In congenital analbuminemia (CAA), mutations in the albumin gene result in a severe deficiency or absence of plasma albumin. Only about 90 cases have been reported to date, but the specific features of glucose and lipid metabolism in congenital analbuminemia have only been studied in a rat model of analbuminemia. We report the case of a female patient hospitalized for a streptococcal skin infection who showed recurrent hypoglycemia. A diagnosis of CAA was confirmed by mutation analysis and by the detection of a single base variation in the gene. Hypoglycemia was first documented after a fasting period during acute illness. Recurrent hypoglycemia persisted despite good general condition and normal nutrition during antimicrobial therapy with moxifloxacin. Several contributing factors causing this hypoglycemia can be discussed. Individuals with CAA are prone to adverse drug effects caused by changes in drug-protein binding properties. It is unclear if specific changes of glucose and lipid metabolism in CAA constitute a risk factor for hypoglycemia.
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http://dx.doi.org/10.1155/2020/8452564 | DOI Listing |
Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFBackground: Insulinoma is a neuroendocrine tumor, the main manifestation of which is hypoglycemia. However, the symptoms of hypoglycemia can be non-specific for a long time, especially outside provocative conditions, and quite often the tumor manifests from a life-threatening condition - hypoglycemic coma. In this regard, timely laboratory diagnosis of insulinoma and determination of its aggressive course is one of the priorities in modern researches.
View Article and Find Full Text PDFNon-islet cell tumor hypoglycemia (NICTH) is a paraneoplastic syndrome associated with non-mesenchymal-derived and epithelial tumors. A 37-year-old male with stage IVB hepatocellular carcinoma (HCC) and pulmonary metastases presented with recurrent hypoglycemia despite glucose supplementation. Laboratory findings revealed low insulin growth factor 1 (IGF-1) (15 ng/mL), elevated insulin growth factor 2 (IGF-2) (395 ng/ml), and an IGF-2:IGF-1 ratio of 26:1, consistent with NICTH.
View Article and Find Full Text PDFBiostatistics
December 2024
Department of Statistics, University of Connecticut, 215 Glenbrook Road Unit 4120, Storrs, CT 06269, United States.
Patients with type 2 diabetes need to closely monitor blood sugar levels as their routine diabetes self-management. Although many treatment agents aim to tightly control blood sugar, hypoglycemia often stands as an adverse event. In practice, patients can observe hypoglycemic events more easily than hyperglycemic events due to the perception of neurogenic symptoms.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
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