Kidney: Hereditary Disorders

Ernie L Esquivel, Yale University School of Medicine, New Haven, Connecticut, USA
Stefan Somlo, Yale University School of Medicine, New Haven, Connecticut, USA

Published online: January 2006

DOI: 10.1038/npg.els.0005519

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, -actinin-4, talin, vinculin and synaptopodin that is connected to the GBM via 31 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, -, - and -catenin. N: nephrin; P-C: P-cadherin; : -catenin; : -catenin; : -catenin; Z: ZO-1; 3: 3-integrin; 1: 1-integrin; V: vinculin; T: talin; P: paxillin; -act-4: -actinin-4; synpo: synaptopodin. (Reproduced from Somlo and Mundel 2000)
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 2002).
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 Further Reading
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    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.

Related Sub-Topics:

Developmental Disorders | Organogenesis | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders
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Article Title: Kidney: Hereditary Disorders
 
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]