Unusual exocrine complication of pancreatitis in mitochondrial disease

Brain and Development

Volumn 35, Issue 7, 2013, Pages 654-659

  Ishiyama, Akihiko ^a   Komaki, Hirofumi ^a   Saito, Takashi ^a   Saito, Yoshiaki ^a   Nakagawa, Eiji ^a   Sugai, Kenji ^a   Itagaki, Yusuke ^b   Matsuzaki, Koji ^b   Nakura, Michiaki ^c   Nishino, Ichizo ^d   Goto, Yu ichi ^d   Sasaki, Masayuki ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b Suita Municipal Hospital   (Japan)

^c Mito Red Cross Hospital   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

CPEO; MELAS; Mitochondrial disease; Pancreatitis

Indexed keywords

AMYLASE; BICARBONATE; CAMOSTAT MESILATE; CEFOPERAZONE; DICHLOROACETIC ACID; FAMOTIDINE; GABEXATE MESILATE; THIAMINE; TRIACYLGLYCEROL LIPASE; UBIDECARENONE; ULINASTATIN;

ACUTE PANCREATITIS; ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY; MELAS SYNDROME; PANCREATITIS; PRESCHOOL CHILD; RECURRENT DISEASE; SCHOOL CHILD; TREATMENT OUTCOME;

ADULT; CHILD; FEMALE; HUMANS; MITOCHONDRIAL DISEASES; PANCREATITIS;

EID: 84879463746     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.10.015     Document Type: Article

References (27)

1. Schapira A.H. Mitochondrial disease. Lancet 2006, 368:70-82.
2. Chinnery P.F., Turnbull D.M. Mitochondrial DNA and disease. Lancet 1999, 354(Suppl. 1):17-21.
3. Hom X.B., Lavine J.E. Gastrointestinal complications of mitochondrial disease. Mitochondrion 2004, 4:601-607.
4. Dougherty F.E., Ernst S.G., Aprille J.R. Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). J Pediatr 1994, 125:758-761.
5. Leu gene. Eur J Pediatr 1996, 155:898-903.
6. Oexle K., Oberle J., Finckh B., Kohlschütter A., Nagy M., Seibel P., et al. Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation. Exp Clin Endocrinol Diabetes 1996, 104:212-217.
7. Verny C., Amati-Bonneau P., Letournel F., Person B., Dib N., Malinge M.C., et al. Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis. Diabetes Metab 2008, 34:620-626.
8. Toyono M., Nakano K., Kiuchi M., Imai K., Suzuki H., Shishikura K., et al. A case of MERRF associated with chronic pancreatitis. Neuromuscul Disord 2001, 11:300-304.
9. Debray F.G., Drouin E., Herzog D., Lortie A., Lambert M., Garel L., et al. Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A 2006, 140:2330-2335.
10. Kato S., Miyabayashi S., Ohi R., Nakagawa H., Abe J., Yamamoto K., et al. Chronic pancreatitis in muscular cytochrome c oxidase deficiency. J Pediatr Gastroenterol Nutr 1990, 11:549-552.
11. Chang Y.J., Chao H.C., Kong M.S., Hsia S.H., Lai M.W., Yan D.C. Acute pancreatitis in children. Acta Paediatr 2011, 100:740-744.
12. Lal A., Lal D.R. Hereditary pancreatitis. Pediatr Surg Int 2010, 26:1193-1199.
13. Kahler S.G., Sherwood W.G., Woolf D., Lawless S.T., Zaritsky A., Bonham J., et al. Pancreatitis in patients with organic acidemias. J Pediatr 1994, 124:239-243.
14. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992, 1:368-371.
15. Mariotti C., Savarese N., Suomalainen A., Rimoldi M., Comi G., Prelle A., et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995, 242:304-312.
16. Maassen J.A. Mitochondrial diabetes: pathophysiology, clinical presentation, and genetic analysis. Am J Med Genet 2002, 115:66-70.
17. Braganza J.M., Lee S.H., McCloy R.F., McMahon M.J. Chronic pancreatitis. Lancet 2011, 377:1184-1197.
18. Tsai K., Wang S.S., Chen T.S., Kong C.W., Chang F.Y., Lee S.D., et al. Oxidative stress: an important phenomenon with pathogenetic significance in the progression of acute pancreatitis. Gut 1998, 42:850-855.
19. Mukherjee R., Criddle D.N., Gukovskaya A., Pandol S., Petersen O.H., Sutton R. Mitochondrial injury in pancreatitis. Cell Calcium 2008, 44:14-23.
20. Rodriguez M.C., MacDonald J.R., Mahoney D.J., Parise G., Beal M.F., Tarnopolsky M.A. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve 2007, 35:235-242.
21. Remes A.M., Liimatta E.V., Winqvist S., Tolonen U., Ranua J.A., Reinikainen K., et al. Ubiquinone and nicotinamide treatment of patients with the 3243A>G mtDNA mutation. Neurology 2002, 59:1275-1277.
22. Abe K., Matsuo Y., Kadekawa J., Inoue S., Yanagihara T. Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): evaluation by noninvasive tissue oximetry. J Neurol Sci 1999, 162:65-68.
23. 10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. Eur Neurol 1997, 37:212-218.
24. Tanno Y., Yoneda M., Tanaka K., Kondo R., Hozumi I., Wakabayashi K., et al. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients. Neurology 1993, 43:1198-1200.
25. Oldfors A., Holme E., Tulinius M., Larsson N.G. Tissue distribution and disease manifestations of the tRNA(Lys) A>G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres. Acta Neuropathol 1995, 90:328-333.
26. Laforet P., Lombes A., Eymard B., Danan C., Chevallay M., Rouche A., et al. Chronic progressive external opthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigation in 43 patients. Neuromuscul Disord 1995, 5:399-413.
27. Goto Y., Koga Y., Horai S., Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci 1990, 100:63-69.