RESUMEN
No abstract available.
Asunto(s)
Adulto , Humanos , Masculino , Análisis Mutacional de ADN , Diabetes Insípida Nefrogénica/complicaciones , Progresión de la Enfermedad , Predisposición Genética a la Enfermedad , Fallo Renal Crónico/diagnóstico , Mutación , Fenotipo , Receptores de Vasopresinas/genética , Diálisis Renal , Tomografía Computarizada por Rayos XRESUMEN
There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, adefovir, didenosine and tenofovir. But neither FS nor NDI has been documented with abacavir therapy. We are reporting the first case of abacavir-induced reversible FS with NDI in a patient with acquired immunodeficiency syndrome, who recovered completely with supportive treatment and discontinuation of abacavir.
Asunto(s)
Adulto , Fármacos Anti-VIH/efectos adversos , Diabetes Insípida Nefrogénica/complicaciones , Didesoxinucleósidos/efectos adversos , Síndrome de Fanconi/inducido químicamente , Infecciones por VIH/complicaciones , Humanos , MasculinoRESUMEN
Most cases of hydronephrosis are caused by urinary tract obstruction. However, excessive polyuric syndrome rarely gives rise to non-obstructive hydronephrosis, megaureter, and a distended bladder. The authors report here on two cases of congenital nephrogenic diabetes insipidus (NDI) with severe bilateral hydronephrosis and megaureter. It is Interesting that the patients were symptomless except for their polyuria, and they both presented with bilateral hydronephrosis. Fluid deprivation testing revealed the presence of AVP resistant NDI. Gene analysis for these patients showed the AVP receptor 2 (V2R) missense mutations (Q225X and S126F), which have previously been reported on in other studies. We made the diagnosis of NDI by using a physiologic test, and we confirmed it by mutation analysis of the V2R gene.
Asunto(s)
Masculino , Humanos , Adulto , Receptores de Vasopresinas/genética , Poliuria/complicaciones , Mutación Missense , Hidronefrosis/complicaciones , Diabetes Insípida Nefrogénica/complicaciones , Análisis Mutacional de ADNRESUMEN
A one-year-boy presented with constipation, fever, failure to thrive and developmental delay from the neonatal period. Investigations revealed persistent hypernatremia and deranged renal functions. Diagnostic work-up was suggestive of nephrogenic diabetes insipidus (NDI). Computerized tomography of head revealed calcification in the frontal, thalamic and basal ganglia region. The rare association of NDI and intracranial calcification is discussed.