Cabrera-Serrano Macarena, Junckerstorff Reimar C, Alisheri Ali, Pestronk Alan, Laing Nigel G, Weihl Conrad C, Lamont Phillipa J
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, 41013 Seville, Spain.
Section of Neuropathology, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, WA, Australia; Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
Neuromuscul Disord. 2017 Sep;27(9):873-878. doi: 10.1016/j.nmd.2017.05.010. Epub 2017 May 15.
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.
肾病性胱氨酸病是一种常染色体隐性溶酶体疾病，其中胱氨酸无法从溶酶体中排出以在细胞质中完成其降解，从而在组织中蓄积。一些患者会出现主要累及手部肌肉的远端肌病。文献中仅有5例患者的肌病病理学描述。我们对来自2个家庭的3例肾病性胱氨酸病患者进行了全面的临床、病理和基因描述。在一个家庭中检测到家族内变异性，其中一个兄弟姐妹出现严重的远端肌病，而另一个兄弟姐妹未表现出任何骨骼肌受累迹象。其中一名患者接受半胱胺治疗超过12年，但在二十多岁时仍出现了肾病性胱氨酸病的常见并发症。发现了新的病理表现，即对慢肌球蛋白呈反应性的肌浆内沉积物。报告了3个先前已知的突变和1个新突变。对于早期肾衰竭患者，肾病性胱氨酸病应纳入远端肌病的鉴别诊断。本文报告了新的临床和病理特征，有助于对肾病性胱氨酸病的肌肉受累情况进行特征描述。
