ABSTRACT
Hyperglycerolemia is a very rare genetic disorder caused by glycerol kinase deficiency. Although usually is presented unexpectedly in routine checks, there are severe forms, especially in children. In general, glycerol and glycerol kinase activity analyses are not included in routine laboratory determination. Glycerol presents positive interferences with some biochemical analytic techniques, e.g. in serum triglycerides and plasma ethylene glycol levels assays. Here, we report a Spanish patient with a pseudo-hypertriglyceridaemia, a falsely elevated triglycerides concentration that was not corrected with lipid-lowering therapy for 3 years (AU)
La hiperglicerolemia es una patología debida a la deficiencia de la enzima glicerol cinasa que cursa con concentraciones elevadas de glicerol. Hay diferentes manifestaciones de la enfermedad, especialmente en niños. La dificultad diagnóstica se debe a que la actividad de la enzima glicerol cinasa no está disponible en la mayoría de laboratorios públicos. Además, la cuantificación de triglicéridos en suero presenta una interferencia analítica con la determinación de glicerol ya que la mayoría de los métodos no realizan un blanco de glicerol, y este se cuantifica junto con los triglicéridos. Presentamos un caso de un niño con hiperglicerolemia de 3 años de evolución, enmascarada por una falsa elevación de triglicéridos en sangre debido a una interferencia analítica
Subject(s)
Humans , Male , Young Adult , Hypertriglyceridemia/diagnosis , Glycerol Kinase , Diagnosis, Differential , Fibric Acids/therapeutic useABSTRACT
Hyperglycerolemia is a very rare genetic disorder caused by glycerol kinase deficiency. Although usually is presented unexpectedly in routine checks, there are severe forms, especially in children. In general, glycerol and glycerol kinase activity analyses are not included in routine laboratory determination. Glycerol presents positive interferences with some biochemical analytic techniques, e.g. in serum triglycerides and plasma ethylene glycol levels assays. Here, we report a Spanish patient with a pseudo-hypertriglyceridaemia, a falsely elevated triglycerides concentration that was not corrected with lipid-lowering therapy for 3 years.
Subject(s)
Carbohydrate Metabolism, Inborn Errors/diagnosis , Glycerol Kinase/deficiency , Glycerol/blood , Hypertriglyceridemia/diagnosis , Carbohydrate Metabolism, Inborn Errors/physiopathology , Ethylene Glycol/blood , Humans , Hypertriglyceridemia/physiopathology , Hypoadrenocorticism, Familial , Hypolipidemic Agents/therapeutic use , Male , Triglycerides/blood , Young AdultABSTRACT
El ganglioneuroblastoma es un tumor neuroblástico poco frecuente, que se produce casi exclusivamente en pacientes pediátricos. Más del 90% de los pacientes presentan niveles altos de catecolaminas y de sus metabolitos en orina. Presentamos el caso de un paciente de 4 años de edad, diagnosticado de un ganglioneuroblastoma, en el que la determinación de catecolaminas urinarias fue una importante herramienta para el diagnóstico debido a su sensibilidad, especificidad, rapidez y bajo coste(AU)
Ganglioneuroblastoma is a rare variety of neuroblastic tumor that occurs almost exclusively in pediatric patients. More than 90%of the patients present high levels of catecholamines and their metabolites in urine. We present the case of a four year-old patient who was diagnosed to have ganglioneuroblastoma, in which the determination of urinary catecholamines was an important tool for diagnosis due to their sensitivity, specificity, promptness and low cost(AU)
Subject(s)
Humans , Male , Child , Ganglioneuroblastoma/diagnosis , Catecholamines , Catecholamines/administration & dosage , Sensitivity and Specificity , Biopsy , Ganglioneuroblastoma/complications , Ganglioneuroblastoma/economics , Ganglioneuroblastoma , Neural Crest/pathology , Neural Crest , Hyperemia/complications , Hyperemia/pathologyABSTRACT
Las últimas recomendaciones del National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol In Adults (ATP III) consideran que un aumento de la concentración de triglicéridos en suero es un factor de riesgo independiente para la enfermedad coronaria. Los métodos de cuantificación no utilizan un «blanco de glicerol» y cuantifican este alcohol junto con la concentración de triglicéridos, por lo que una deficiencia de glicerol cinasa o una disminución de la capacidad de oxidación de glicerol pueden causar falsas elevaciones de triglicéridos. Se presenta el caso de un niño con falsa hipertrigliceridemia debido a glicerolemia (AU)
Recent recommendations from the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults, considered that an increase in serum triglyceride levels is an independent risk factor for coronary heart disease. Most enzymatic methods used in routine laboratories do not involve a glycerol blank and determine both glycerol and triglycerides. Patients with glycerol-kinase deficiency or decreased ability to oxidize glycerol may be diagnosed with a pseudo-hypertriglyceridemia. We report a case of a child with a pseudo hypertriglyceridemia (falsely elevated triglycerides) due to a hyperglycerolemia (AU)
Subject(s)
Humans , Male , Child , Hypertriglyceridemia/etiology , Dyslipidemias/etiology , Glycerol Kinase/deficiency , Coronary Disease , Glycerol/analysis , Lipoproteins/analysis , Diagnosis, DifferentialABSTRACT
Recent recommendations from the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults, considered that an increase in serum triglyceride levels is an independent risk factor for coronary heart disease. Most enzymatic methods used in routine laboratories do not involve a glycerol blank and determine both glycerol and triglycerides. Patients with glycerol-kinase deficiency or decreased ability to oxidize glycerol may be diagnosed with a pseudo-hypertriglyceridemia. We report a case of a child with a pseudo hypertriglyceridemia (falsely elevated triglycerides) due to a hyperglycerolemia.
Subject(s)
Glycerol/blood , Hypertriglyceridemia/blood , Hypertriglyceridemia/diagnosis , Child , Diagnosis, Differential , Humans , MaleABSTRACT
OBJECTIVE: The aim of this study was to evaluate both the importance of the screening strategy and the familial aggregation characteristics of families with hypercholesterolemic children. PATIENTS AND METHODS: Ninety-one families (369 subjects) with one hypercholesterolemic child were studied. In addition to clinical and general biochemical evaluation, lipids including apo A-I and B-100 were examined. LDL was quantified under ultracentrifugation. RESULTS: Among the 91 children studied, 10 (10.99%) suffered heterozygous hypercholesterolemia, while 81 (89.01%) suffered polygenic hypercholesterolemia. Following a diet, polygenic children exhibited normal lipid parameters. In heterozygous children a decrease of 19% for total cholesterol, 19.9% for LDL-cholesterol and 16.3% for apo B were observed. When starting the study, 77.5% of the family members thought that they had normal serum lipid values. At the end of the study it was confirmed that only 28% were really normolipemic, indicating that 49.4% of the individual did not know that they were suffering dyslipemia. The study also showed that fathers exhibited the highest incidence of hypercholesterolemia (80.2%) followed by brothers (65.6%) and mothers (61.5%). Therefore, 69.4% of the individuals studied exhibited dyslipemia. CONCLUSIONS: The screening strategy allows one to diagnose a high percentage (almost 50%) of individuals suffering hypercholesterolemia in families with a child previously diagnosed of this pathology. Moreover, in these families there is a high degree of familiar aggregation of dyslipemia.
Subject(s)
Hypercholesterolemia/genetics , Adolescent , Child , Child, Preschool , Female , Humans , Hypercholesterolemia/blood , Lipids/blood , MaleABSTRACT
The clinical, biochemical and pathological studies of the first case of Tangier's disease that, to our knowledge, has been detected in Spain are reported. The patient had all the characteristic features of the disease: hypercholesterolemia with very pronounced reduction of plasmatic high density lipoproteins, splenomegaly, orange yellow tonsils and peripheral neuropathy. In addition, he had pneumonia and pancytopenia. Neurological examination and computed tomography suggested cerebral involvement, not previously reported in this condition. Biopsies demonstrated lipid accumulation in the reticuloendothelial cells of diverse localizations and in Schwann's cells.
