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, Liddles 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.
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.
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