Hiperoxaluria

Kidney stones is a prevalent condition with a rising incidence in the last few decades. Diseasere lapse is an especially important issue, that requires further investigations in order to prevent new episodes. Adequate work up must be suited to patients´ characteristics such as age and the presence of risk factors forrecurrence. An initial approach should focus on a thorough clinical history, with special attention to dietary habits, analysis of the stone composition when available, and basic blood and urine exams to guide further investigations...

Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation...

OBJECTIVES: To evaluate hypoxia-inducible factor 1 subunit α (HIF-1α) expression during the performance of extracorporeal shock wave lithotripsy (ESWL) and to investigate the effects of pentoxyphylline on HIF-1α expression. METHODS: One hundred New Zealand Albino rabbit were used in the study divided in 5 groups. There were 20 rabbits in each group. The groups were divided in two parts: early (7 days) and late period (14 days) according to follow up duration...

INTRODUCTION: Urolithiasis is increasingly being diagnosed in children. Some of the major risk factors for kidney stones are hipercalciuria, hiperoxaluria, hipocitraturia and hydrogen ion content measured by pH. Recently, more and more attention is being paid to the impact of diabetes type 1 and 2 on the development of nephrolithiasis especially in periods of poor metabolic control. AIM OF THE STUDY: was to evaluate the BRI (bonn risk index - rate of spontaneous crystallization of calcium oxalate), the concentration of oxalate, citrate and urine pH in children with acid-base balance disturbances occurring in patients with newly diagnosed type 1 diabetes (DMT1)...

Primary hyperoxaluria is a congenital innate error of the metabolism of the amino acids, that is transmitted like an autosomal recessive character. Two types of hyperoxaluria exist: the primary type I, that corresponds to the peroxisomal enzymatic deficit of the alanine glyoxylate aminotransferase in the liver (AGT) and type II, due to the deficit of the glyoxylate reductase/hydroxypyruvate reductase deficiency (GRHPR). The primary type I (AGT) is the most frequenty. We report the case of a female infant of one month of age, that on her first day post birth, presented myoclonic convulsions and tonic spasms, both during wakefullness and sleep periods, that became more frequent and did not respond to the use of anticonvulsants...