RESUMO
BACKGROUND: Genetic amniocentesis is performed in México 25 years ago but only few works have been published. OBJECTIVE: To analyze clinical and cytogenetic findings in consecutive patients submitted to genetic amniocentesis. MATERIAL AND METHOD: An analysis was made of the clinical features, amniocentesis results and pregnancy outcome in 1500 consecutive cases of genetic amniocentesis. RESULTS: Sixty-eight fetuses with chromosomopathy (4.5%) were detected and two, with an inborn error of metabolism. The most frequent abnormalities were trisomy 21 (32 cases), trisomy 18 (10 cases), trisomy 13(6 cases), 45,X (6 cases), 47,XXY (4 cases). Pregnancy outcome is known in 474 patients (32%). There were five fetal losses (1%). Of the 68 cases with chromosomopathy, the outcome is known in 45, of which, 29 (64%) decided to have an abortion while 16 (35%) continued the pregnancy, six had a spontaneous abortion or perinatal death and ten had an alive new born. Among fetuses with normal or balanced karyotype and normal ultrasound, 11 out of 419 (2.6%) had congenital anomalies. Two of them had a condition known to be related with epigenetic regulation, (Russell Silver and Angelman syndrome). CONCLUSIONS: Amniocentesis is a reliable and low risk method. Cytogenetic findings in this series are similar to those reported in the literature. Most patients with fetal disease decided to have an abortion. The finding of two patients with a condition related with abnormal epigenetic regulation suggests that the magnitude of this risk remains to be defined.
Assuntos
Amniocentese , Transtornos Cromossômicos/diagnóstico , Aborto Eugênico , Adulto , Amniocentese/efeitos adversos , Amniocentese/estatística & dados numéricos , Transtornos Cromossômicos/embriologia , Transtornos Cromossômicos/genética , Feminino , Morte Fetal/epidemiologia , Idade Gestacional , Humanos , Recém-Nascido , Cariotipagem , México , Pessoa de Meia-Idade , Mucopolissacaridose VII/diagnóstico , Mucopolissacaridose VII/embriologia , Mucopolissacaridose VII/genética , Doenças de Niemann-Pick/diagnóstico , Doenças de Niemann-Pick/embriologia , Doenças de Niemann-Pick/genética , Trabalho de Parto Prematuro , Gravidez , Resultado da Gravidez , Gravidez Múltipla , Estudos Retrospectivos , Risco , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
OBJECTIVE: To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. STUDY DESIGN: Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype. RESULTS: Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5 (8%). In these five patients, the onset of neurologic difficulties occurred between 2 and 7 years of age and was associated with peripheral neuropathy, retinal abnormalities, and the Q292K mutation. No patients with at least one copy of DeltaR608 had neurologic involvement. CONCLUSIONS: The majority of patients with NPD-B have no neurologic abnormalities. In patients with neurologic abnormalities, the findings can be minor and static or severe and progressive. The latter phenotype follows a course distinct from that of classic NPD-A and is associated with the Q292K mutation and characteristic retinal findings. Thus, similar to other lysosomal storage disorders, there is a broad spectrum of neurologic abnormalities in acid sphingomyelinase deficiency, which makes the current classification scheme inaccurate.
Assuntos
Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/genética , Doenças de Niemann-Pick/complicações , Doenças de Niemann-Pick/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/etiologia , Fenótipo , PrevalênciaRESUMO
OBJECTIVE: To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype. STUDY DESIGN: The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained. RESULTS: Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the Delta R608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations. CONCLUSIONS: Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.
Assuntos
HDL-Colesterol/sangue , LDL-Colesterol/sangue , Hipertrigliceridemia/sangue , Doenças de Niemann-Pick/sangue , Cálcio/análise , Criança , Pré-Escolar , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico por imagem , Vasos Coronários/química , Estudos Transversais , Feminino , Genótipo , Humanos , Lactente , Masculino , Mutação , Doenças de Niemann-Pick/genética , FenótipoRESUMO
Niemann-Pick disease is a rare inherited disorder characterized by deposition of sphingomyelin in various organs. We describe the high-resolution computed tomography findings in 2 adult sisters with Niemann-Pick disease and extensive pulmonary involvement. The main abnormalities consisted of thickening of the interlobular septa and patchy areas of ground-glass attenuation.
Assuntos
Pneumopatias/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Doenças de Niemann-Pick/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Feminino , Humanos , Pneumopatias/complicações , Doenças de Niemann-Pick/complicações , Doenças de Niemann-Pick/genéticaRESUMO
OBJECTIVES: To compare growth of children with type B Niemann-Pick disease (NPD) with disease variables including genotype, organomegaly, bone age, and serum insulin-like growth factor-1 (IGF-1). STUDY DESIGN: A cross-sectional analysis of growth was performed in 23 children and adolescents with enzymatically and genotypically confirmed NPD. Liver and spleen volumes were measured by quantitative computed tomography and skeletal age by a wrist radiograph. RESULTS: The mean Z scores for height and weight were -1.24 (29th percentile) and -0.75 (34th percentile). The mean liver and spleen volumes were 2.06 and 13.46 times normal for weight, respectively. Skeletal age was delayed by an average of 2.5 years, and serum IGF-1 level was at or below the 2nd percentile in 8 of 12 patients. Short stature and low weight were significantly correlated with large organ volumes, delayed bone age, and low IGF-1 levels. In contrast to patients with other mutations, individuals homozygous for the DeltaR608 mutation had normal height and weight, markedly less hepatosplenomegaly and bone age delay, and normal IGF-1 levels. CONCLUSIONS: Abnormal linear growth and delayed skeletal maturation are common in children and adolescents with type B NPD; however, homozygosity for DeltaR608 is associated with normal growth.