Generalized transport dysfunction of the proximal
renal tubule caused by mutation in the CLCN5 chloride channel gene (gene map
locus at Xp11.22), leading to impaired reabsorption of amino acids, glucose,
calcium, phosphate, bicarbonate, magnesium, sodium, potassium, water, uric
acid, and lowmolecular-weight proteins. Urinary losses can lead to
polyuria, polydipsia, dehydration, hypokalemia, metabolic acidosis, and
hypophosphatemia. The second component of the syndrome is a vitamin
D-resistant metabolic bone disease that is responsible for rickets in
children and osteomalacia in adults.