Diagnosis and clinical biochemistry of inherited tubulopathies

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