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Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn, M, Salzer, E, Simonitsch-Klupp, I, Rath, J, Wagner, M, Haack, TB, Strom, TM, Schänzer, A, Kilimann, MW, Schmidt, RLJ, et al
Journal of neurology. 2018;(2):394-401
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Abstract
A subset of patients with polyglucosan body myopathy was found to have underlying mutations in the RBCK1 gene. Affected patients may display diverse symptoms ranging from skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency. It was suggested that the exact localization of the mutation within the gene might be responsible for the specific phenotype, with N-terminal mutations causing severe immunological dysfunction and mutations in the middle or C-terminal part leading to a myopathy phenotype. We report the clinical, immunological and genetic findings of two unrelated individuals suffering from a childhood-onset RBCK1-asscociated disease caused by the same homozygous truncating mutation (NM_031229.2:c.896_899del, p.Glu299Valfs*46) in the middle part of the RBCK1 gene. Our patients suffered from a myopathy with cardiac involvement, but in contrast to previous reports on mutations in this part of the gene, also displayed signs of autoinflammation and immunodeficiency. Our report suggests that RBCK1 mutations at locations that were previously thought to lack immunological features may also present with immunological dysfunction later in the disease course. This notably broadens the genotype-phenotype correlation of RBCK1-related polyglucosan body myopathy.
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Icodextrin-induced acute pancreatitis in a peritoneal dialysis patient: a case report and literature review
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Rubinstein, S, Franjul, R, Surana, S, Fogel, J
Clinical nephrology. 2016;(11):283-286
Abstract
The 7.5% icodextrin solution is widely used for long-dwell in peritoneal dialysis (PD) regimens as an alternative osmotic agent to glucose. It has been defined as a biocompatible agent because of its iso-osmolarity and is generally safe and well tolerated. Icodextrin and its hydrolyzed metabolites are found in systemic circulation. In serum, icodextrin interferes with amylase determination causing a significantly decreased plasma amylase level making it unreliable for the diagnosis of acute pancreatitis. Lipase measurement provides an alternative and accurate method for diagnosing acute pancreatitis (AP) in patients using icodextrin. Icodextrin-induced acute pancreatitis is not well described. The literature appears limited to two case reports. We describe a case of a man with end-stage renal disease (ESRD) on PD who developed acute pancreatitis following icodextrin use. We also provide a novel possible mechanism for understanding how icodextrin causes AP.
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