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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. Its association with rhabdomyolysis is rare and with a fatal prognosis. We describe the cases of a family with Pompe disease with a clinical spectrum extending throughout different ages of onset, degrees of organ involvement, and rates of progression. The twin patients with adult form of Pompe disease presented episodes of acute renal failure and respiratory insufficiency with a good outcome.

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. We report a case of severe multiorganic failure in a subject after treatment with high doses of metformin.

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. The antibiotic therapy for the treatment has been adapted according to the bacteriological findings., Results: Urinary tract infections were observed in 60% of our patients (108 patients), and were more frequent in women than in men. The infections were typically caused by gram negative enteric organisms. Blood culture was positive in 10%, while urine culture was negative in 40%. The episodes of isolated cyst infections (negative urine culture and absence of white blood cell casts in urinary sediment) were more frequent than those of acute or chronic pyelonephritis (urinary sediment was positive for white blood cell casts)., Conclusion: We conclude that urinary tract infections are frequent in our patients with autosomal dominant polycystic kidney disease. Distinguishing between cyst infection and acute or chronic pyelonephritis is often a challenge, and the diagnosis relies mainly on clinical and bacteriological findings.