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:315

Official publication of the Indian Society of Nephrology
 ~   Next article
 ~   Previous article
 ~   Table of Contents

 ~   Similar in PUBMED
 ~  Search Pubmed for
 ~  Search in Google Scholar for
 ~Related articles
 ~   Citation Manager
 ~   Access Statistics
 ~   Reader Comments
 ~   Email Alert *
 ~   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed182    
    Printed19    
    Emailed0    
    PDF Downloaded18    
    Comments [Add]    

Recommend this journal

 

 CASE REPORT
Year : 2022  |  Volume : 32  |  Issue : 3  |  Page : 275-278

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

Rights and Permissions

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.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

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