Akhtar Naureen, Hafeez Farkhanda
Department of Nephrology, The Children's Hospital and Institute of Child Health, Lahore.
J Coll Physicians Surg Pak. 2009 Apr;19(4):257-9.
Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia.
吉特曼综合征是一种遗传性疾病,由于编码远端曲管氯化钠共转运体(NCCT)的基因功能突变缺失所致,其特征为低钾性代谢性碱中毒、低镁血症和低钙尿症。本病例报告了一名青春期女孩,出现手足抽搐发作和行走困难,实验室检查提示吉特曼综合征并伴有低磷血症。