Obstructive Uropathy
Abstract Obstruction of the urinary tract is a simple event that initiates a complex series of reactions at the cellular level. A 3-mm ureteral stone has the ability to alter…
Chronic Tubulointerstitial Disease
Abstract Chronic interstitial nephritis is part of the spectrum of primary interstitial kidney diseases that are associated with interstitial inflammation and accompanying tubular cell damage. Interstitial nephritis has been generally…
Metabolic Acidosis
Abstract Metabolic acidosis describes a process in which nonvolatile acids accumulate in the body. It can be a result of excess production of acid, decreased excretion of acid by the…
Alport Syndrome and Related Disorders
Abstract Alport syndrome is a disease of collagen that always affects the kidneys, usually the ears and often the eyes. At least 85% of kindreds with Alport syndrome have X-linked…
Polycystic and Other Cystic Kidney Diseases
Abstract The discovery of the genes responsible for many hereditary cystic kidney diseases has led to the characterization of their protein products. Most of these proteins localize to the primary…
Fabry Disease
Abstract Fabry disease is an X-linked lysosomal storage disorder caused by accumulation of glycosphingolipids due to deficiency of the lysosomal enzyme α-galactosidase A. Deposition of substrate results in kidney failure,…
Sickle Cell Nephropathy
Abstract Sickle cell anemia is caused by the homozygous inheritance of the sickle β-globin gene and affects multiple organ systems. Because of its unique physiology, the kidney is particularly susceptible…
Kidney Disease Caused by Therapeutic Agents
Abstract Medications are crucial to the appropriate care of patients. However, acute and chronic kidney injury remains an unfortunate and relatively frequent adverse consequence of drug therapy. Although most medications…
Nephronophthisis and Medullary Cystic Kidney Disease
Abstract Nephronophthisis (NPHP) is an autosomal recessive kidney disease that inevitably progresses to end-stage kidney failure within the first three decades of life. NPHP can present as isolated kidney disease…
Genetically Based Kidney Transport Disorders
Abstract The elucidation of monogenic diseases of tubular function has provided valuable insights into mechanisms of kidney electrolyte transport. Proximal tubular disorders include X-linked and autosomal hypophosphatemic rickets caused by…
