Epidemiology The prevalence of nephrolithiasis in the US population rose from 3.8% in the late 1970s to 8.8% in the late 2000s, and it is estimated that more than 5 billion US dollars are spent on stone disease annually. Nephrolithiasis…
Obstruction of the urinary tract can occur anywhere between the collecting duct and the urethral meatus. Microcrystals in the collecting duct, urinary calculi, tumors, and luminal strictures all may block the normal flow of urine. Regardless of the cause, the…
Primary interstitial kidney disease comprises a diverse group of disorders that elicit interstitial inflammation associated with tubular damage. Traditionally, interstitial nephritis has been classified morphologically and clinically into acute and chronic forms. Acute interstitial nephritis (AIN) generally induces rapid deterioration…
Fabry disease (OMIM 301500) is an X-linked lysosomal storage disorder that results from absent or deficient activity of the enzyme α-galactosidase A (αGAL; EC 3.2.1.22). This enzyme is encoded by the GLA gene on Xq22 ( Fig. 42.1 ), with…
Alport syndrome is a disease of type IV collagen that always affects the kidneys, usually the ears, and often the eyes. Cecil Alport described the association of hereditary hematuric nephritis with hearing loss in a family whose affected male members…
Nephronophthisis (NPHP) and medullary cystic kidney disease (MCKD) represent a set of rare genetic kidney diseases with a similar kidney histopathology, which includes interstitial fibrosis with tubular atrophy, changes in the tubular basement membrane (TBM), and cyst formation. These two…
Autosomal Dominant Polycystic Kidney Disease Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, occurring in 1 of 400 to 1000 live births. It is the most common of all hereditary cystic disorders ( Table 39.1 ).…
Sickle cell anemia is the most common monogenic disorder in the world and is caused by the homozygous inheritance of the sickle β-globin gene (HbSS), produced by a single-point mutation in chromosome 11. The resultant β chain of the hemoglobin…
The coming of age of clinical chemistry in the latter half of the 20th century, bringing with it the routine measurement of electrolytes and minerals in patient samples, produced descriptions of distinct inherited syndromes of abnormal tubular transport in the…
Ancestry and Chronic Kidney Disease Racial disparities in the incidence rates of chronic kidney disease (CKD) are widely appreciated. Compared to Americans of European descent, Americans of African descent face approximately a 4-fold higher risk for developing end-stage kidney disease…