Full Description
Patients with rare disorders are often condemned to neglect: their disease is difficult to recognize, the information available on possible therapies is scanty (if there exists one at all) and, due to small patient populations, little research is done in the field. However, there are several examples of how research into the etiology and pathogenesis of rare renal disorders has provided important information on the normal physiology of the kidney. Featuring reviews by leading experts in their field, this volume offers up-to-date information on a number of uncommon renal disorders, including Fabry Disease, von Hippel-Lindau Disease, tuberous sclerosis, autosomal recessive polycystic disease, medullary cystic disease, Alport Syndrome, Liddle's Syndrome, primary hyperoxaluria, systemic vasculitis and familial and recurrent hemolytic uremic syndrome. A chapter on gene therapy in nephrology is also included. This book will be important reading for all those involved in basic and clinical research of the kidney. Moreover, it will provide valuable information for the practicing nephrologist wishing to learn more about how to recognize serious but neglected renal disorders.
Contents
Rare renal diseases in review; Liddle's syndrome - genetics and mechanisms of Na+ channel defects, Warnock, D.G.; the primary hyperoxalurias, Marangella, M., et al.; update on tuberous sclerosis complex, Torres, V.E., et al.; autosomal recessive polycystic kidney disease, Sessa, A., et al.; nephrology; genetics; metabolism, pediatrics juvenile nephronophthisis and related variants; clinical features and molecular approach, Caridi, G., et al.; medullary cystic kidney disease - past and present, Scolari, F., et al.; familial hematuric syndromes - Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes, Kashtan, C.E.; renal involvement in systemic vasculitis, Sinico, R.A., et al.; familial and recurrent forms of hemolytic uremic syndrome/thrombotic thrombocytopenic purpura, Noris, M., Remuzzi, G.; gene therapy to the kidney, Tomasoni, S., et al.; hereditary hypokalemic salt-losing tubulopathies - Bartter-like syndromes, Peters, M., et al.; Fabry disease (a-galactosidase A deficiency); renal involvement and enzyme replacement therapy, Desnick, R.J., Wasserstein, M.P., Banikazemi, M.; the challenge of kidney lesions in von Hippel-Lindau disease, Neumann, H.P.H., Riegler, P., Huber, W., Corradini, R., Sessa, A., Fontana, D., Wetterauer, U., Janetschek, G.; heterozygotes with Fabry s disease, Grunfeld, J.P., Lidove, O., Barbey, F. Special problems with Fabry disease, von Hippel Lindau disease and tuberous sclerosis complex: the role of renal biopsy in the diagnosis of Fabry's disease, Frasca, G.M. (Part contents.
