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Harrison's Principles of Internal Medicine, 18e
| Part 13. Disorders of the Kidney and Urinary Tract > |
Chapter 284. Polycystic Kidney Disease and Other Inherited Tubular Disorders
Sections: Introduction, Hereditary Disorders of Sodium, Potassium, and Magnesium Handling Without Hypertension, Hereditary Tubular Disorders Causing Hypertension Due to Salt Retention, Inherited Disorders of Water Handling, Inherited Renal Tubular Acidosis, Other Monogenic Disorders of Proximal Tubular Function (Fig. 284-3), Further Readings.
Topics Discussed: polycystic kidney diseases; renal tubular disorder.
Excerpt:"The polycystic kidney diseases are among the most common life-threatening inherited diseases worldwide and frequently cause kidney failure. Autosomal dominant polycystic kidney disease (ADPKD) is seen predominantly in adults (Fig. 284-1), whereas autosomal recessive polycystic kidney disease (ARPKD) is mainly a disease of childhood. Renal cysts also are seen in several other hereditary kidney diseases (Table 284-1), some of which may have defects in a common signaling pathway with ADPKD and ARPKD. Other inherited tubular diseases manifest primarily with alterations in fluid, electrolyte, acid-base, and mineral balance (Table 284-2).ADPKD is a systemic disorder resulting from mutations in either the PKD-1 or the PKD-2 gene. The PKD-1-encoded protein, polycystin-1, is a large receptor-like molecule, whereas the PKD-2 gene product, polycystin-2, has features of a calcium channel protein. Both are transmembrane proteins that are present throughout all segments of the nephron. They have been localized to the luminal surface of tubular cells in primary cilia, where they appear to serve as flow sensors; on the basal surface in focal adhesion complexes; and on the lateral surface in adherens junctions. The proteins are thought..."
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