La identificación de la alteración en el cromosoma 21 ha permitido catalogar las principales comorbilidades coexistentes en las personas con síndrome de Down. Desde 1866 John Langdon Down realizó una descripción de algunos problemas médicos en las personas con trisomía 21, pero no fue sino hasta 1970 cuando Coleman efectuó una revisión de las comorbilidades y estudios de laboratorio y gabinete que regularmente deben practicarse en esta población.
IntroductionDown syndrome is associated with various congenital anomalies and metabolic alterations such as hematological alterations. Values for the major hematological indicators vary with age and sex, but these values have not been described for Mexican children with Down syndrome.Objective. To describe the complete blood count (CBC) values of pediatric patients with Down syndrome and report the most common non-malignant hematological alterations. Materials and Methods.The analysis includes data from 450 patients with Down syndrome, 55.5% ware males, aged 0-18 years who were patients at the Mexican National Institute of Pediatrics and whose clinical charts included CBC panel results for the period January 2008 through March 2018. Results.A total of 3438 CBC panels were analyzed with descriptive statistics to find the values and statistical dispersion of the major indicators, with percentiles, and reported separately by sex and age group. The most common non-malignant hematological alterations found were macrocytic anemia, leukopenia, lymphopenia, and thrombocytosis. There were differences in values in all three series.Conclusions. The CBC panels and hematological alterations are summarized for patients with Down syndrome.
Background: Down syndrome (DS) is associated with various congenital diseases and malformations, including those of the kidneys and urinary tract. It has been thought that renal tubular acidosis (RTA) is more frequent in this population. The objective of this study was to assess the frequency of RTA and, secondarily, of other renal and urological disorders in persons with DS. Method: An observational, ambispective, descriptive and cross-sectional study of patients diagnosed with RTA, or suspected kidney or urological disorders, was carried out from July 2016 to September 2017 at the Down syndrome clinic of the Mexican National Institute of Paediatrics. Urinalysis was performed, along with analyses of venous blood gas, sodium, potassium, chlorine, calcium, phosphorus, albumin and creatinine. Those with any abnormal values were referred to nephrology for diagnostic evaluation. Results: Of a total of 700 patients seen at the clinic, 47 met the selection criteria. Of these, 32 had no RTA or other renal or urological alterations. The remaining 15 continued to the second phase of the study, where 6 were diagnosed with nephropathy or uropathy (RTA, systemic arterial hypertension, monosymptomatic familial haematuria, mild renal failure secondary to reflux nephropathy, urinary tract infection or right ureteropelvic stenosis). Four had mild metabolic acidosis without meeting the criteria for diagnosis of RTA. Conclusion: RTA is not more common in children with Down syndrome. Nephropathies and uropathies should be investigated in the evaluation of DS patients.
The American Academy of Pediatrics have previously described comorbidities and health care recommendations in Down syndrome.This review was conducted of topics that have not been included in previously published recommendations or that require updating, this topics are: neonatal hyperbilirubinemia, thyroid dysfunction, deglutition disorders, immunity, vaccination, pulmonary hypertension, diabetes mellitus, dyslipidemias, hyperuricemia, vitamin D, oxidative stress, and autism. Method: Searches were performed with CINAHL, Medline, EMBASE, PsycINFO, PubMed, LILACS, RIMA and BNI and assessed for methodological quality using the Joanna Briggs Institute tool. Conclusions: The medical aspects presented in this articlecan help to the health care professionals to provide more effective care. The early detection of some comorbiditiescan improve prognosis and lower the cost of care for the complications then may cause.
Los niños son el grupo social más vulnerable y los que tienen discapacidad se encuentran con una doble desventaja: la de ser niños y la de tener una discapacidad.En la mayoría de las ocasiones, el pediatra es el primer contacto de salud de las personas con discapacidad. En nuestra formación profesional no se ha incluido el tema discapacidad como un problema social y sanitario prevalente, por lo que en la mayoría de los casos nos enfrentamos ante un panorama totalmente desconocido.
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