Gordonʼs syndrome

Stiefel, Pablo; García-Morillo, Salvador; Miranda, María Luisa; Garcia-donas, M. A.; Pamies, E.; Villar, José R.; Carneado, J

doi:10.1097/00004872-200018090-00019

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…Delayed diagnosis is associated with poor outcomes. 2,4 Lesions similar to those that were seen on the peritoneal surface in our patient at laparotomy have also been reported on the surface of the liver of a patient with hepatic cryptococcosis. 5 Although our patient underwent early laparotomy, it is highly likely that the diagnosis could have been made serologically through measurement of cryptococcal antigen had the aetiology been suspected preoperatively.…”

Section: Discussionsupporting

confidence: 78%

Cryptococcal peritonitis as the first AIDS-defining illness in Zimbabwe

Ferrand

Maunganidze²,

Mgodi³

2006

Trop Doct

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A 23-year-old immunocompetent woman presented with a two-month history of fungating left shoulder and left elbow swellings associated with fever, weight loss and anaemia. X-rays showed lytic destruction of the lateral third of the left clavicle and distal half of the left humerus. Histology of biopsy specimen confirmed African histoplasmosis.The lesion resolved following treatment with ketoconazole.

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Section: Discussionsupporting

confidence: 78%

Cryptococcal peritonitis as the first AIDS-defining illness in Zimbabwe

Ferrand

Maunganidze²,

Mgodi³

2006

Trop Doct

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Familial or Genetic Primary Aldosteronism and Gordon Syndrome

Stowasser

Pimenta

Gordon

2011

Endocrinology and Metabolism Clinics of North America

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Epithelial Sodium Channel and the Control of Sodium Balance: Interaction Between Genetic and Environmental Factors

Rossier

Pradervand

Schild

et al. 2002

Annu. Rev. Physiol.

344

284

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The epithelial sodium channel (ENaC) expressed in aldosterone-responsive epithelial cells of the kidney and colon plays a critical role in the control of sodium balance, blood volume, and blood pressure. In lung, ENaC has a distinct role in controlling the ionic composition of the air-liquid interface and thus the rate of mucociliary transport. Loss-of-function mutations in ENaC cause a severe salt-wasting syndrome in human pseudohypoaldosteronism type 1 (PHA-1). Gain-of-function mutations in ENaC beta and gamma subunits cause pseudoaldosteronism (Liddle's syndrome), a severe form of salt-sensitive hypertension. This review discusses genetically defined forms of a salt sensitivity and salt resistance in human monogenic diseases and in animal models mimicking PHA-1 or Liddle's syndrome. The complex interaction between genetic factors (ENaC mutations) and the risk factor (salt intake) can now be studied experimentally. The role of single-nucleotide polymorphisms (SNPs) in determining salt sensitivity or salt resistance in general populations is one of the main challenges of the post-genomic era.

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Gordonʼs syndrome

Cited by 4 publications

References 13 publications

Cryptococcal peritonitis as the first AIDS-defining illness in Zimbabwe

Cryptococcal peritonitis as the first AIDS-defining illness in Zimbabwe

Familial or Genetic Primary Aldosteronism and Gordon Syndrome

Epithelial Sodium Channel and the Control of Sodium Balance: Interaction Between Genetic and Environmental Factors

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