title: Gitelman's syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female.
abstract: BACKGROUND
  Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder that is characterized by episodic clinical manifestations and persistent biochemical abnormalities. The disorder manifests in adolescent or adult age and is characterized by transient episodes of muscle weakness and tetany. Its diagnosis requires a high index of suspicion and skillful interpretation of laboratory investigations.
  
  
  METHODS
  We herein present a case of a 20-year-old female patient who presented with generalized muscle weakness and mild renal insufficiency. Laboratory investigations revealed mild azotemia, high anion gap acidosis, hypokalemia, hypomagnesemia, and hypocalciuria. She recovered her renal functions and muscle power with appropriate management and is doing well seven months after her first presentation to our hospital.
  
  
  CONCLUSIONS
  This case highlights the need to create high index of suspicion among the general practitioners about this syndrome and an early referral of such patients to nephrologists for an accurate diagnosis and appropriate management.
authors.affiliation: Department of Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
authors.forename: Nazrul
authors.initials: N
authors.lastname: Hassan Jafry
authors.affiliation: Department of Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
authors.forename: Ejaz
authors.initials: E
authors.lastname: Ahmed
authors.affiliation: Department of Histopathology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
authors.forename: Muhammed
authors.initials: M
authors.lastname: Mubarak
keywords: Acidosis; Autosomal recessive; Azotemia; Gitelman’s syndrome; Hypokalemia