Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetologica 2013, 50: 951-957. PMID: 23824322, DOI: 10.1007/s00592-013-0490-x.Peer-Reviewed Case Reports and Technical NotesConceptsSevere insulin resistanceRabson-Mendenhall syndromeDonohue syndromePatient 3Insulin resistanceAbsence of hypertensionGene mutationsINSR mutationsInsulin receptor gene mutationsBartter-like syndromeBartter syndrome type IIReceptor gene mutationsYear of birthSevere hirsutismClinical featuresFifth patientPotassium supplementationAcanthosis nigricansHyperreninemic hyperaldosteronismRenal abnormalitiesCongenital syndromePatientsPubertal femalesSyndromeINSR gene