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Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib

Publikace na Lékařská fakulta v Hradci Králové |
2018

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

Calcium is essential for proper muscular function and metabolism. Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism (PHP). 16-year old previously healthy boy was admitted to intensive care unit with convulsions lasting for three minutes and a transient loss of consciousness.

Laboratory results revealed severe hypocalcemia (total S-Ca < 1.0 mmol/L; normal 2.2-2.6 mmol/L), hyperphosphatemia (S-P 2.8 mmol/L; normal 0.6-1.6 mmol/L). Serum creatinkinase (S-CK) activity was 32 μkat/L (normal 0.57-2.45 μkat/L).

Other basic biochemical parameters including creatinine, troponin, alkaline phosphatase were within normal values. Calcemia was gradually corrected within two weeks by intravenously and orally administered calcium and by cholecalciferol.

S-CK reached a maximum of 222 μkat/L on day 4 and dropped to 7.2 μkat/L on day 14. Boy had no myalgias, neither clinical signs of myopathy.

Echocardiography was normal with normal myocardial contractility, without any signs of calcification. The serum level of parathyroid hormone (S-PTH) was high (12 pmol/L; normal 0.7-5.5 pmol/L), fully compatible with the diagnosis of PHP.

Molecular analysis revealed pseudohypoparathyroidism type Ib (PHPIb).In conclusion, manifest tetany and even mild myopathy with very high S-CK can occur in hypocalcemic patients and usually resolves after normalization of hypocalcemia.