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Int 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 PDFJCI Insight
November 2024
Division of Nephrology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Mutations in the CLCNKB gene (1p36), encoding the basolateral chloride channel ClC-Kb, cause type 3 Bartter syndrome. We identified a family with a mixed Bartter/Gitelman phenotype and early-onset kidney failure and by employing a candidate gene approach, identified what we believe is a novel homozygous mutation (CLCNKB c.499G>T [p.
View Article and Find Full Text PDFAm J Case Rep
August 2024
Department of Geriatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Background: Type III Bartter syndrome (BS) is an autosomal recessive renal tubular disease caused by the mutation of the chloride voltage-gated channel Kb (CLCNKB) gene. This condition is characterized by renal sodium loss, hypokalemia, metabolic alkaliosis, high renin, and high aldosterone levels.
Methods: We report a case of adult type III BS caused by a novel complex heterozygous mutation of the CLCNKB gene.
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