Bartter's syndrome, chondrocalcinosis and nephrogenic hypomagnesemia in an adult. Bartter's syndrome, chondrocalcinosis and nephrogenic hypomagnesemia in an adult. Bartter's syndrome, initially described in children, becomes a controversial entity when it is observed in adults, as it cannot be dissociated easily from the pseudo Bartter's syndrome caused by an abuse of diuretics or provoked by surreptitious vomiting. Yet its association with chondrocalcinosis, about ten cases of which have already been published and which is not reproducible by prolonged diuretic treatment, seems to give it some authenticity. The link between the two conditions might well be the low blood magnesium level observed significantly in both diseases and constantly when they are associated. This hypomagnesaemia is of renal origin and it may reflect a complex tubular disorder which also includes a defect of chloride reabsorption by the tubule. We report here a case of diffuse chondrocalcinosis and Bartter-like syndrome in a 38-year old woman, leading to the discovery of nephrogenic hypomagnesaemia.
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Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Bartter syndrome is a rare genetic disorder that often presents in the early phase of life and is caused by mutations in multiple genes encoding the transporters and channels, which are responsible for the reabsorption of various ions in the nephrons. Clinically, it presents with vomiting, failure to thrive, and dehydration. Rare instances of acquired Bartter syndrome have been linked to sarcoidosis, tuberculosis, and autoimmune diseases.
View Article and Find Full Text PDFJ Am Soc Nephrol
January 2025
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université Paris Cité, F-75006 Paris, France.
The renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare and we hypothesize that they are underdiagnosed.
View Article and Find Full Text PDFInt Forum Allergy Rhinol
January 2025
Section of Otorhinolaryngology-Head and Neck Surgery, Department of Neuroscience, University of Padova, Padova, Italy.
Introduction: Olfactory neuroblastoma (ONB) is a rare malignant tumor originating from the olfactory neuroepithelium, typically within the sinonasal cavity. Cases of ONB originating outside of the olfactory cleft area are extremely rare and are referred to as "ectopic" (eONB), in contrast to "orthotopic" tumors (oONB). ONB has been associated with paraneoplastic syndromes (PNSs), including the syndrome of inappropriate antidiuretic hormone secretion (SIADH).
View Article and Find Full Text PDFAnn Med Surg (Lond)
December 2024
Department of Pharmacy, Faculty of Allied Health Sciences, Daffodil International University, Dhaka, Bangladesh.
Introduction And Importance: Bartter syndrome is a rare autosomal recessive disorder affecting renal tubular function leading to disturbances in electrolyte and volume homeostasis. It can also manifest as Bartter-like syndrome (BLS), a rare side effect of certain medications. Polymyxin-B, an antibiotic used to treat multidrug-resistant infections is infrequently associated with BLS.
View Article and Find Full Text PDFCureus
October 2024
Medicine, All India Institute of Medical Sciences, Raipur, Raipur, IND.
Hypokalemia is known to manifest as neurological weakness and cardiac rhythm disturbances. Severe hypokalemia can be life-threatening and needs prompt recognition and management. However, the workup for hypokalemia is equally essential to prevent future recurrences and complications.
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