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.
Case Presentation: 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.
Implication for health policy/practice/research/medical education:
Gitelman’s syndrome (GS) is a rare primary hereditary renal tubular disorder that is characterized by episodic clinical manifestations and persistent biochemical abnormalities. It is also known as familial hypokalemia-hypomagnesemia. It is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, encoding the thiazide-sensitive NaCl cotransporter (NCC), are found in the majority of GS patients. In a small number of cases, mutations in another gene, CLCNKB, encoding the chloride channel ClC-Kb have been implicated. 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. The long-term prognosis is excellent.
Please cite this paper as: Jafry NH, Ahmed E, Mubarak M. Gitelman’s syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female. J Nephropathol. 2015; 4(2):38-42. DOI: 10.12860/jnp.2015.08