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        "resumen" => "<span class="elsevierStyleSectionTitle">Objetivos</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Definir el s&#237;ndrome de d&#233;ficit de la fosforilaci&#243;n oxidativa neonatal&#44; en funci&#243;n de su incidencia&#44; caracter&#237;sticas perinatales&#44; cl&#237;nicas&#44; bioqu&#237;micas y gen&#233;ticas&#46;</p> <span class="elsevierStyleSectionTitle">Material y m&#233;todos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se revisan los casos de 9 reci&#233;n nacidos catalogados como d&#233;ficit de la fosforilaci&#243;n oxidativa en los &#250;ltimos 8 a&#241;os en nuestro centro&#44; mediante valoraci&#243;n cl&#237;nica&#44; metab&#243;lica&#44; histopatol&#243;gica&#44; enzim&#225;tica y molecular&#44; adem&#225;s de otras evaluaciones&#46; El diagn&#243;stico se estableci&#243; en funci&#243;n del d&#233;ficit enzim&#225;tico de la cadena respiratoria&#44; asociadoa alteraciones del ADNmt en un caso&#44; y en cinco a anomal&#237;as ultraestructurales mitocondriales&#46;</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">La incidencia fue de 1&#47;3&#46;555 y de 1&#47;832 reci&#233;n nacidosingresados en nuestra unidad neonatal&#46; Cuatro ten&#237;an antecedentes familiares positivos&#44; y dos polihidramnios&#46; La mayor&#237;a &#40;8&#47;9&#41; fueron reci&#233;n nacidos a t&#233;rmino&#44; de embarazo y parto normales&#44; con Apgar y somatometr&#237;a tambi&#233;n normales&#46; La cl&#237;nica se inici&#243; en el per&#237;odo neonatal inmediato&#44; como sufrimiento neurol&#243;gico agudo en la mayor&#237;a&#46; La evoluci&#243;n fue grave &#40;5 fallecieron y 4 sobreviven gravemente afectados&#41;&#46; Todos presentaban un fenotipo cl&#237;nico de encefalopat&#237;a grave precoz&#44; asociada a dismorfia&#44; hipoton&#237;a&#44; alteraciones neurosensoriales&#44; atrofia y disgenesia cerebral&#44; electroencefalograma patol&#243;gico&#44; y en 5 de ellos&#44; adem&#225;s&#44; a anomal&#237;as viscerales &#40;principalmente cardiopat&#237;a&#41;&#46; La alteraci&#243;n bioqu&#237;mica m&#225;s frecuente fue un aumento significativo del cociente lactato&#47;piruvato&#46; Cinco pacientes presentaron alteraciones ultraestructurales mitocondriales en la biopsia muscular pero la tinci&#243;n de Cox no result&#243; claramente patol&#243;gica en ning&#250;n caso&#46; Tres ten&#237;an un d&#233;ficit del complejo IV&#44; tres de I-IV&#44; dos del I y uno del I-IIIIV&#46; S&#243;lo en un paciente se detectaron deleciones m&#250;ltiples del ADNmt&#46;</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Se trata de enfermedades frecuentes y graves&#44; de comienzo prenatal con escasa repercusi&#243;n fetal&#44; fenotipo cl&#237;nico homog&#233;neo con afectaci&#243;n predominante del SNC y extraneurol&#243;gica variable&#44; y perfil bioqu&#237;mico inconstante&#46; El diagn&#243;stico exige el estudio enzim&#225;tico de la cadenarespiratoria en todos los casos sospechosos&#46;</p>"
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        "resumen" => "<span class="elsevierStyleSectionTitle">Objetives</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical&#44; biochemical and genetic features&#46;</p> <span class="elsevierStyleSectionTitle">Material and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical&#44; metabolic&#44; pathological and molecular studies&#44; among other evaluations&#46; The diagnosis was established based on ensymatic deficit of the respiratory chain&#44; associated with alterations in the mtDNA in one case&#44; and with mitochondrial ultrastructural anomalies in 5 cases&#46;</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">There was an incidence of 1&#47;3&#46;555 newborns and 1&#47;832 newborns admitted in our Neonatal Unit&#46; In four of them there were familial antecedents and polihidramnios in two&#46; Most of them&#44; 8 out of 9&#44; were born at term after anormal pregnancy and delivery&#44; with normal Apgar score and auxological examination&#46; Symptomatology started immediately at the neonatal period as acute neurological damage in most of them&#46; There was a severe evolution as 5 children died and 4 survived with severe damage&#46; All of them had the classical phenotype of early severe encefalopathy&#44; associated with dismorphicfeatures&#44; hypotom&#237;a&#44; neurosensorial defects&#44; brain dysgenesis and atrophy&#44; anomalies in the EEG and in 5 of therm there were also systemic anomalies&#44; mainly cardiopathy&#46; The most freqyent biochemicalalteration was a significative increment of the quotient lactate&#47;piruvate&#46; Five patients presented ultrastructural alterations of the mitochondria in thr musclebiopsy but Cox stain was not positive in any case&#46;three cases has a deficit of the complex IV&#44; e of the complex I-IV&#44; 2 of the complex I and one the complex I-III-IV&#46;Only one patient had multiple deletions in the mtDNA&#46;</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects&#44; homobeneous clinical phenotipe with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern&#46; Enzymatic studies ar need for making the diagnosis in all suspected cases&#46;</p>"
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Vol. 52. Núm. 3.
Páginas 251-257 (marzo 2000)
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Vol. 52. Núm. 3.
Páginas 251-257 (marzo 2000)
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Defectos de la fosforilación oxidativa de presentación neonatal: revisión casuística
Oxidative Phosphorilation Defects With Neonatal Presentation: Review Of Our Experience
Visitas
9493
V. Rebage Moisésa,*, S. Rite Graciaa, J. López-Pisónb, M. Muñoz Albillosa, E. Aisa Pardoa, J.A. Giménez Másc, J. Arenas Barberod, J. Montoya Vilarroyae, A. Marco Telloa, M.I. Salazar García-Blancof, A. Baldellou Vázquezg
a Unidad Neonatal. Hospital Miguel Servet.Zaragoza
b Sección de Neuropediatría. Hospital Miguel Servet.Zaragoza
c Servicio de Anatomía Patológica. Hospital Miguel Servet.Zaragoza
d Centro de Investigación. Hospital 12 de Octubre. Madrid
e Departamento de Bioquímica y Biología Molecular y Celular. Universidad de Zaragoza
f Laboratorio de Bioquímica. Hospital Miguel Servet. de Zaragoza
g Unidad de Metabolismo. Hospital Miguel Servet. de Zaragoza
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Estadísticas
Objetivos

Definir el síndrome de déficit de la fosforilación oxidativa neonatal, en función de su incidencia, características perinatales, clínicas, bioquímicas y genéticas.

Material y métodos

Se revisan los casos de 9 recién nacidos catalogados como déficit de la fosforilación oxidativa en los últimos 8 años en nuestro centro, mediante valoración clínica, metabólica, histopatológica, enzimática y molecular, además de otras evaluaciones. El diagnóstico se estableció en función del déficit enzimático de la cadena respiratoria, asociadoa alteraciones del ADNmt en un caso, y en cinco a anomalías ultraestructurales mitocondriales.

Resultados

La incidencia fue de 1/3.555 y de 1/832 recién nacidosingresados en nuestra unidad neonatal. Cuatro tenían antecedentes familiares positivos, y dos polihidramnios. La mayoría (8/9) fueron recién nacidos a término, de embarazo y parto normales, con Apgar y somatometría también normales. La clínica se inició en el período neonatal inmediato, como sufrimiento neurológico agudo en la mayoría. La evolución fue grave (5 fallecieron y 4 sobreviven gravemente afectados). Todos presentaban un fenotipo clínico de encefalopatía grave precoz, asociada a dismorfia, hipotonía, alteraciones neurosensoriales, atrofia y disgenesia cerebral, electroencefalograma patológico, y en 5 de ellos, además, a anomalías viscerales (principalmente cardiopatía). La alteración bioquímica más frecuente fue un aumento significativo del cociente lactato/piruvato. Cinco pacientes presentaron alteraciones ultraestructurales mitocondriales en la biopsia muscular pero la tinción de Cox no resultó claramente patológica en ningún caso. Tres tenían un déficit del complejo IV, tres de I-IV, dos del I y uno del I-IIIIV. Sólo en un paciente se detectaron deleciones múltiples del ADNmt.

Conclusiones

Se trata de enfermedades frecuentes y graves, de comienzo prenatal con escasa repercusión fetal, fenotipo clínico homogéneo con afectación predominante del SNC y extraneurológica variable, y perfil bioquímico inconstante. El diagnóstico exige el estudio enzimático de la cadenarespiratoria en todos los casos sospechosos.

Palabras clave:
Mitocondria
Recién nacido
Defectos de la fosforilación oxidativa
Encefalopatía mitocondrial
Objetives

To define the oxidative phosporilation deficit syndrome in the neonatal in terms of incidence and clinical, biochemical and genetic features.

Material and methods

We report 9 newborns diagnosed as oxidatic phosporilation deficit during the last 8 years in our hospital by means of clinical, metabolic, pathological and molecular studies, among other evaluations. The diagnosis was established based on ensymatic deficit of the respiratory chain, associated with alterations in the mtDNA in one case, and with mitochondrial ultrastructural anomalies in 5 cases.

Results

There was an incidence of 1/3.555 newborns and 1/832 newborns admitted in our Neonatal Unit. In four of them there were familial antecedents and polihidramnios in two. Most of them, 8 out of 9, were born at term after anormal pregnancy and delivery, with normal Apgar score and auxological examination. Symptomatology started immediately at the neonatal period as acute neurological damage in most of them. There was a severe evolution as 5 children died and 4 survived with severe damage. All of them had the classical phenotype of early severe encefalopathy, associated with dismorphicfeatures, hypotomía, neurosensorial defects, brain dysgenesis and atrophy, anomalies in the EEG and in 5 of therm there were also systemic anomalies, mainly cardiopathy. The most freqyent biochemicalalteration was a significative increment of the quotient lactate/piruvate. Five patients presented ultrastructural alterations of the mitochondria in thr musclebiopsy but Cox stain was not positive in any case.three cases has a deficit of the complex IV, e of the complex I-IV, 2 of the complex I and one the complex I-III-IV.Only one patient had multiple deletions in the mtDNA.

Conclusions

Oxidatic phosporilation deficit are frequent and severe diseases of prenatal onset with limited fetal effects, homobeneous clinical phenotipe with frequent damage of the central nervous system and variable extraneurological alteration and inconsistent biochemical pattern. Enzymatic studies ar need for making the diagnosis in all suspected cases.

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