title: Renal manifestations of severe Rabson-Mendenhall syndrome: a case report.
abstract: BACKGROUND
  Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies.
  
  
  METHODS
  We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney.
  
  
  CONCLUSIONS
  This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance.
authors.affiliation: Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand. ben.wheeler@otago.ac.nz.
authors.forename: Yih Harng
authors.initials: YH
authors.lastname: Chong
authors.forename: Barry J
authors.initials: BJ
authors.lastname: Taylor
authors.forename: Benjamin J
authors.initials: BJ
authors.lastname: Wheeler