ABSTRACT
Dismorfología se refiere al estudio de los pacientes con malformaciones congénitas. En este concepto se incluyen también pacientes con otras alteraciones morfológicas que lo hacen aparecer diferente. En este artículo revisamos los diferentes tipos de alteraciones que el médico debe reconocer, tanto cualitativas, como malformaciones, deformaciones, disrupciones y displasias, como cuantitativas enfatizando la importancia de diferenciar si éstas constituyen variación normal, racial o familiar, o son indicadores de una afección genética. Delinearemos la forma de estudiar al paciente y los problemas más frecuentes que dificultan establecer el diagnóstico. Si la malformación es aislada, de causa poligénica/multifactorial, es habitualmente el médico tratante quien establece el diagnóstico y otorga asesoramiento genético. En caso de anomalías múltiples, en que hay que determinar su etiología específica, lo recomendable es referir el paciente a un genetista clínico. Sólo así se podrá dar asesoramiento genético responsable ayudando al paciente a lograr su máximo potencial genético y a la familia a tener hijos normales.
Dysmorphology refers to the study of patients with congenital malformations. However, dysmorphology not only includes the study of birth defects but also the study of patients with other anomalies making him/her look different. In this article we review qualitative abnormalities, such us malformations, deformations, disruptions and displasias as well as quantitative variations which may represent normal, racial or familial, variation or be part of a genetic disorder. We review the study of the patient and frequent diagnostic problems. If the congenital anomaly is isolated, non-syndromic, of polygenic/multifactorial etiology, it is the responsibility of the primary physician to establish the diagnosis and provide genetic counseling. However, in cases of multiple anomalies when the physician should establish the specific etiology, the recommendation is to refer the patient to a clinical geneticist. The main goal of the evaluation is to determine the etiology of the abnormalities. Only then can the physician provide responsible genetic counseling, helping the patient to achieve his/her maximum genetic potential and allow the family to have normal children.
Subject(s)
Humans , Congenital Abnormalities/diagnosis , Congenital Abnormalities/etiologyABSTRACT
Early diagnosis of drug-induced pneumonitis (DP) is important because timely drug withdrawal will significantly reduce the risk of irreversible fibrosis. Although DP is diagnosed based on the patient's history, physical examinations and laboratory data, a definitive diagnosis of DP is difficult because the clinical and laboratory data are often nonspecific. And the diagnostic methods for DP are still an area of debate. Furthermore, DP has characteristics similar to infectious pneumonia and collagen-vascular disease-related pulmonary fibrosis.Thus, infectious pneumonia and collagen-vascular disease-related pulmonary fibrosis are important considerations for the differential diagnosis of DP. The drug-induced lymphocyte stimulation test (DLST) is widely used to diagnose drug-induced pneumonia in Japan. However, the DLST is not reliable for the diagnosis of DP because the false-positive and-negative rates are relatively high and there are other limitations with the DLST.On the other hand, serum KL-6 produced by type II pneumocytes is a useful marker for the diagnosis of DP, because serum KL-6 levels are high in DP but low in bacterial pneumonia, <i>Mycoplasma pneumoniae pneumonia </i>and <i>Chlamydia pneumoniae </i>pneumonia. Other laboratory methods related to DP are also described in this article. Some herbal medicines may also induce DP. However, in several reports of herbal medicine-induced pneumonitis, DP was often diagnosed with DLST and/or infection was not excluded. Once the diagnosis of DP is definite, we should not continue using the causative drug, even if it is useful for the treatment of a specific disease. Clearly, the definitive diagnosis of DP involves careful consideration.