Pompe disease with heterogeneous presentations within a family.

Pompe disease is an acid maltase deficiency being part of glycogen storage diseases that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality from acid maltase deficiency.

Metformin-induced lactic acidosis associated with multiorganic failure.

Lactic acidosis is a rare but severe complication in patients with type 2 diabetes treated with metformin. Patients with lactic acidosis show commonly signs of shock, tissue hypoxia, acute hepatic or renal failure and the link between metformin therapy and lactic acidosis may be coincidental, associated or causal. Excessive plasma metformin concentrations show that lactic acidosis is due to a toxicological mechanism.

Urinary tract infections in polycystic kidney disease.

Aim: The aim of this study was to evaluate the bacteriological findings and the frequency of urinary tract infections in autosomal dominant polycystic kidney disease and their impact on renal function.

Methods: One hundred eighty patients with autosomal dominant polycystic kidney disease were studied from 2003 to 2008. Subjects were considered as having urinary tract infections if they had had one or more episodes of urinary infection.