Inherited Tubulopathies of the Kidney

Renal Potassium Handling and Associated Inherited Tubulopathies Leading to Hypokalemia

Regulation of intracellular and extracellular potassium concentration is a fundamental process vital for cellular metabolism. Potassium intake, from the diet, is carefully balanced with excretion of potassium via the renal tract and gastrointestinal losses. Following a potassium load, extra-renal buffering of potassium occurs in peripheral tissues prior to its excretion. Thus potassium regulati...

Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.

Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support ...

Inherited salt-losing renal tubulopathies manifesting as normotensive hypokalemic metabolic alkalosis.

Inherited Kidney Diseases in Dogs and Cats

Inherited kidney diseases have been recognized in several breeds or kindreds of dogs and cats, and more examples of such conditions are likely to be identified as renal diseases that occur in a familial pattern are investigated thoroughly. In affected breeds/kindreds, accurate diagnosis of familial nephropathies is especially important because of the potential health and selective breeding impl...

The ERA-EDTA Working Group on inherited kidney disorders.