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1.
Endocrine ; 84(1): 76-91, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38117452

RESUMO

INTRODUCTION: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. MATERIALS AND METHODS: Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. RESULTS AND DISCUSSION: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Osteomalacia , Adulto , Humanos , Raquitismo Hipofosfatêmico Familiar/genética , Osteomalacia/genética , Osteomalacia/metabolismo , Consenso , Qualidade de Vida , Hipofosfatemia/genética , Hipofosfatemia/metabolismo , Fatores de Crescimento de Fibroblastos/genética
2.
Salud UNINORTE ; 39(3): 1239-1270, dic. 2023. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1576807

RESUMO

resumen está disponible en el texto completo


ABSTRACT Background: Urinary tract infection (UTI) is a common disease in childhood and one of the most common causes of consultation in the pediatric emergency department. Its incidence ranges between 5% and 10% in children under 2 years old. Objective: To generate recommendations on the diagnosis, treatment, and follow-up of UTI in pediatric patients in Colombia. Methods: 15 questions of clinical interest in the diagnosis, treatment, and follow-up of UTI in pediatric patients were formulated. A systematic review of the literature was carried out to identify the clinical practice guidelines (CPG) available in UTI, in order to use this evidence to answer the proposed questions and articulate the recommendations. Local and international tools were used to select and evaluate the CPGs. Information was retrieved from the selected guidelines, preliminary recommendations were compiled, and final recommendations were approved by expert consensus. Finally, the strength and direction of each recommendation was assessed. Results: A total of 4 CPGs were selected: American Academy of Pediatrics, Spanish Ministry of Health, McTaggart, and National Institute for Health and Care Excellence. Final recommendations for the diagnosis, treatment, and follow-up of UTI are presented in this paper. Conclusions: These recommendations will guide the teams to make clinical decisions regarding health care of pediatric patients with UTI in Colombia. This will help to improve health care and to generate policies for timely diagnosis, treatment, and follow-up in these patients.

3.
Rev. colomb. nefrol. (En línea) ; 7(supl.2): 50-69, jul.-dic. 2020. tab
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1251579

RESUMO

resumen está disponible en el texto completo


Abstract Introduction: The numbers of SARS-CoV-2 infection in the pediatric population are low so far. There is limited information about the behavior of SARS-CoV-2 in a pediatric patient with chronic kidney disease. Objective: To formulate informed recommendations to the prevention, diagnosis, and management of SARS-CoV-2 infection in pediatric patients with kidney disease or acute kidney injury associated with COVID-19 in Colombia. Methodology: A rapid systematic review was performed in Embase and Pubmed databases and scientific societies, to answer questions prioritized by clinical experts in pediatric nephrology. The quality of the evidence was evaluated with validated tools according to the type of study. The preliminary recommendations were consulted by an expert group. The agreement was defined when approval was obtained from at least 70% of the experts consulted. Results: A response was obtained from ' 9 experts in pediatric nephrology in Colombia, who declared the conflict of interest before the consultation. The range of agreement for the recommendations ranged from 78.9% to '00%. The recommendations did not require a second consultation. Conclusion: The evidence-based recommendations for the management of a patient with kidney disease and COVID-19 in the Colombian context are presented.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Pediatria , COVID-19 , Pacientes , Sociedades Científicas , Colômbia , Insuficiência Renal Crônica , Injúria Renal Aguda , Nefrologia
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