Abstract
Carbonic anhydrase II (CA II) deficiency was identified in a patient presenting with osteopetrosis, and cerebral calcifications. The defect was demonstrated in erythrocytes by starch gel electrophoresis, immuno-diffusion with specific anti-serum and reverse-phase HPLC for the quantitation of the CA II and CA I isozymes levels. The patient appeared to have a mixed type RTA including both a proximal and a distal defect. Renal responses to acetazolamide and parathyroid hormone were studied on different days. Acetazolamide injection given at a dose of 100 mg during acid loading, induced an abrupt rise of both urinary pH and bicarbonate. Renal response to IV parathyroid hormone (bPTH 1-34 Beckman, 200 MRC units) was blunted for both urinary cAMP and phosphate excretions. In the serum PTH was normal, calcium slightly decreased (8,6-8,8 mg/dl) and phosphorus elevated for age (6,0 to 6,2 mg/dl), from infancy to adolescence. The enhancement of HCO3 excretion due to acetazolamide suggests the persistence of a functionnaly normal membrane bound CA in the kidneys of CA II deficient patients while the blunted cAMP response associated with hyperphosphatemia supports the hypothesis that CA II might be required to achieve the normal intracellular response to PTH.
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Vainesel, M., Vertongen, F. & Sly, W. Renal responses to acetazolamide and parethyroid hormone in carbonic anhydrase II. deficiency. Pediatr Res 18, 811 (1984). https://doi.org/10.1203/00006450-198408000-00107
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DOI: https://doi.org/10.1203/00006450-198408000-00107