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Diagnosis and clinical biochemistry of inherited tubulopathies

Lookup NU author(s): Professor John SayerORCiD, Professor Simon PearceORCiD


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Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases. Defects in tubular handling of solutes may present with nephrocalcinosis or nephrolithiasis, rickets, acid-base, electrolyte or blood pressure disturbances. Biochemical analysis of both serum and urine, together with clinical history and examination, remain fundamental for their diagnosis, whilst understanding of underlying molecular mechanisms allows appropriate management.

Publication metadata

Author(s): Sayer JA; Pearce SHS

Publication type: Review

Publication status: Published

Journal: Annals of Clinical Biochemistry

Year: 2001

Volume: 38

Issue: 5

Pages: 459-470

ISSN (print): 0004-5632

ISSN (electronic): 1758-1001


DOI: 10.1258/0004563011901271