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Title: Cystinosis distal myopathy, novel clinical, pathological and genetic features.
Authors: Cabrera-Serrano, Macarena
Junckerstorff, Reimar C
Alisheri, Ali
Pestronk, Alan
Laing, Nigel G
Weihl, Conrad C
Lamont, Phillipa J
Keywords: CTNS;Cystinosis;Distal myopathy;Slow myosin
metadata.dc.subject.mesh: Amino Acid Transport Systems, Neutral
Cardiac Myosins
Distal Myopathies
Family Health
Microscopy, Electron
Middle Aged
Muscle, Skeletal
Myosin Heavy Chains
Young Adult
Issue Date: 15-May-2017
Abstract: Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. We present a comprehensive clinical, pathological and genetic description of 3 patients from 2 families with nephropathic cystinosis. Intrafamiliar variability was detected in one family in which one sibling developed a severe distal myopathy while the other sibling did not show any signs of skeletal muscle involvement. One of the patients was on treatment with Cysteamine for over 12 years but still developed the usual complications of nephropathic cystinosis in his twenties. Novel pathological findings consisting in sarcoplasmic deposits reactive for slow myosin were identified. Three previously known and one novel mutation are reported. Nephropathic cystinosis should be included in the differential diagnosis of distal myopathies in those with early renal failure. Novel clinical and pathological features are reported here contributing to the characterization of the muscle involvement in nephropathic cystinosis.
metadata.dc.identifier.doi: 10.1016/j.nmd.2017.05.010
Appears in Collections:Producción 2020

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