RT Journal Article
T1 Cystinosis distal myopathy, novel clinical, pathological and genetic features.
A1 Cabrera-Serrano, Macarena
A1 Junckerstorff, Reimar C
A1 Alisheri, Ali
A1 Pestronk, Alan
A1 Laing, Nigel G
A1 Weihl, Conrad C
A1 Lamont, Phillipa J
K1 CTNS
K1 Cystinosis
K1 Distal myopathy
K1 Slow myosin
AB 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.
YR 2017
FD 2017-05-15
LK http://hdl.handle.net/10668/11322
UL http://hdl.handle.net/10668/11322
LA en
DS RISalud
RD Apr 9, 2025