Journal of nephrology
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Journal of nephrology · May 2003
ReviewPortuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M).
Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. The disease, also called familial amyloid polyneuropathy type I (FAP-I), is caused by a mutant transthyretin (TTR) protein, which is synthesized by the liver. A single amino acid substitution of methionine for valine at position 30 of the TTR molecule (TTR V30M) was found in Portuguese patients. ⋯ The progression towards end-stage renal disease (ESRD) affects 10% of the patients, and the survival after initiation of dialysis is a mean of 21 months. Patients who progress to ESRD have a late onset of neuropathy and lower prevalence of clinical disease in their families. Liver transplantation is a widely accepted treatment for FAP-I, and combined liver-kidney transplantation is also an option for selected patients with FAP-I and ESRD.
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The clinical spectrum of monogenic renal diseases is wide ranging, from autosomal dominant polycystic kidney disease to very rare inherited disorders. The genes involved in most of these diseases have been identified. ⋯ The challenges of the future will be to understand phenotypic variability and the molecular mechanisms of disease, and to design pharmacological tools to stop or retard its progression. The post-gene era has begun and the field of research in monogenic disorders is wide open.
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Journal of nephrology · Sep 2002
Review Comparative StudyDo non-steroidal anti-inflammatory drugs and COX-2 selective inhibitors have different renal effects?
The main mechanism of action of non-steroidal anti-inflammatory drugs (NSAIDs) is the inhibition of cyclooxygenase (COX), the enzyme involved in prostaglandin synthesis. NSAID nephrotoxicity is linked to this, since prostaglandins act not only in response to inflammatory stimuli, but also as modulators of physiological functions. When blood volume is compromised, prostaglandins play a role in the renal circulation including vasodilatation, renin secretion, and sodium and water excretion. ⋯ In the kidney, "constitutive" expression has been demonstrated for both isoforms. COX-2 inhibitor drugs, such as NSAIDs, reduce sodium excretion, and may cause acute renal failure in patients in whom the maintenance of adequate renal perfusion is "prostaglandin-dependent". Therefore, COX-2 inhibitors, like other NSAIDs, must be used cautiously or not at all in patients with predisposing diseases.
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Journal of nephrology · Jul 2002
Review Case ReportsMetformin-associated lactic acidosis: case reports and literature review.
Lactic acidosis is a widely recognized, though rare, side effect of metformin. This paper describes five patients admitted to Chang Gung Memorial Hospital from 1 September 1998 to 31 May 2001 suffering severe lactic acidosis caused by metformin, and reviews the literature. ⋯ Lactic acidosis is a serious reaction to metformin, and hemodialysis (the treatment of choice) should be done urgently to prevent serious complications. MALA should be suspected in patients presenting with wide anion gap metabolic acidosis and high blood lactate, even when they are non-diabetic.
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Hydroelectrolytic equilibrium alteration in dialysis patients before dialytic treatment consists in extracellular volume expansion and hyperkalemia. Extracellular volume expansion is due to salt and water retention. Because of the self-regulation phenomenon of cell volume, it is made prevalently at the expense of extracellular volume. ⋯ In the uremic patient the retention of nitrogenous catabolites causes the slowing- down in ATP production in Krebs' cycle because of prevalent use of this low -efficiency energetic substrate; ATP supply to Na+/K+ pump, which is ATP-asi- dependent, is reduced and consequently so is pump activity. Thanks to nitrogenous catabolite removal, dialysis recovers the use of other major efficiency energetic substrates, such as carbohydrates and lipids, in Krebs' cycle with an increase of ATP production rate and pump activity. This hypothesis could explain the REMP reduction in end-stage uremia and its correction with dialysis.