RESUMEN
In the last few years, gamma hydroxybutyric acid (GHB) has been used increasingly as a party drug; this has led to a marked increase in the number of requests for professional help with the treatment of GHB addiction. Pharmaceutical GHB (sodium oxybate, the sodium-salt of GHB), registered for cataplexia in narcolepsy patients, is used off-label to treat the withdrawal symptoms associated with GHB addiction. Pharmaceutical GHB has a high sodium load. In this report we present the cases of two patients who developed symptomatic hypernatremia following treatment with pharmaceutical GHB and who thereafter needed intensive care for the severe withdrawal symptoms that they experienced.
Asunto(s)
Hipernatremia/inducido químicamente , Oxibato de Sodio/efectos adversos , Síndrome de Abstinencia a Sustancias/tratamiento farmacológico , Adulto , Femenino , Humanos , Masculino , Oxibato de Sodio/uso terapéuticoRESUMEN
Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.
Asunto(s)
ADN/análisis , Glomeruloesclerosis Focal y Segmentaria/genética , Proteínas de Microfilamentos/genética , Mutación , Nefritis Hereditaria/diagnóstico , Proteínas Nucleares/genética , Adolescente , Adulto , Niño , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Forminas , Pruebas Genéticas , Glomeruloesclerosis Focal y Segmentaria/diagnóstico , Glomeruloesclerosis Focal y Segmentaria/metabolismo , Humanos , Masculino , Proteínas de Microfilamentos/metabolismo , Proteínas Nucleares/metabolismo , LinajeRESUMEN
Immunotactoid glomerulopathy (ITG ) is a rare cause of nephrotic syndrome, occurring in approximately 0.1% of native kidney biopsies. We describe a 43-year-old woman who presented with a nephrotic syndrome. Renal biopsy revealed a membranous pattern of glomerular injury. In electron microscopy the subepithelial deposits were comprised of 40 nm wide tubular structures, confirming ITG . During follow-up the patient developed a remission of proteinuria with only supportive treatment.