ABSTRACT
El síndrome de fenilcetonuria materna (SFM) aparece en hijos de madres afectadas por hiperfenilalaninemia grave o moderada con concentraciones plasmáticas elevadas de fenilalanina(Phe) durante los meses previos y/o la gestación. Cursa con malformaciones similares al síndrome alcoholico fetal y es especialmente frecuente la aparición de microcefalia y retardomental y del desarrollo. La planificación y los controles estrictos de Phe durante el embarazo son fundamentales para evitar la aparición de SFM. Presentamos un protocolo de seguimiento y nuestra experiencia en tres embarazos que han finalizado con éxito
Maternal phenylketonuria syndrome(MPS)occurs in children whose mothers have severe or moderate hyperphenylalaninemia and present high plasma phenylalanine levels during the months prior to and/or throughout pregnancy. MPS presents with malformations similar to those associated with fetal alcohol syndrome, the most common of which are microcephaly, congenital heart defects and mental and developmental retardation. Planning and strict control of phenylalanine levels during pregnancy are essential for the prevention of the development of MPS. We present a follow-up protocol and our experience with three successful pregnancies in women with phenylketonuria
Subject(s)
Female , Pregnancy , Humans , Phenylketonuria, Maternal/therapy , Phenylketonurias/complications , Heart Defects, Congenital/etiology , Microcephaly/etiology , Follow-Up Studies , Phenylalanine/analysis , Clinical ProtocolsABSTRACT
Se presenta el caso de un varón joven con osteoporosis asociada a fenilcetonuria.El diagnóstico y tratamiento precoz con el ajuste de la ingesta diaria de fenilalaninade la dieta ha mejorado la supervivencia de estos pacientes. Por ello, ladescripción de este caso clínico tiene como objetivo resaltar una de las principalescomplicaciones de esta entidad durante la juventud o en la edad adulta
We report a case of a young male with osteoporosis associated with phenylketonuria.The early diagnosis and treatment with phenylalanine restriction inthe diet has increased the survival of patients with this disease. The objectiveof this report is to increase the awareness of one of the main complications duringyouth or adult life
Subject(s)
Male , Adult , Humans , Phenylketonurias/complications , Osteoporosis/etiology , Phenylalanine/adverse effects , Phenylketonurias/diet therapyABSTRACT
Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity. Treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC), an inhibitor of 4-hydroxyphenylpyruvate dioxygenase, has successfully been applied for the last few years. Our aim was to evaluate the clinical and biochemical response to treatment with NTBC of a 18-year-old patient with a chronic form of tyrosinemia type I, whose main clinical feature was vitamin D-resistant rickets leading to severe osteoporosis with multiple bone fractures and skeletal deformities. After treatment, toxic metabolites became undetectable and porphobilinogen synthase activity returned to normal. Renal function improved, blood hemoglobin returned to normal and alfa-fetoprotein decreased. The patient's general condition greatly improved. However, the alfa-fetoprotein concentration slowly increased during the second year of NTBC treatment and hepatocellular carcinoma developed. NTBC treatment should be considered even in advanced cases of tyrosinemia type I, although only as a palliative therapy.
Subject(s)
4-Hydroxyphenylpyruvate Dioxygenase/antagonists & inhibitors , Carcinoma, Hepatocellular/etiology , Cyclohexanones/therapeutic use , Enzyme Inhibitors/therapeutic use , Liver Neoplasms/etiology , Nitrobenzoates/therapeutic use , Tyrosinemias/drug therapy , Adolescent , Humans , Male , Palliative Care , Tyrosinemias/complicationsABSTRACT
La tirosinemia tipo I es una enfermedad hereditaria autosómica recesiva causada por la actividad deficiente de la enzima fumarilacetoacetasa. El tratamiento con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexadiona (NTBC), un inhibidor del 4-hidroxifenilpiruvato dioxigenasa, ha sido usado con éxito en los últimos años. Se ha evaluado la respuesta clínica y bioquímica al tratamiento con NTBC en un paciente de 18 años con una forma crónica de tirosinemia tipo I, con hallazgos clínicos de raquitismo por vitamina D resistente junto con osteoporosis y múltiples fracturas y deformidades esqueléticas. Con el tratamiento los metabolitos tóxicos llegaron a ser indetectables con actividad enzimática de la porfobilinógeno sintetasa normalizada. La función renal mejoró, la hemoglobina se normalizó y la concentración de alfafetoproteína disminuyó. Su estado general mejoró de manera espectacular. Sin embargo, durante el segundo año de tratamiento, la concentración de alfafetoproteína aumentó considerablemente y el paciente desarrolló un carcinoma hepatocelular. El tratamiento con NTBC debe considerarse, incluso en casos de tirosinemia tipo I avanzados, como terapia paliativa (AU)
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Subject(s)
Adolescent , Male , Humans , 4-Hydroxyphenylpyruvate Dioxygenase , Palliative Care , Nitrobenzoates , Tyrosinemias , Cyclohexanones , Carcinoma, Hepatocellular , Enzyme Inhibitors , Liver NeoplasmsSubject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosome Aberrations/immunology , Chromosome Disorders , Chromosomes, Human, Pair 17/ultrastructure , Immunologic Deficiency Syndromes/genetics , Intellectual Disability/etiology , Respiratory Tract Infections/etiology , Ring Chromosomes , Child , Chromosome Aberrations/genetics , Face/abnormalities , Female , Fetal Growth Retardation/etiology , Humans , Immunologic Deficiency Syndromes/complications , Microcephaly/etiology , Pregnancy , RecurrenceSubject(s)
Allopurinol/therapeutic use , Leishmaniasis, Visceral/drug therapy , Meglumine/therapeutic use , Organometallic Compounds/therapeutic use , Sorbitol/analogs & derivatives , Humans , Immunoglobulin A/immunology , Immunoglobulin G/immunology , Immunoglobulin M/immunology , Immunologic Tests , Infant , Leishmaniasis, Visceral/immunology , Male , Meglumine AntimoniateABSTRACT
Revision on the pulmonary alterations in the course of collagenosis. The respiratory tract participation in connective tissue disorders and the causes why they can appear are justified. A synthesis of the clinical, radiologic and functional alterations, with differential facts in each one of the main collagenosis, contrasting bibliographic facts with personal casuist is offered.
Subject(s)
Collagen Diseases/pathology , Adult , Arthritis, Rheumatoid , Child , Dermatomyositis/pathology , Granulomatosis with Polyangiitis/pathology , Humans , Lung/pathology , Lupus Erythematosus, Systemic/pathology , Polyarteritis Nodosa/pathology , Pulmonary Fibrosis/etiology , Rheumatic Nodule/pathologyABSTRACT
A study was made of 72 cases of leukemia in children (the majority of which were acute lymphoblastic in type or with undiferenciated cells), in order to examine the type and frequency of pulmonary complications in leukemia, once complications of infectious etiology had been rejected. Pulmonary complications were found in 23 cases. Most often recurring image was the disseminated reticulonodular type. Nodular images and diverse pulmonary infiltrates were also discovered, these were often peribronchial and bilateral in almost every case. No significant relationship was found regarding the age of children, type of leukemia or length of time illness took to develop. Finally, present increase in the frequency of pulmonary complications in leukemia is commented and possible etiologic part antiblastic therapy might play on certain occasions is speculated.