Las cetoacidosis no siempre son diabéticas / Ketoacidosis is not always diabetic

La cetoacidosis alcohólica se presenta en forma de náuseas, vómitos y dolor abdominal en pacientes con enolismo crónico que, previamente al debut, consumen una cantidad de alcohol superior a la habitual. Bioquímicamente se caracteriza por acidosis metabólica con aumento del hiato amiónico, cetosis con predominio de beta-hidroxibutirato y glicemia normal, baja o moderadamente elevada. El principal diagnóstico diferencial esla cetoacidosis diabética. El tratamiento se basa en el aporte de tiamina e hidratos de carbono. Aunque el uso de insulina es controvertido, algunos pacientes, como en el caso que exponemos a continuación, requieren de su administración para corregir la hiperglicemiasecundaria a la sobrecarga de glucosa (AU)

Alcoholic ketoacidosis presents with nausea, vomiting, and abdominal pain in chronic alcoholics who drink a larger amount of alcohol than usual just before onset. Biochemically this condition is characterized by metabolic acidosis with a high anion gap, ketosis with a high ratio of β-hydroxybutyrate, and a glucose level that is low, normal or only slightly elevated. The main differential diagnosis is diabetic ketoacidosis. Treatment involves thiamine and carbohydrate replacement. Although the use of insulin is controversial, some patients, such as the one whose case we report, require insulin to correct hyperglycemia secondary to glucose overload (AU)

Hipertiroidismo en el síndrome de Down / Hyperthyroidism in Down síndrome

La patología tiroidea, sobre todo el hipotiroidismo, es frecuenteen las personas con síndrome de Down (SD). El hipertiroidismotambién se presenta con mayor frecuencia enlos pacientes con SD, si bien hasta ahora sólo se habían publicadocasos aislados o series cortas. Recientemente, hemospublicado la serie más extensa a día de hoy sobre la relaciónentre hipertiroidismo y SD. Se realizó una revisión sistemáticade los 1.856 pacientes atendidos en la Fundació CatalanaSíndrome de Down (FCSD) entre los años 1991 y 2006 y sediagnosticaron 12 casos de hipertiroidismo. La etiología fueen todos ellos la enfermedad de Graves y, tras un tratamientoinicial con fármacos antitiroideos, todos los pacientes requirierontratamiento definitivo con Yodo 131. El diagnósticoprecoz mediante cribado anual bioquímico suele ser ineficazcomparado con los resultados que da con el hipotiroidismo.El hipertiroidismo puede tener efectos sobre el crecimiento yel desarrollo de los niños y adolescentes con SD, que son reversiblescon la instauración del tratamiento (AU)

Thyroid conditions, particularly hypothyroidism, arecommon in people with Down syndrome (DS). Hyperthyroidismis also found at a higher-than-average rate in patientswith DS, although only isolated case reports andshort series had been published up until now. We recentlypublished the longest series so far examining the relationshipbetween hyperthyroidism and DS. A systematicreview of the 1,856 patients seen at Fundació CatalanaSíndrome de Down (FCSD) from 1991 to 2006 was undertaken,and 12 cases of hyperthyroidism were diagnosed.The etiological cause was found to be Graves diseasein all cases. After initial treatment with antithyroid drugs,all patients required definitive treatment with radioactiveiodine I-131. Annual biochemical screening for earlydiagnosis is less effective than it is for hypothyroidism.Hyperthyroidism may influence growth and developmentin children with DS; treatment can reverse its impact (AU)

Hyperthyroidism in a population with Down syndrome (DS).

BACKGROUND: Thyroid disorders are frequent in patients with Down syndrome (DS). It is well-known that the prevalence of hypothyroidism is high but data on hyperthyroidism are scarce. OBJECTIVES: To assess the prevalence, aetiology, clinical characteristics, evolution and treatment of hyperthyroidism in a population with DS attending a specialized medical centre. METHODS: Data were gathered by systematic review of 1832 medical records from the Catalan DS Foundation, in Spain, registered between January 1991 and February 2006. Patients with the diagnosis of hyperthyroidism were identified and data on clinical features, physical examination, laboratory and imaging tests, treatment and evolution were collected. RESULTS: Twelve patients with hyperthyroidism were recorded (6.5 cases/1000 patients with DS). There were 5 males and 7 females, with a mean age at diagnosis of 16.8 years. The most common presenting symptoms were decreased heat tolerance, sweating, increased irritability and weight loss. All patients had diffuse goitre at physical examination and two patients presented with exophthalmia. Clinical diagnosis was confirmed biochemically. Thyroid-stimulating immunoglobulin levels were raised (mean 128.1 U/l) and imaging tests confirmed the diagnosis of Graves' disease in all cases. Patients started treatment with carbimazole at diagnosis and after a mean period of 40 months without clinical remission, they required definitive therapy with radioactive iodine. Subjects developed hypothyroidism after radio-iodine therapy and replacement therapy with levothyroxine was necessary. CONCLUSIONS: Hyperthyroidism is more prevalent in patients with DS than in the general population and has no gender predominance. It is caused mainly by Graves' disease. Anti-thyroid drugs were not effective in achieving remission and radioactive iodine as a definitive treatment was required in all cases.