GNAS-AS1基因Exon 5E杂合缺失突变致假性甲状旁腺功能减退症Ⅰb型合并低钾低镁血症的临床特点分析
许婧;徐淑静;叶萌;时立新
【期刊名称】《中华内分泌代谢杂志》 【年(卷),期】2018(034)012
【摘要】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
GNAS-AS1基因Exon 5E杂合缺失突变致假性甲状旁腺功能减退症Ⅰb型合并
