Analysis of clinical characteristics on a hybrid deletion mutation of GNAS-AS1 gene Exon 5E leading to pseudohypoparathyroidism with hypokalemia and hypomagnesemia / 中华内分泌代谢杂志

ABSTRACT

To improve clinicians'understanding of the diagnosis and treatment of pseudohypoparathyroidism with hypokalemia and hypomagnesemia. The clinical manifestations, laboratory examinations, imaging data, gene results, diagnosis and treatment of a pseudohypoparathyroidism type Ⅰb with hypokalemia and hypomagnesemia patient were retrospectively analyzed. The literatures related to pseudohypoparathyroidism in recent years were also summarized. A young man, mainly manifested as repeated tetany. The physical examination showed short stature, round face, short neck, with positive Trousseau sign. The laboratory examination revealed parathyroid hormone resistance, hypocalcemia, hyperphosphatemia, hypokalemia and hypomagnesemia. The urinary calcium and phosphorus levels were low. Cerebral magnetic resonance imaging ( MRI ) showed bilateral basal ganglia calcification. Genetic screening revealed a hybrid deletion mutation of GNAS-AS1 gene Exon 5E. After the supplement of element calcium 720 mg/d, plain vitamin D 375 U/d, active vitamin D 0.5 μg/d and potassium chloride 3 g/d, the levels of blood potassium and phosphorus rise to normal, the levels of blood calcium and magnesium were close to normal. Pseudohypoparathyroidism typeⅠb may accompany with hypokalemia and hypomagnesemia.