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Titolo:
ACUTE-PANCREATITIS IN AN INFANT WITH LACTIC-ACIDOSIS AND A MUTATION AT NUCLEOTIDE-3243 IN THE MITOCHONDRIAL-DNA TRNA(LEU(UUR)) GENE
Autore:
KISHNANI PS; VANHOVE JLK; SHOFFNER JS; KAUFMAN A; BOSSEN EH; KAHLER SG;
Indirizzi:
DUKE UNIV,MED CTR,DEPT PEDIAT,DIV MED GENET,BOX 3528 DURHAM NC 27710 EMORY UNIV,SCH MED,DEPT NEUROL ATLANTA GA 30322 DUKE UNIV,MED CTR,DEPT PATHOL DURHAM NC 27710
Titolo Testata:
European journal of pediatrics
fascicolo: 10, volume: 155, anno: 1996,
pagine: 898 - 903
SICI:
0340-6199(1996)155:10<898:AIAIWL>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
CLINICAL-FEATURES; DIABETES-MELLITUS; EPISODES MELAS; POINT MUTATION; DEFICIENCY; CHILDHOOD; ENCEPHALOMYOPATHIES; ENCEPHALOPATHY; PREVALENCE; DIAGNOSIS;
Keywords:
MELAS; INFANTILE PRESENTATION; LACTIC ACIDOSIS; PANCREATITIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
41
Recensione:
Indirizzi per estratti:
Citazione:
P.S. Kishnani et al., "ACUTE-PANCREATITIS IN AN INFANT WITH LACTIC-ACIDOSIS AND A MUTATION AT NUCLEOTIDE-3243 IN THE MITOCHONDRIAL-DNA TRNA(LEU(UUR)) GENE", European journal of pediatrics, 155(10), 1996, pp. 898-903

Abstract

The A to G point mutation at position 3243 of the mitochondrial DNA tRNA(Leu(UUR)) gene is commonly found in patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). A male patient was referred at 7 months with failure to thrive, developmental delay, microcephaly and hypotonia since age 2 months. He had developed lactic acidosis and increasingly frequent seizures since age 5 months. The patient was admitted at 15 months with pleural and pericardial effusions, which resolved. Three weeks later he developed evidence of pancreatitis with hyperglycemia, sudden profound increase in lactic acidosis and increased serum lipase, He died unexpectedly the next day of cardiorespiratory collapse following an acute gastro-intestinal hemorrhage. Analysis of mitochondrial DNA (mtDNA) in muscle showed heteroplasmy for the mutation MTTL1MELAS3243G (> 95%). Infants with this mutation commonly present with failure to thrive, significant developmental delay, and hypotonia, while stroke-like episodes occur later in survivors. They usually have lactic acidosis and a high percentage of mutant mtDNA in muscle. Conclusion Respiratory chain disorders including the mtDNA MTTL1MELAS3243G mutation should be suspected in infants with this systemic and neurologic presentation. Pancreatic dysfunction, both acute and chronic, needs to be added to the list of symptoms of disorders of the respiratory chain.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 06:24:28