• Mutations which inhibit the activity of transporters can have the same effects as diuretic drugs which inhibit the same transporters.
• Mutations which inactivate the NaK2Cl transporter in the loop of Henle mimic the effects of furosemide
• Mutations which inactivate the NaCl cotransporter in the distal tubule mimic the effects of thiazides
• Mutations which inactivate the ENaC transporter mimic the effects of amiloride
• Fanconi syndrome refers to proximal tubule dysfunction which causes a failure of reabsorption of substances including sodium, glucose, phosphate and bicarbonate.

The disorders discussed in this chapter are not common, but are important because they tell us much about the function of the molecules which they affect. Don't try to remember the details of the diseases, just try to use them to help you to further understand the function of the tubules.

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See other Chapters in this section

Liddle syndrome: An autosomal dominant form of human hypertension
Warnock DG 1998
Kidney International 53 18-24

Molecular basis of inherited disorders of renal solute transport
Lopez-Nieto CE, Brenner BM 1997
Curr Opinion in nephrology and hypertension 6: 411-421

Association of hypertension with T594M mutation in the beta subunit of epithelial sodium channels in black people resident in London.
Baker EH, Dong YB, Sagnella GA, Rothwell M et al. 1998
Lancet 351: 1388-92

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C. A. O'Callaghan 2004