Presentation
Hypercalciuria, polyuria and impaired growth.
Patient Data
Age: 15 years
Gender: Male
From the case:
Renal tubular acidosis with medullary nephrocalcinosis
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Bilateral renal dense medullary calcifications (medullary nephrocalcinosis).
Diffuse osteomalacia of the examined bones.
Case Discussion
The patient was known to have renal tubular acidosis (type 1), which refers to defects in the renal tubular transport of hydrogen ions, bicarbonate ions, or both in the kidneys resulting in a normal anion gap metabolic acidosis.
Renal medullary nephrocalcinosis is the commonest form of nephrocalcinosis and refers to the deposition of calcium salts in the medulla of the kidney.