Rabson Mendenhall Syndrome with Medullary Nephrocalcinosis: A Novel Mutation Reported

Authors

  • Dr. Soundaram V.
  • Dr. Ravikumar K. G.
  • Dr. Ravikumar T.

Keywords:

Rabson Mendenhall Syndrome, Syndrome of insulin resistance, INSR gene mutation

Abstract

Background: Rabson Mendenhall syndrome is a syndrome of insulin resistance. Case characteristics: Clinical features and labs of our patient favoured insulin resistance, genetic analysis done showed a compound heterozygous mutation in the INSR gene which has not been reported earlier. Outcome: We report a new mutation causing disease and medullary nephrocalcinosis association which has been reported only once. Message: Biguanides are effective in reducing hyperglycaemia in Rabson Mendenhall syndrome.

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References

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Published

2018-03-12

How to Cite

Dr. Soundaram V., Dr. Ravikumar K. G., & Dr. Ravikumar T. (2018). Rabson Mendenhall Syndrome with Medullary Nephrocalcinosis: A Novel Mutation Reported. VIMS Health Science Journal, 5(1), 40–41. Retrieved from https://vimshsj.edu.in/index.php/main/article/view/278

Issue

Vol. 5 No. 1 (2018): March

Section

Case Report

License

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