ABSTRACT
La Tirosinemia tipo I es una enfermedad potencialmente letal si no se diagnostica y trata adecuadamente. Los avances diagnóstico terapéuticos en los últimos años han mejorado ostensiblemente el pronóstico de estos pacientes. Por ello es importante que el pediatra disponga de una guía de práctica clínica con recomendaciones para el diagnóstico, y manejo terapéutico de esta enfermedad que contribuya a una adecuada actuación (AU)
Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention (AU)
Subject(s)
Humans , Tyrosinemias/complications , Liver Failure, Acute/etiology , 4-Hydroxyphenylpyruvate Dioxygenase/therapeutic use , Tyrosinemias/diagnosis , Carcinoma, Hepatocellular/diagnosis , Tyrosinemias/drug therapy , Liver TransplantationABSTRACT
Tyrosinemia type I is a potentially lethal disease if not diagnosed and treated properly. Diagnostic and therapeutic advances in recent years have significantly improved the prognosis for these patients. It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention.
Subject(s)
Child , Humans , Practice Guidelines as Topic , Tyrosinemias/diagnosis , Tyrosinemias/therapyABSTRACT
INTRODUCTION: The disease of Von Hippel Lindau (VHL) is hereditary and causes a predisposition to the development of tumours. Organs such as the cerebellum, the pancreas, the kidney, the suprarenal glands and the retina are more usually affected by this disease. CLINICAL CASE: We present the case of a 5-year-old patient who suffers from asiymptomatic high blood pressure. In the family antecedents, it is relevant the case of the father, with pheocromocytoma bilateral, which led us to carry out a genetic study of his two sons. Our patient, the younger; presented a mutation of the VHL gene in the short arm of the chromosome 3. In one of the periodic controls, it could be detected high blood pressure of 160/100 mm. Hg, clinically asymptomatic. The other child did not present a genetic mutation and has no disease. The presence of high catecholamines, the detection of a 3 cm left suprarenal mass through the ecography, the TAC that did not show a right suprarenal pathology and the MBIG scintigraphy confirmed the diagnostic of pheocromocytoma. The RNM showed another 0.8-cm mass which confirmed a pheocromocytoma bilateral. We started the treatment against high blood pressure with fenoxibenzamine and diltiazem, and we controlled this problem. We also prepared the pre-and-post operation anesthetic strategy, which is so important for the surgical success. The operation started by a laparoscopic, we made left adrenalectomy and we had to reconvert to laparotomy to make partial right adrenalectomy. Six months after the operation, the patient is free from symptomatology and follows a treatment with glucocorticoides with smaller and smaller doses. COMMENTS: The case is exceptional because it embodies the following characteristics: early diagnostic age, family affectation and discovery of asymptomatic high blood pressure. It needed an appropriate preanesthetic and anesthetic preparation, which gave way to an operation without complications. The postoperation was also stable and presented no complications.
Subject(s)
Adrenal Gland Neoplasms/surgery , Neoplasms, Multiple Primary/surgery , Pheochromocytoma/surgery , von Hippel-Lindau Disease/complications , Adrenal Gland Neoplasms/complications , Child, Preschool , Humans , Male , Neoplasms, Multiple Primary/complications , Pheochromocytoma/complicationsSubject(s)
Cystine/metabolism , Cystinosis/metabolism , Glycoproteins , Membrane Proteins/metabolism , Amino Acid Transport Systems, Neutral , Cystine/genetics , Cystinosis/diagnosis , Cystinosis/genetics , Cystinosis/therapy , Diagnosis, Differential , Humans , Membrane Proteins/genetics , Membrane Transport Proteins , Molecular BiologyABSTRACT
Reportamos un caso de parotiditis urliana en una embarazada de 32 semanas de gestación, desencadenándose una semana después el trabajo de Parto de su embarazo gemelar, confirmándose posteriormente infección transplacentaria en uno de los gemelos, presentando no obstante ambos similar sintomatología: Hemólisis con marcada disminución del hematocrito (16 por ciento a los 10 días de vida el varón, primer gemelar y 18 por ciento a los 11 días la mujer, 2do. gemelar), Hiperbilirrubinemia de 22 y 26 mg por ciento máxima respectivamente y hematuria. Posterior regresión de la sintomatología con buena recuperación y evolución normal hasta el año de vida.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Anemia, Hemolytic/diagnosis , Diseases in Twins , Infectious Disease Transmission, Vertical , Mumps Vaccine , Mumps virus/immunology , Parotitis/complications , Parotitis/diagnosis , Parotitis/therapy , Coombs Test , Erythrocyte Transfusion , Immunoglobulin M , Jaundice, NeonatalABSTRACT
Reportamos un caso de parotiditis urliana en una embarazada de 32 semanas de gestación, desencadenándose una semana después el trabajo de Parto de su embarazo gemelar, confirmándose posteriormente infección transplacentaria en uno de los gemelos, presentando no obstante ambos similar sintomatología: Hemólisis con marcada disminución del hematocrito (16 por ciento a los 10 días de vida el varón, primer gemelar y 18 por ciento a los 11 días la mujer, 2do. gemelar), Hiperbilirrubinemia de 22 y 26 mg por ciento máxima respectivamente y hematuria. Posterior regresión de la sintomatología con buena recuperación y evolución normal hasta el año de vida. (AU)
Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Mumps virus/immunology , Mumps Vaccine , Anemia, Hemolytic/diagnosis , Diseases in Twins , Infectious Disease Transmission, Vertical , Parotitis/diagnosis , Parotitis/therapy , Parotitis/complications , Erythrocyte Transfusion , Jaundice, Neonatal , Immunoglobulin M/administration & dosage , Coombs TestABSTRACT
Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). The mother of the ALD patient does not have the Y174S mutation in her leukocyte DNA, indicating that Y174S arose de novo in the patient. Y174S is the first reported de novo mutation in the ALD gene.
