RENAL AND SKIN INVOLVEMENT IN A PATIENT WITH COMPLETE KEARNS-SAYRE SYNDROME

被引：32

作者：

MORI, K ^{[1
]}

NARAHARA, K ^{[1
]}

NINOMIYA, S ^{[1
]}

GOTO, Y ^{[1
]}

NONAKA, I ^{[1
]}

机构：

[1] NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV ULTRASTRUCT RES,TOKYO,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 04期

关键词：

DETONI-FANCONI-DEBRE SYNDROME; ANHIDROSIS; CYTOCHROME-C OXIDASE; MITOCHONDRIAL DNA DELETION;

D O I：

10.1002/ajmg.1320380417

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debre syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mitochondrial DNA (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total mtDNAs isolated from the muscle and kidney. On electron microscopy, epithelial cells of the proximal and distal renal tubules and the sweat glands showed an increased number of giant mitochondria with complicated and concentric cristae. This appears to be the first report of complete KSS associated with renal and skin involvement. Data obtained in this patient provide important information on the clinical heterogeneity and tissue specificity of CCO deficiency.

引用

页码：583 / 587

页数：5

共 17 条

[1] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS [J].

BOOKELMAN, H ;

TRIJBELS, JMF ;

SENGERS, RCA ;

JANSSEN, AJM .

BIOCHEMICAL MEDICINE, 1978, 19 (03) :366-373

[2] MITOCHONDRIAL MYOPATHIES [J].

DIMAURO, S ;

BONILLA, E ;

ZEVIANI, M ;

SERVIDEI, S ;

DEVIVO, DC ;

SCHON, EA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :113-128

[3]

DIMAURO S, 1985, ANN NEUROL, V17, P512

[4]

ESTABROOK RW, 1967, METHOD ENZYMOL, P366

[5] A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].

FEINBERG, AP ;

VOGELSTEIN, B .

ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13

[6] DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHIES [J].

HOLT, IJ ;

HARDING, AE ;

MORGANHUGHES, JA .

NATURE, 1988, 331 (6158) :717-719

[7] A PARTIAL DEFICIENCY OF CYTOCHROME-C OXIDASE IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA [J].

JOHNSON, MA ;

TURNBULL, DM ;

DICK, DJ ;

SHERRATT, HSA .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 60 (01) :31-53

[8] KEARNS SHY SYNDROME - MULTISYSTEM DISEASE WITH MITOCHONDRIAL ABNORMALITY DEMONSTRATED IN SKELETAL-MUSCLE AND SKIN [J].

KARPATI, G ;

CARPENTER, S ;

LARBRISSEAU, A ;

LAFONTAINE, R .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1973, 19 (02) :133-151

[9]

MORAES CT, 1989, MITOCHONDRIAL DNA DE, V320, P1293

[10]

OHO Y, 1989, J JPN PEDIAT SOC, V93, P1337

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