AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES
AN X-LINKED MITOCHONDRIAL DISEASE AFFECTING CARDIAC-MUSCLE, SKELETAL-MUSCLE AND NEUTROPHIL LEUKOCYTES
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DOI：
10.1016/0022-510x(83)90209-5
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发表时间：
1983-01-01
影响因子：
4.4
通讯作者：
SOBOTKAPLOJHAR, MA
中科院分区：
文献类型：
--
作者：
BARTH, PG;SCHOLTE, HR;SOBOTKAPLOJHAR, MA
一个X连锁隐性遗传病在一个大的家系中被报道。本病以三联征或扩张型心肌病、中性粒细胞减少症和骨骼肌病为特征。未经治疗的患者都是男孩，他们在婴儿期或童年早期死于败血症或心脏失代偿。心肌细胞、中性粒细胞、骨髓细胞线粒体超微结构异常，骨骼肌细胞线粒体异常程度较轻(0~9%)。中性粒细胞骨髓细胞内可见膜包裹的空泡。I型骨骼肌纤维中的肌内脂肪滴增多。患者有间歇性乳酸血症，临界低血浆肉碱，后者在疾病期间下降，以及低肌肉肉碱(治疗前27%，治疗后35%-40%)。在口服肉碱治疗期间，他的虚弱程度有所减轻，没有心脏主诉，但他的中性粒细胞减少症并未受到影响。S分离的骨骼肌线粒体出现呼吸链异常，细胞色素c1+c、b和aa3浓度分别下降至正常对照组的29%、47%和%，抗坏血酸+TMPD[N，N，N‘’，N‘’-四甲基-对苯二胺]氧化的P：0比值降低，解偶联剂刺激的Mg2+-ATPase活性降低。肌肉AMP脱氨酶缺乏(5vs.17%)。只有1份先前报告(Neustein等人1979年)上存在X连锁线粒体心肌病，可能指的是同一实体。生化检查和血液异常(中性粒细胞减少症)是第一次报告。
An X-linked recessive disease is reported in a large pedigree. The disease is characterized by a triad or dilated cardiomyopathy, neutropenia and skeletal myopathy. The untreated patients, all boys, died in infancy or early childhood from septicemia or cardiac decompensation. Ultrastructural abnormalities were observed in mitochondria in cardiac muscle cells, neutrophil bone marrow cells and to a lesser extent (0-9%) in skeletal muscle cells. Membrane-bound vacuoles were seen in neutrophil bone marrow cells. Intramuscular fat droplets were increased in type I skeletal muscle fibers. An affected patient had intermittent lactic acidemia, borderline low plasma carnitine, the latter decreasing during periods of illness, and low muscle carnitine (27% pretreatment; 35-40% posttreatment). While on treatment with oral carnitine he had less weakness and no cardiac complaints, but his neutropenia was not affected. Respiratory chain abnormalities were observed in this patient''s isolated skeletal muscle mitochondria. Diminished concentrations of cytochromes c1 + c,b and aa3 to 29, 47 and 64% of the averaged controls, and a lowered P:0 ratio for oxidation of ascorbate + TMPD [N,N,N'',N''-tetramethyl-p-phenylenediamine], with diminished uncoupler stimulated Mg2+-ATPase activity was found. Muscle AMP deaminase was deficient (5 vs. 17%). Only 1 previous report (Neustein et al. 1979) on X-linked mitochondrial cardiomyopathy exists, which probably refers to the same entity. Biochemical studies and hematological abnormalities (neutropenia) are reported for the 1st time.