Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Background: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease.

Methods: A retrospective analysis was performed using charts from 14 children with confirmed diagnosis.

[Rapidly progressive crescentic glomerulonephritis in the elderly].

Rapidly progressive glomerulonephritis (RPGN) is a syndrome characterized by glomerular lesions giving rise to acute renal injury that develops within a brief period of time, usually days or a few months. It is classified according to the underlying mechanism of injury and the immunofluorescence findings into four main disorders. In the last decade, nephrologists have witnessed a steady rise in the mean age of the patients diagnosed with RPGN.

Diffuse hyperplastic perilobar nephroblastomatosis.

Nephroblastomatosis is a rare preneoplastic lesion defined as the presence of diffuse or multifocal nephrogenic rests. They are divided into 4 categories: perilobar, intralobar, combined, and universal. The aim of this report is to describe a case of diffuse hyperplastic perilobar nephroblastomatosis.

Myocardial involvement during the early course of type 2 diabetes mellitus: usefulness of myocardial performance index.

To evaluate whether myocardial performance index detects a subclinical impairment of left ventricular systolic and diastolic function in patients with early stage of type 2 diabetes, without coronary artery disease, with or without hypertension. Furthermore, to evaluate whether some echocardiographic parameters relate to the metabolic control. Fourty-five consecutive male patients (mean age 52.

Dual renin-angiotensin system blockade plus oral methylprednisone for the treatment of proteinuria in IgA nephropathy.

Renin-angiotensin system inhibition is a widely accepted approach to initially deal with proteinuria in IgA nephropathy, while the role of immunosuppressants remains controversial in many instances. A prospective, uncontrolled, open-label trial was undertaken in patients with biopsy-proven IgA nephropathy with proteinuria > 0.5 g/day and normal renal function to assess the efficacy of a combination treatment of angiotensin converting enzyme inhibitors plus angiotensin receptor blockers enalapril valsartan coupled with methylprednisone to decrease proteinuria to levels below 0.

Growth hormone promotes glomerular lipid accumulation in bGH mice.

Background: Bovine growth hormone (bGH) transgenic mice develop progressive glomerulosclerosis and exhibit abnormalities in hepatic lipid metabolism. We have previously shown that growth hormone up-regulates the low-density lipoprotein (LDL) receptor and 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGR) in mouse mesangial cells. However, a role of lipid abnormalities in bGH kidney disease has not yet been demonstrated.

Glomerular hypertrophy is associated with hyperinsulinemia and precedes overt diabetes in aging rhesus monkeys.

Background: Rhesus monkeys have a high prevalence of obesity and spontaneous type 2 diabetes mellitus after the age of 10 years. These monkeys go through a defined, sequential set of metabolic phases, including fasting hyperinsulinemia, impaired glucose tolerance, and fasting hyperglycemia. Using these monkeys, we addressed the hypothesis that renal structural features characteristic of diabetic nephropathy might precede the appearance of overt diabetes.

[Association of non-compacted myocardium and patent ductus arteriosus in a young asymptomatic male patient: findings in screening for contact sport eligibility].

Spongy or noncompacted myocardium is a rare congenital cardiomyopathy characterized by parietal myocardial structural alterations secondary to intrauterine arrest of myocardial fiber compaction. It can be associated with other congenital cardiovascular malformations or manifest as an isolated disease. It is characterized by a wide variety of clinical presentations that range from complete absence of symptoms to thromboembolic manifestations, ventricular arrhythmias and congestive heart failure; the short- and mid-term prognosis is quite severe.