Kidney: Hereditary Disorders

Abstract

Hereditary disorders of the kidney consist of a heterogeneous group of diseases characterized by abnormalities in the ability of the kidneys to filter waste products and/or maintain acid–base and fluid homeostasis. Elucidation of the underlying genetic lesions has enhanced our basic understanding of renal physiology, as well as of normal kidney development and cellular differentiation.

Keywords: kidney diseases; kidney development; ion transport; hypertension; acid–base balance; electrolytes

Figure 1.

Structure of a nephron.

Figure 2.

Molecular anatomy of the podocyte foot process cytoskeleton. The podocyte foot processes contain a contractile system composed of actin, myosin‐II, α‐actinin‐4, talin, vinculin and synaptopodin that is connected to the GBM via α3β1 integrin. The linkage of the actin cytoskeleton to the slit diaphragm components, nephrin and P‐cadherin, may be mediated by CD2AP or by a complex of ZO‐1, α‐, β‐ and γ‐catenin. N: nephrin; P‐C: P‐cadherin; α: α‐catenin; β: β‐catenin; γ: γ‐catenin; Z: ZO‐1; α3: α3‐integrin; β1: β1‐integrin; V: vinculin; T: talin; P: paxillin; α‐act‐4: α‐actinin‐4; synpo: synaptopodin. (Reproduced from Somlo and Mundel )

Figure 3.

Structures of polycystin‐1, polycystin‐2 and polyductin/fibrocystin. Thick gray line indicates the membrane bilayer. Area below bilayer represents the cytosol. Area above bilayer represents the extracellular space or ER lumen. Protein motifs are identified in the figure legend. Light gray cylinders represent putative transmembrane segments. Only the membrane‐bound form of polyductin/fibrocystin is shown. Structures are not drawn to scale. (Reproduced from Igarashi and Somlo ).

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Further Reading

Alper SL (2002) Genetic diseases of acid–base transporters. Annual Review of Physiology 64: 899–923.

Bonnardeaux A and Bichet DG (2000) Inherited disorders of the renal tubule. In: Brenner BM (ed.) The Kidney, 6th edn, pp. 1656–1698. Philadelphia, PA: WB Saunders Company

Hildebrandt F and Otto E (2000) Molecular genetics of nephronophthisis and medullary cystic kidney disease. Journal of the American Society of Nephrology 11: 1753–1761.

Kashtan CE (1999) Alport syndrome: an inherited disorder of renal, ocular, and cochlear basement membranes. Medicine 78: 338–360.

Khoshnoodi J and Trygvasson K (2001) Congenital nephrotic syndromes. Current Opinion in Genetics and Development 11: 322–327.

Lifton RP, Gharavi AG and Geller GS (2001) Molecular mechanisms of human hypertension. Cell 104: 545–556.

Morello JP and Bichet DG (2001) Nephrogenic diabetes insipidus. Annual Review of Physiology 63: 607–630.

Scheinman SJ, Guay‐Woodford LM, Thakker RV and Warnock DG (1999) Genetic disorders of renal electrolyte transport. New England Journal of Medicine 340: 1177–1187.

Simon DB and Lifton RP (1998) Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes. Current Opinion in Cell Biology 10: 450–454.

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How to Cite close
Esquivel, Ernie L, and Somlo, Stefan(Jan 2006) Kidney: Hereditary Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005519]