting with pseudo-Bartter syndrome (CF-PBS), with... (Review)
Review
OBJECTIVES
To summarize the clinical characteristics and genetic variations in children with cystic fibrosis (CF) primarily presenting with pseudo-Bartter syndrome (CF-PBS), with the aim to enhance understanding of this disorder.
METHODS
A retrospective analysis was performed on the clinical data of three children who were diagnosed with CF-PBS in Hunan Children's Hospital from January 2018 to August 2023, and a literature review was performed.
RESULTS
All three children had the onset of the disease in infancy. Tests after admission showed hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, and genetic testing showed the presence of compound heterozygous mutation in the gene. All three children were diagnosed with CF. Literature review obtained 33 Chinese children with CF-PBS, with an age of onset of 1-36 months and an age of diagnosis of 3-144 months. Among these children, there were 29 children with recurrent respiratory infection or persistent pneumonia (88%), 26 with malnutrition (79%), 23 with developmental retardation (70%), and 18 with pancreatitis or extrapancreatic insufficiency (55%). Genetic testing showed that c.2909G>A was the most common mutation site of the gene, with a frequency of allelic variation of 23% (15/66).
CONCLUSIONS
CF may have no typical respiratory symptoms in the early stage. The possibility of CF-PBS should be considered for infants with recurrent hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, especially those with malnutrition and developmental retardation. genetic testing should be performed as soon as possible to help with the diagnosis of CF.
Topics: Humans; Cystic Fibrosis; Male; Female; Infant; Cystic Fibrosis Transmembrane Conductance Regulator; Bartter Syndrome; Child, Preschool; Mutation; Child; Retrospective Studies
PubMed: 38802912
DOI: 10.7499/j.issn.1008-8830.2310080 -
Obstetric Medicine Jun 2024Hypercalcemia is rare in women of child-bearing age, and most cases are due to primary hyperparathyroidism. A 28-year-old woman, 14 weeks pregnant with dichorionic...
Hypercalcemia is rare in women of child-bearing age, and most cases are due to primary hyperparathyroidism. A 28-year-old woman, 14 weeks pregnant with dichorionic diamniotic twins, presented to hospital with vomiting, muscle cramps, and weakness. She had been taking calcium carbonate for gastric reflux and nausea from 5 weeks of gestation. Investigations revealed severe hypercalcemia, metabolic alkalosis, and renal injury. She was transferred to intensive care, receiving fluid resuscitation and subcutaneous calcitonin followed by dialysis. Investigations revealed suppressed PTH and PTH-related peptide, negative malignancy screening and low vitamin D level. Calcium and renal function quickly normalized and with cessation of calcium carbonate remained normal throughout the rest of pregnancy. Reports of calcium-alkali syndrome causing severe hypercalcemia are scarce, with most cases occurring later in gestation. This case represents a dramatic presentation requiring renal replacement therapy early in twin gestation.
PubMed: 38784190
DOI: 10.1177/1753495X221145574 -
Cureus Apr 2024Cushing's syndrome (CS) arises from an excess of endogenous or exogenous cortisol, with Cushing's disease specifically implicating a pituitary adenoma and exaggerated...
Cushing's syndrome (CS) arises from an excess of endogenous or exogenous cortisol, with Cushing's disease specifically implicating a pituitary adenoma and exaggerated adrenocorticotropic hormone (ACTH) production. Typically, Cushing's disease presents with characteristic symptoms such as weight gain, central obesity, moon face, and buffalo hump. This case report presents an unusual manifestation of CS in a 48-year-old male with a history of hypertension, where severe hypokalemia was the primary presentation. Initial complaints included bilateral leg swelling, muscle weakness, occasional shortness of breath, and a general feeling of not feeling well. Subsequent investigations revealed hypokalemia, metabolic alkalosis, and an abnormal response to dexamethasone suppression, raising concerns about hypercortisolism. Further tests, including 24-hour urinary free cortisol and ACTH testing, confirmed significant elevations. Brain magnetic resonance imaging (MRI) identified a pituitary macroadenoma, necessitating neurosurgical intervention. This case underscores the rarity of CS presenting with severe hypokalemia, highlighting the diagnostic challenges and the crucial role of a collaborative approach in managing such intricate cases.
PubMed: 38774180
DOI: 10.7759/cureus.58695 -
CEN Case Reports May 2024Colistin is an effective antibiotic utilized for the treatment of Gram-negative bacterial infections with coverage against a broad spectrum of bacteria. Despite the...
Colistin is an effective antibiotic utilized for the treatment of Gram-negative bacterial infections with coverage against a broad spectrum of bacteria. Despite the broad antibacterial coverage, this antibiotic can have serious complications such as acute kidney injury. Colistin also can have a toxic effect on the loop of Henle, causing tubulopathy, electrolyte imbalances, and the occurrence of Bartter-like syndrome (BLS) which is characterized by magnesium and calcium disturbances, polyuria, and metabolic alkalosis. We here report a 32-year-old male with a history of multiple trauma due to an accident that received colistin therapy for Pseudomonas isolation from wound culture on the 5th day of hospitalization. Polyuria, hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalcemia were developed on the first week of colistin administration. The patient received colistin until the 21st day of hospitalization. Serum calcium and magnesium levels became normal 1 day after stopping colistin, while urine volume and metabolic alkalosis resolved 6 days after colistin discontinuing. Therefore, it is crucial to adjust the dose of colistin to minimize its toxicity.
PubMed: 38771479
DOI: 10.1007/s13730-024-00891-1 -
Cureus May 2024Salicylate exposure and toxicity are associated with a myriad of symptoms and signs, and a comprehensive knowledge of diagnosing and treating salicylate poisoning is...
Salicylate exposure and toxicity are associated with a myriad of symptoms and signs, and a comprehensive knowledge of diagnosing and treating salicylate poisoning is needed. Here, we present a case of a 29-year-old female with a past medical history of schizoaffective disorder and bipolar disorder with multiple suicide attempts brought to our hospital, Nassau University Medical Center, East Meadow, by the Emergency Medical Service (EMS) due to an intentional overdose of 300 pills of acetylsalicylic acid. She had mixed acid-base disturbance with respiratory alkalosis and metabolic acidosis. She was started on bicarbonate infusion in the emergency department to maintain a blood pH of 7.5 and to maintain a urine pH of more than 7.5. As her salicylate levels were 98.2 at admission with altered mental status, she was started on slow, low-efficiency hemodialysis. A few hours later, she developed a rebound increase in salicylate levels to 129, associated with a change in mental status and the patient was more confused. She was started on regular hemodialysis with improvement in mental status and elimination of salicylate steadily. Given the extensive nature of toxic effects, a patient with severe salicylate toxicity can deteriorate rapidly and can be challenging to manage. As there is no specific antidote for aspirin, the goals of therapy depend primarily on limiting the absorption of salicylate, enhancing elimination, and providing supportive care. Monitoring the acid-base status and serum salicylate levels closely and monitoring for rebound increase in salicylate levels is of paramount importance. Aggressive hydration to maintain euvolemia, alkalinization, aggressive replenishment of potassium and magnesium, activated charcoal to decrease absorption, and hemodialysis remain the cornerstones of treatment.
PubMed: 38746490
DOI: 10.7759/cureus.60241 -
Cureus May 2024Abiraterone, an inhibitor of both 17α-hydroxylase and 17,20-lyase, is considered a novel, state-of-the-art, life-prolonging therapy in the urologists' arsenal when...
Abiraterone, an inhibitor of both 17α-hydroxylase and 17,20-lyase, is considered a novel, state-of-the-art, life-prolonging therapy in the urologists' arsenal when treating prostate cancer. Despite its efficacy, it is linked with an increased risk of cardiovascular adverse effects. Herein, we report a case in which the administration of abiraterone resulted in a full-blown syndrome of apparent mineralocorticoid excess despite the concomitant administration of prednisolone; that is, secondary hypertension, hypokalemia, metabolic alkalosis, as well as elevated levels of adrenocorticotropic hormone (ACTH).
PubMed: 38746488
DOI: 10.7759/cureus.60299 -
European Journal of Medical Research May 2024The base excess value (BE, mmol/L), not standard base excess (SBE), correctly calculated including pH, pCO (mmHg), sO (%) and cHb (g/dl) is a diagnostic tool for several... (Review)
Review
The base excess value (BE, mmol/L), not standard base excess (SBE), correctly calculated including pH, pCO (mmHg), sO (%) and cHb (g/dl) is a diagnostic tool for several in vivo events, e.g., mortality after multiple trauma or shock, acidosis, bleeding, clotting, artificial ventilation. In everyday clinical practice a few microlitres of blood (arterial, mixed venous or venous) are sufficient for optimal diagnostics of any metabolic acidosis or alkalosis.The same applies to a therapeutic tool-then referred to as potential base excess (BEpot)-for several in vitro assessments, e.g., solutions for infusion, sodium bicarbonate, blood products, packed red blood cells, plasma. Thus, BE or BEpot has been a parameter with exceptional clinical significance since 2007.
Topics: Humans; Acidosis; Acid-Base Imbalance; Acid-Base Equilibrium; Alkalosis
PubMed: 38735983
DOI: 10.1186/s40001-024-01796-6 -
BMC Pediatrics May 2024Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because...
INTRODUCTION
Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations.
CASE PRESENTATION
A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.269_270dup and c.2006 C > A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency.
CONCLUSIONS
CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.
Topics: Humans; Sulfate Transporters; Diarrhea; Infant; Metabolism, Inborn Errors; Mutation; Chloride-Bicarbonate Antiporters; Female; Heterozygote; Male; Polyhydramnios; Potassium Chloride; East Asian People
PubMed: 38704545
DOI: 10.1186/s12887-024-04788-x -
Cureus Mar 2024Chronic obstructive pulmonary disease (COPD) often coexists with hypertension and hypothyroidism, posing challenges in management. Physiotherapy is crucial for improving...
Novelty of Physiotherapy Management in a Classic Case of Chronic Obstructive Pulmonary Disease in an 84-Year-Old Male Patient with Hypertension and Well-Controlled Hypothyroidism: A Case Report.
Chronic obstructive pulmonary disease (COPD) often coexists with hypertension and hypothyroidism, posing challenges in management. Physiotherapy is crucial for improving respiratory function and quality of life in COPD patients. This case report details the physiotherapy management of an 84-year-old male with COPD, hypertension, and well-controlled hypothyroidism. The patient presented with worsening cough, breathlessness, and barrel chest. Diagnostic investigations confirmed COPD with respiratory alkalosis, hypoxemia, and well-controlled hypothyroidism. Pharmaceutical management was initiated alongside intensive physiotherapy interventions. A two-week rehabilitation program was tailored to the patient's COPD condition. It included deep breathing exercises, relaxation techniques, and aerobic activities to improve respiratory function and exercise tolerance. Physiotherapy sessions focused on patient education with medical treatment. Significant improvements were noted in dyspnea grading, perceived exertion rate, and thoracic excursion post-rehabilitation. Follow-up assessments showed sustained benefits with improved daily activities and reduced dyspnea. This case underscores the efficacy of multidisciplinary management, highlighting the essential role of physiotherapy in optimizing outcomes for COPD patients with comorbidities.
PubMed: 38690482
DOI: 10.7759/cureus.57318