RESUMEN
Glycosuria generally occurs when the threshold for glucose reabsorption by the proximal renal tubule is exceeded or when reabsorption of filtered glucose is impaired. Although the discovery of glycosuria in a child will prompt screening for diabetes mellitus, it is also a sign of a rare tubulopathy called "familial renal glycosuria" (OMIM #233100). This tubulopathy is linked to a defect in the sodium-glucose co-transporter 2, encoded by the SLC5A2 gene. Here, we describe and discuss two pediatric cases in whom familial renal glycosuria was discovered fortuitously after the observation of persistently high urine glucose levels in the absence of hyperglycemia.
Asunto(s)
Glucosuria Renal/diagnóstico , Glucosuria Renal/orina , Adolescente , Biomarcadores/orina , Femenino , Marcadores Genéticos , Pruebas Genéticas , Glucosuria Renal/genética , Humanos , Lactante , Masculino , Mutación , Transportador 2 de Sodio-Glucosa/genéticaRESUMEN
BACKGROUND: Achalasia or idiopathic megaesophagus is rare in children, and an association with growth hormone (GH) deficiency has rarely been described. CASE REPORT: This report is of a girl treated with recombinant GH (rGH) for isolated GH deficiency who simultaneously presented with idiopathic megaesophagus. CONCLUSION: This case report highlights the fact that practitioners need to be aware of this possible morbid association.
Asunto(s)
Acalasia del Esófago/etiología , Hormona de Crecimiento Humana/deficiencia , Niño , Femenino , HumanosRESUMEN
Cryptosporidium has emerged as an important cause of diarrheal illness worldwide, especially amongst young children and patients with infectious or iatrogenic immune deficiencies. The authors describe a case of mild cryptosporidiosis in a well-nourished, immunocompetent, one-year-old child. Rapid clinical and parasitological improvement was observed after a 3-day course of nitazoxanide.