La enfermedad de Gaucher se debe a mutaciones en el gen que codifica la glucocerebrosidasa. Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The DH mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the DH mutation, who was diagnosed with Gaucher's disease at the age of 45 days.
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Enfermedad de Niemann-Pick tipo B. Niemann- Pick disease type B. Study of three cases and literature revision. Recibido: febrero, Aceptado: noviembre, A la fecha no existen biomarcadores de utilidad para valorar la actividad de la enfermedad. Methods: Three patients, two of them male, age between two and eleven years, with type B Niemann-Pick disease were evaluated periodically by physic exam and laboratory: hematologic indices, lipid profile, hepatic function tests; Radiologic studies: chest X-ray, abdominal ultrasound, cranial computed tomography, echocardiogram.
Histologic exams: hepatic biopsy, bone marrow aspirate. We also obtained information on intercurrent pathologies. The clinical manifestations were: hepatosplenomegaly in three; neurologic involvement in two; bone involvement in one; pulmonary involvement in two; liver involvement in three; affected hematological indices in three; lipid abnormalities in three; cardiac involvement in one; ocular manifestations in one; growth retardation in three. In none of the families were detected consanguinity nor endogamy.
Conclusions: This study shows the multisystemic involvement and the clinic variability in the type B Niemann-Pick disease, which is characterized essentially by hepatosplenomegaly with the possibility of development of liver dysfunction. Patients have a progressive hypersplenism. They present an atherogenic lipid profile. A gradual pulmonary affection, and other systemic manifestations are observed. The diagnosis confirmation, requires the determination of acid sphyngomyelinase. To date, there are no useful biomarkers to evaluate the disease activity.
Enzyme replacement therapy is still on research. Key words: Niemann-Pick disease, cherry red maculae, hepatosplenomegaly, liver dysfunction. Se caracteriza por hepatoesplenomegalia, 2,4 a veces dislipidemias y trombocitopenia secundaria a hiperesplenismo. Cuadro 2. Diferentes mutaciones del gen de la esfingomielina fosfodiesterasa-1 SMPD1 , localizado en el cromosoma 11p Los estudios que comparan la actividad de la esfingomielinasa, revelan mayor actividad de esta enzima en pacientes con enfermedad de Niemann Pick tipo B, a diferencia de la actividad indetectable que mostraban los pacientes con enfermedad de Niemann Pick tipo A.
La enfermedad de Niemann Pick tipo B se caracteriza por hepatoesplenomegalia durante la infancia o adolescencia; algunos casos tienen antecedente de hepatitis neonatal. Debido a la trombocitopenia, los pacientes cursan con episodios de sangrado, petequias y equimosis.
Otros autores informan que su utilidad es menor. Natural history of Type A Niemann Pick disease: possible endpoints for therapeutic trials. Neurology ; Pediatrics ; Lung Disease in Niemann-Pick disease. Pediatric Pulmonology ; Heterogeneity of liver disorder in type B Niemann-Pick disease. Hum Pathol ; J Pediatr ; Growth restriction in children with type B Niemann Pick disease. Ophthalmology ; Acid sphingomyelinase Deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
Niemann-Pick Disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation QK. Neuropediatrics ; Schuchman E. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
J Inherit Metab Dis ; Niemann A. Ein unbekanntes Krankheitsbild. Pick L. Ergebenisse der Inneren Medizin und Kingderheilkunde ; Am J Genet ; Graber D. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann Pick disease by evaluation of the effective residual lysosomal sphyngomyelinase activity in intact cells. J Neurochem ; A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
Imaging manifestations of Niemann-Pick Disease type B. AJR ; Radiology ; Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. Eur J Pediatr ; Enfermedad de Niemann Pick. Mol Med ; Pediatr Blood Cancer ; Vanier M. Prenat Diagn ; Acta Pediat Mex ; Servicios Personalizados Revista. Similares en SciELO. Correspondencia Dr. Insurgentes C, Col. Insurgentes Cuicuilco, Del.
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2012, Número 1
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