Hypercalcaemia, hypophosphataemia, and inability to excrete hydrogen ions.
Investigation of a patient with hypercalcaemia, hypophosphataemia, and nephrocalcinosis failed to lead to a clear diagnosis. Neither primary hyperparathyroidism nor primary incomplete renal tubular acidosis could explain all the biochemical features, and it seems that more than one fundamental abnormality may have been present.
D000138:Acidosis / Q000150:complications*; D000141:Acidosis, Renal Tubular / Q000175:diagnosis; D000293:Adolescent; D000643:Ammonium Chloride; D002118:Calcium; D002136:Calcium, Dietary; D003937:Diagnosis, Differential; D006801:Humans; D006863:Hydrogen-Ion Concentration; D006934:Hypercalcemia / Q000150:complications*; D006961:Hyperparathyroidism / Q000175:diagnosis; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications / Q000175:diagnosis; D009994:Osmolar Concentration; D010710:Phosphates / Q000097:blood*; D014556:Urine; D014667:Vasopressins
D002136:Calcium, Dietary; D010710:Phosphates; D000643:Ammonium Chloride; D014667:Vasopressins; D002118:Calcium