Cerebral salt-wasting syndrome and the syndrome of inappropriate antidiuresis (SIAD) are the most important causes of non-iatrogenic hyponatraemia that can significantly complicate various brain diseases. Salt wasting without an underlying CNS disease may have been disregarded so far by clinicians and has been described as renal salt-wasting (RSW) in patients as drug side effect (eg, cisplatin), in older people with various common diseases (eg, hip fracture, pulmonary infections) and other sporadic conditions. In Guillain-Barré Syndrome (GBS), however, hyponatraemia has been described mainly as SIAD. However, symptoms of hyponatraemia rarely develop in GBS. Here, we report on a woman with GBS with dominant symptoms of dysautonomia and moderate severe hyponatraemia. We could identify RSW as part of the autonomic dysfunction that significantly contributed to disease worsening.
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http://dx.doi.org/10.1136/jnnp.2009.192369 | DOI Listing |
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFCureus
December 2024
Central Research Service, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, IND.
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms.
View Article and Find Full Text PDFJ Clin Med
December 2024
NYU Grossman Long Island School of Medicine, 101 Mineola Blvd., Mineola, NY 11501, USA.
A knowledge gap may exist when attempting to identify the pathogenetic mechanisms resulting in the syndrome of inappropriate antidiuretic hormone (SIADH) or hypotonic hyponatremia. Ectopic secretion of antidiuretic hormone [ADH] is the classic cause of SIADH. But another form of inappropriate secretion of ADH occurs when interleukin 6 is activated.
View Article and Find Full Text PDFGut Microbes
December 2025
Metabolism and Nutrition Research Group, Louvain Drug Research Institute, UCLouvain, Université catholique de Louvain, Brussels, Belgium.
Alterations in bile acid profile and pathways contribute to hepatic inflammation in cancer cachexia, a syndrome worsening the prognosis of cancer patients. As the gut microbiota impinges on host metabolism through bile acids, the current study aimed to explore the functional contribution of gut microbial dysbiosis to bile acid dysmetabolism and associated disorders in cancer cachexia. Using three mouse models of cancer cachexia (the C26, MC38 and HCT116 models), we evidenced a reduction in the hepatic levels of several secondary bile acids, mainly taurodeoxycholic (TDCA).
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