La Revue de médecine interne
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Fibrillary glomerulonephritis (FGN) is a glomerular disease described since 1977, with a prevalence in renal biopsies of less than 1%. It presents as renal failure, proteinuria, haematuria and hypertension in middle-aged adults. It is defined histologically, using light microscopy, which reveals organised deposits of fibrils measuring around 20nm, which are negative for Congo red staining. ⋯ In the absence of randomised controlled trials, the recommended treatment is based on nephroprotective measures, corticosteroid therapy and possibly a second-line immunosuppressant such as rituximab. After renal transplantation, recovery or recurrence is possible. The pathophysiology of the disease is still poorly understood, and further studies are needed.
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Systemic auto-inflammatory diseases (SAIDs) are disorders associated with deregulation of innate immunity in which patients present classically with systemic inflammatory manifestations, in particular fever, skin-mucosal rashes, arthromyalgia and abdominal pain, with an increase in blood biomarkers of inflammation. At the time of their discovery, these diseases were associated with constitutional mutations in genes encoding proteins involved in innate immunity, and it was then considered that they had to begin in childhood. This dogma of constitutional mutations in SAIDs is no longer so unquestionable, since 2005 several cases of mosaicism have been reported in the literature, initially in cryopyrinopathies, but also in other SAIDs in patients with obvious clinical phenotypes and late onset of disease expression, in particular in the VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome) and very recently in MEVF gene. ⋯ So, when a clinical diagnosis seems obvious but no constitutional mutation is found by low-depth genetic analysis, it is useful to discuss with expert geneticists whether to consider another genetic approach in a child or an adult. This modifies the situations in which clinicians can evoke these diseases. This review provides an update on mosaicism in SAIDs.
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Cogan's syndrome is a condition of unknown origin, classified as a systemic vasculitis. It is characterised by a predilection for the cornea and the inner ear. It mainly affects Caucasian individuals with a sex-ratio close to one. ⋯ Therapeutic management of Cogan's syndrome, given its rarity, lacks consensus since no prospective randomised studies have been conducted to date. Corticosteroid therapy is the first-line treatment. Combination with anti-TNF therapy should be promptly discussed.
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Behcet disease (BD) is a systemic vasculitis which can involve many different organ systems. Neurological involvement (NBD) occurs in 5.3% to 59% of BD patients. The diagnosis is challenging especially in case of inaugural neurological presentation, and is based on a constellation of clinical, laboratory, and neuroimaging findings. ⋯ The management of cerebral thrombosis consists of steroids course associated with an oral anticoagulation. An early recognition of this condition is mandatory to initiate adequate therapies in order to improve outcomes and limit the risk of sequelae, relapses, or death. The aim of this review is to summarize a comprehensive review on the various neurological presentations of BD with emphasizes on diagnostic tools, prognosis, and therapeutic issues.
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Factitious disorder imposed on self (FDIS) is a mental disorder characterized by conscious manipulative behavior from patients with no clearly identifiable external objective. It affects subjects with a wide range of characteristics, only some of whom fit the stereotypical profile of the young female working in the health sector. It can take the form of a variety of symptoms or clinical signs, and is likely to involve all specialties. ⋯ Avoiding unnecessary prescriptions is essential to prevent iatrogenesis. The management of FDIS is poorly codified. In all cases, the practitioner must adopt a non-aggressive, empathetic attitude.