Advertisment

Indian Journal of Nephrology About us |  Subscription |  e-Alerts  | Feedback | Login   
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size
 Home | Current Issue | Archives| Ahead of print | Search |Instructions |  Editorial Board  

Users Online:1147

Official publication of the Indian Society of Nephrology
 
CASE REPORT
Ahead of Print

Concurrent gitelman syndrome-like tubulopathy and grave's disease


 Department of Nephrology and General Medicine, Apollo Hospitals, Gream's Lane, Chennai, Tamil Nadu, India

Correspondence Address:
Rajeev A Annigeri,
Department of Nephrology, Apollo Hospitals, Chennai - 600 006, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_532_20

Gitelman syndrome (GS) is a rare autosomal recessive disorder characterized by the loss of function mutation of the solute carrier family-12 member-3 (SLC12A3) gene, encoding for sodium-chloride cotransporter of the distal convolute tubule. GS is characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. GS-like syndrome has been described rarely. Hyperthyroidism due to Grave's disease (GD) is characterized by the presence of autoantibodies to thyrotropin receptors. Concurrent occurrence of GS and GD is rarely reported, that too exclusively from far-east Asian populations. We describe a case of a 45-year-old man who presented with severe muscle weakness; the evaluation showed volume depletion, hypokalemia, hypomagnesemia, renal potassium and magnesium wasting, metabolic alkalosis, and hypocalciuria. He was also detected to have GD at the time of presentation. Genetic evaluation revealed a mutation in transient receptor potential melastatin 4 (TRPM4) gene. The clinical significance of this mutation in our patient remains unclear.


Print this article
Search
 Back
 
  Search Pubmed for
 
    -  Kumar RK
    -  Srimathy V
    -  Annigeri RA
 Citation Manager
 Article Access Statistics
 Reader Comments
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed93    
    PDF Downloaded2    

Recommend this journal

Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07