메뉴 건너뛰기




Volumn 115, Issue SUPPL.187, 2007, Pages 64-67

Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure

Author keywords

Endocrine disease; Kearns Sayre syndrome; Mitochondrial disease; Respiratory failure

Indexed keywords

CORTISONE; ENZYME ANTIBODY; FLUDROCORTISONE; INSULIN; STEROID 21 MONOOXYGENASE; THYROID PEROXIDASE ANTIBODY; THYROXINE; AUTOANTIBODY; HLA ANTIGEN;

EID: 34047219863     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2007.00850.x     Document Type: Conference Paper
Times cited : (31)

References (22)
  • 1
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmophlegia, and complete heart block: Unusual syndrome with histologic study in one of two cases
    • KEARNS TP, SAYRE GP. Retinitis pigmentosa, external ophthalmophlegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60:280-9.
    • (1958) AMA Arch Ophthalmol , vol.60 , pp. 280-289
    • KEARNS, T.P.1    SAYRE, G.P.2
  • 2
    • 0000355861 scopus 로고
    • Oxidative phosphorylation diseases
    • Scriver CR SW, Valle D eds, New York: McGraw-Hill
    • SCHONER J. Oxidative phosphorylation diseases. In: Scriver CR SW, Valle D eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995;1535-629.
    • (1995) The metabolic and molecular bases of inherited disease , pp. 1535-1629
    • SCHONER, J.1
  • 3
    • 0032980279 scopus 로고    scopus 로고
    • Mitochondrial disorders: Clinical and genetic features
    • SIMON DK, JOHNS DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111-27.
    • (1999) Annu Rev Med , vol.50 , pp. 111-127
    • SIMON, D.K.1    JOHNS, D.R.2
  • 4
    • 4143130217 scopus 로고    scopus 로고
    • Risk of developing a mitochondrial DNA deletion disorder
    • CHINNERY PF, DIMAURO S, SHANSKE S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364:592-6.
    • (2004) Lancet , vol.364 , pp. 592-596
    • CHINNERY, P.F.1    DIMAURO, S.2    SHANSKE, S.3
  • 5
    • 0026773036 scopus 로고
    • Endocrine dysfunction in Kearns-Sayre syndrome
    • HARVEY JN, BARNETT D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf) 1992;37:97-103.
    • (1992) Clin Endocrinol (Oxf) , vol.37 , pp. 97-103
    • HARVEY, J.N.1    BARNETT, D.2
  • 6
    • 0031595077 scopus 로고    scopus 로고
    • Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease
    • BOLES RG, ROE T, SENADHEERA D, MAHNOVSKI V, WONG LJ. Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. Eur J Pediatr 1998;157:643-7.
    • (1998) Eur J Pediatr , vol.157 , pp. 643-647
    • BOLES, R.G.1    ROE, T.2    SENADHEERA, D.3    MAHNOVSKI, V.4    WONG, L.J.5
  • 7
    • 0030009124 scopus 로고    scopus 로고
    • MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy
    • OHNO K, YAMAMOTO M, ENGEL AG, et al. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ann Neurol 1996;39:761-6.
    • (1996) Ann Neurol , vol.39 , pp. 761-766
    • OHNO, K.1    YAMAMOTO, M.2    ENGEL, A.G.3
  • 8
    • 0036715554 scopus 로고    scopus 로고
    • A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy
    • BERIO A, PIAZZI A. A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. Panminerva Med 2002;44:265-9.
    • (2002) Panminerva Med , vol.44 , pp. 265-269
    • BERIO, A.1    PIAZZI, A.2
  • 9
    • 0030256832 scopus 로고    scopus 로고
    • Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243
    • KOBAYASHI T, OKA Y, KATAGIRI H, et al. Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. Diabetologia 1996;39:1196- 200.
    • (1996) Diabetologia , vol.39 , pp. 1196-1200
    • KOBAYASHI, T.1    OKA, Y.2    KATAGIRI, H.3
  • 10
    • 0031656184 scopus 로고    scopus 로고
    • Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome
    • ARTUCH R, PAVIA C, PLAYAN A, et al. Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. Horm Res 1998;50:99-104.
    • (1998) Horm Res , vol.50 , pp. 99-104
    • ARTUCH, R.1    PAVIA, C.2    PLAYAN, A.3
  • 11
    • 0027939581 scopus 로고
    • Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA (LEU(UUR)) gene: A study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
    • SUZUKI S, HINOKIO Y, HIRAI S, et al. Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA (LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 1994;37:818-25.
    • (1994) Diabetologia , vol.37 , pp. 818-825
    • SUZUKI, S.1    HINOKIO, Y.2    HIRAI, S.3
  • 12
    • 33745779229 scopus 로고    scopus 로고
    • DE ANDRADE PB, RUBI B, FRIGERIO F, VAN DEN OUWELAND JM, MAASSEN JA, MAECHLER P. Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. Diabetologia 2006;49:1816-26.
    • DE ANDRADE PB, RUBI B, FRIGERIO F, VAN DEN OUWELAND JM, MAASSEN JA, MAECHLER P. Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. Diabetologia 2006;49:1816-26.
  • 13
    • 0033793974 scopus 로고    scopus 로고
    • Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure
    • VAIDYA B, PEARCE S, KENDALL-TAYLOR P. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. Clin Endocrinol (Oxf) 2000;53:403-18.
    • (2000) Clin Endocrinol (Oxf) , vol.53 , pp. 403-418
    • VAIDYA, B.1    PEARCE, S.2    KENDALL-TAYLOR, P.3
  • 15
    • 0029796530 scopus 로고    scopus 로고
    • Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion
    • ISOTANI H, FUKUMOTO Y, KAWAMURA H, et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol (Oxf) 1996;45:637-41.
    • (1996) Clin Endocrinol (Oxf) , vol.45 , pp. 637-641
    • ISOTANI, H.1    FUKUMOTO, Y.2    KAWAMURA, H.3
  • 16
    • 0027268052 scopus 로고
    • Mitochondrial gene mutation in islet-cell-antibody- positive patients who were initially non-insulin-dependent diabetics
    • OKA Y, KATAGIRI H, YAZAKI Y, MURASE T, KOBAYASHI T. Mitochondrial gene mutation in islet-cell-antibody- positive patients who were initially non-insulin-dependent diabetics. Lancet 1993;342:527-8.
    • (1993) Lancet , vol.342 , pp. 527-528
    • OKA, Y.1    KATAGIRI, H.2    YAZAKI, Y.3    MURASE, T.4    KOBAYASHI, T.5
  • 17
    • 0022368402 scopus 로고
    • Pulmonary function and ventilatory response to chemical stimuli in familial myopathy
    • WENG TR, SCHULTZ GE, CHANG CH, NIGRO MA. Pulmonary function and ventilatory response to chemical stimuli in familial myopathy. Chest 1985;88:488-95.
    • (1985) Chest , vol.88 , pp. 488-495
    • WENG, T.R.1    SCHULTZ, G.E.2    CHANG, C.H.3    NIGRO, M.A.4
  • 18
    • 0023905548 scopus 로고
    • Mitochondrial encephalomyopathy with sleep apnea
    • TATSUMI C, TAKAHASHI M, YORIFUJI S, et al. Mitochondrial encephalomyopathy with sleep apnea. Eur Neurol 1988;28:64-9.
    • (1988) Eur Neurol , vol.28 , pp. 64-69
    • TATSUMI, C.1    TAKAHASHI, M.2    YORIFUJI, S.3
  • 19
    • 0023547045 scopus 로고
    • Automatic respiratory failure: Sleep studies and Leigh's disease (case report)
    • CUMMISKEY J, GUILLEMINAULT C, DAVIS R, DUNCAN K, GOLDEN J. Automatic respiratory failure: sleep studies and Leigh's disease (case report). Neurology 1987;37:1876-8.
    • (1987) Neurology , vol.37 , pp. 1876-1878
    • CUMMISKEY, J.1    GUILLEMINAULT, C.2    DAVIS, R.3    DUNCAN, K.4    GOLDEN, J.5
  • 20
    • 0025177328 scopus 로고
    • Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies
    • BAROHN RJ, CLANTON T, SAHENK Z, MENDELL JR. Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies. Neurology 1990;40:103-6.
    • (1990) Neurology , vol.40 , pp. 103-106
    • BAROHN, R.J.1    CLANTON, T.2    SAHENK, Z.3    MENDELL, J.R.4
  • 21
    • 0017237183 scopus 로고
    • Depressed ventilatory response in oculocraniosomatic neuromuscular disease
    • CARROLL JE, ZWILLICH C, WEIL JV, BROOKE MH. Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology 1976;26:140-6.
    • (1976) Neurology , vol.26 , pp. 140-146
    • CARROLL, J.E.1    ZWILLICH, C.2    WEIL, J.V.3    BROOKE, M.H.4
  • 22
    • 0034919482 scopus 로고    scopus 로고
    • Hypoxic ventilatory depression in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
    • OSANAI S, TAKAHASHI T, ENOMOTO H, et al. Hypoxic ventilatory depression in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Respirology 2001;6:163-6.
    • (2001) Respirology , vol.6 , pp. 163-166
    • OSANAI, S.1    TAKAHASHI, T.2    ENOMOTO, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.