1.
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira, CR, Crow, YJ, Gahl, WA, Gardner, PJ, Goldbach-Mansky, R, Hur, S, de Jesús, AA, Nehrebecky, M, Park, JW, Briggs, TA
Journal of clinical immunology. 2019;(1):75-80
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Abstract
PURPOSE Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. METHODS We undertook clinical phenotyping, next-generation sequencing, and functional studies of type I interferon production in patient whole blood and assessed the type I interferon promoter activity in HEK293 cells transfected with wild-type or mutant DDX58 stimulated with Poly I:C. RESULTS We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon. CONCLUSIONS DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.
2.
[Calcific uremic arteriolopathy in hemodialysis patient, review of literature through five cases reports].
Chettati, M, Adnouni, A, Fadili, W, Laouad, I
Nephrologie & therapeutique. 2018;(6):439-445
Abstract
Calcific uremic arteriolopathy, also called calciphylaxis, is a rare and severe disorder that presents with skin ischemia and necrosis, sometimes it presents with systemic necrosis, the process is secondary to the obliteration of the arterioles first by sub-intimal calcium deposits and then by thrombosis. These lesions can often lead to death due to infectious complications and comorbidities such as diabetes, obesity, arteritis, diffuse vascular calcifications, heart disease and undernutrition. The diagnosis is suggested by the characteristic ischemic skin lesions and their distribution, often bilateral and painful, associeted with calcific uremic arteriolopathy risk factors (phosphocalcic abnormalities, anti-vitamin K). The presence of radiological vascular calcifications is highly suggesting the diagnosis, but remains not very specific. The indication of skin biopsy is rare and reserved for difficult diagnoses. The goals of treatment are: reduce the extension of calcification and treatment of mineral and bone metabolism disorders of end-stage renal disease, dialysis adequacy, local treatment of skin lesions, tissue oxygenation, pain management, discontinuation and contraindication of medications that may contribute to the disorder. We propose to discuss it from a review of the literature and illustrate it with five clinical cases.