A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Yuki Abe, Takashi Sato, Masaki Takagi, Toru Watanabe, Yoshihisa Nagayama, Tomonobu Hasegawa, Tokinari Abe

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Rabson-Mendenhall syndrome (RMS) is a genetic disorder characterized by severe insulin resistance and somatic characteristics. Recombinant insulin-like growth factor 1 (r-IGF-1) is used to treat RMS, as the IGF-1 and insulin receptors share homology. However, the effect of r-IGF-1 varies in patients and it is difficult to manage metabolic status appropriately in r-IGF-1 resistant cases. We report a Japanese boy with RMS who showed resistance to r-IGF-1 therapy and a novel mutation in the insulin receptor in the tyrosine kinase domain. Mutations in this region disturb tyrosine kinase catalytic activity in IGF-1 receptors as a result of dominant negative effects. We consider this mutation to be the cause of resistance to r-IGF-1. The patient also exhibited radiographical features of medullary sponge kidney and had severe nephrocalcinosis and hypokalemia, indicating Bartter syndrome. However, analysis revealed no mutations in the responsible genes and the etiology of the renal abnormalities therefore remains unknown.

Original languageEnglish
Pages (from-to)587-590
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume25
Issue number5-6
DOIs
Publication statusPublished - 2012 Jun 1

Keywords

  • Insulin receptor
  • Insulin-like growth factor 1
  • Medullary sponge kidney
  • Rabson-Mendenhall syndrome
  • Tyrosine kinase domain

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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