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1.
J Endocrinol Invest ; 45(4): 887-897, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34791604

RESUMO

PURPOSE: To identify consensus aspects related to the diagnosis, monitoring, and treatment of short stature in children to promote excellence in clinical practice. METHODS: Delphi consensus organised in three rounds completed by 36 paediatric endocrinologists. The questionnaire consisted of 26 topics grouped into: (1) diagnosis; (2) monitoring of the small-for-gestational-age (SGA) patient; (3) growth hormone treatment; and (4) treatment adherence. For each topic, different questions or statements were proposed. RESULTS: After three rounds, consensus was reached on 16 of the 26 topics. The main agreements were: (1) diagnosis tests considered as a priority in Primary Care were complete blood count, biochemistry, thyroid profile, and coeliac disease screening. The genetic test with the greatest diagnostic value was karyotyping. The main criterion for initiating a diagnostic study was prediction of adult stature 2 standard deviations below the target height; (2) the main criterion for initiating treatment in SGA patients was the previous growth pattern and mean parental stature; (3) the main criterion for response to treatment was a significant increase in growth velocity and the most important parameter to monitor adverse events was carbohydrate metabolism; (4) the main attitude towards non-responding patients is to check their treatment adherence with recording devices. The most important criterion for choosing the delivery device was its technical characteristics. CONCLUSIONS: This study shows the different degrees of consensus among paediatric endocrinologists in Spain concerning the diagnosis and treatment of short stature, which enables the identification of research areas to optimise the management of such patients.


Assuntos
Nanismo/diagnóstico , Nanismo/terapia , Consenso , Técnica Delphi , Nanismo/epidemiologia , Retardo do Crescimento Fetal/genética , Humanos , Espanha/epidemiologia , Inquéritos e Questionários
2.
Acta pediatr. esp ; 78(1/2): e57-e59, ene.-feb. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-202324

RESUMO

El hiperparatiroidismo primario es una entidad muy poco frecuente en la edad pediátrica. La mayoría de los casos son esporádicos y debidos a adenomas. Debe sospecharse ante una hipercalcemia con parathormona elevada. La resección quirúrgica es el tratamiento de elección, con una evolución favorable de los casos en general. Presentamos el caso de una niña de 9 años de edad con adenoma paratiroideo, iniciado en forma de cólico renal e hipercalcemia. La gammagrafía tiroidea con tecnecio-99 sestamibi confirmó el diagnóstico. Tras la intervención quirúrgica presentó una buena evolución, con normalización de las concentraciones de calcio. En el diagnóstico diferencial del cólico renal en niños, hay que tener en cuenta la posibilidad subyacente de enfermedades raras con tratamiento específico, como el adenoma paratiroideo


Primary hyperparathyroidism in children is a rare disorder. It is usually sporadic and due to adenoma. It should be suspected when hypercalcemia with elevated parathyroid hormone is detected. Surgical resection is the treatment of choice with a favorable outcome. We present the case of a 9-year-old girl with a parathyroid adenoma, whose primary manifestations were renal colic and hypercalcemia. The thyroid scan with technetium-99 sestamibi confirmed the diagnosis. After surgery blood calcium levels returned to normal. In the differential diagnosis of renal colic in children, the underlying possibility of rare diseases with specific treatment, such as parathyroid adenoma, should also be considered


Assuntos
Humanos , Feminino , Criança , Neoplasias das Paratireoides/diagnóstico , Hipercalcemia/diagnóstico , Adenoma/diagnóstico , Cólica Renal/diagnóstico , Neoplasias das Paratireoides/complicações , Hipercalcemia/etiologia , Cólica Renal/etiologia , Adenoma/complicações , Cintilografia , Ultrassonografia , Neoplasias das Paratireoides/cirurgia , Diagnóstico Diferencial
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