RESUMEN
A 14-year-old girl of Vietnamese descent with an unremarkable medical history presented with haemodynamic shock due to severe anaemia. This was caused by an aplastic crisis resulting from the combined effects of a Parvovirus infection and HbH disease. The HbH disease was a result of compound heterozygosity for the South East Asia (SEA) deletion and the Constant Spring mutation in the genes coding for alpha-globin chains (HbH/Hb Bart's). The girl had multiple blood transfusions and recovered. Family investigation revealed that, in addition to these 2 mutations in the alpha-globin gene, some family members also carried the 3.7-kb deletion of the alpha-globin gene, a mutation in the beta-globin gene resulting in HbE, and a novel mutation of unknown clinical significance in the beta-globin gene. This case demonstrates that essentially asymptomatic carriership of thalassaemia can have serious consequences when coupled with a concurrent infection.
Asunto(s)
Anemia/etiología , Anemia/terapia , Infecciones por Parvoviridae/complicaciones , Talasemia alfa/complicaciones , Talasemia alfa/genética , Adolescente , Transfusión Sanguínea , Femenino , Eliminación de Gen , Humanos , Mutación , Países Bajos , Resultado del Tratamiento , Vietnam/etnologíaRESUMEN
A two-months-old male infant with gastroenteritis had been given a sports drink (Aquarius) by the general practitioner as a treatment for dehydration and was referred because of ongoing vomiting and weight loss. The child recovered after reinstitution of normal bottle-feeding and administration of a regular oral rehydration solution (ORS). The sports drink was analysed and found to contain less salt than ORS. As a result, the salt:sugar ratio was not optimal. Sports drinks are therefore contraindicated in the treatment of dehydration in children.
Asunto(s)
Bebidas/efectos adversos , Deshidratación/terapia , Fluidoterapia , Gastroenteritis/complicaciones , Bebidas/análisis , Carbohidratos/análisis , Humanos , Lactante , Masculino , Soluciones para Rehidratación/química , Cloruro de Sodio/análisis , Vómitos , Pérdida de PesoRESUMEN
Two girls, 14 and 15 years old and known for several years with diabetes, came to the paediatric outpatients' clinic because they had been vomiting for 1-2 days. Laboratory tests revealed diabetic ketoacidosis. After administration of fluids and short-acting insulin, and sodium bicarbonate in one of the girls, the patients recovered, although one of them continued to have fluctuating glucose values. In most children, vomiting indicates benign gastro-enteritis and is therefore self-limiting. But in children with diabetes mellitus, vomiting can be more sinister because it could lead to, or be a symptom of, diabetic ketoacidosis. Even with normal blood glucose levels, severe metabolic disturbances are possible, and tests diagnosing diabetic ketoacidosis are recommended.