Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor

N Engl J Med. 2021 Nov 18;385(21):1974-1980. doi: 10.1056/NEJMoa2109409.

Abstract

We describe two cases of acquired parathyroid hormone (PTH) resistance consequent to the development of serum PTH type 1 receptor (PTH1R) autoantibodies, which block PTH binding and signaling. Both cases were associated with other autoimmune manifestations, and one case was associated with atypical membranous glomerulonephritis. In vitro binding and signaling assays identified the presence of PTH1R-blocking IgG autoantibodies, which were not present in serum samples from patients with other renal or autoimmune disorders. (Funded by the Intramural Research Programs of the National Institute of Diabetes and Digestive and Kidney Diseases and others.).

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adult
  • Aged
  • Autoantibodies / blood*
  • DNA Mutational Analysis
  • Female
  • Glycopeptides / blood
  • Humans
  • Hypocalcemia / etiology*
  • Hypocalcemia / genetics
  • Immunoglobulin G / blood
  • Immunophenotyping
  • Kidney Glomerulus / pathology
  • Microscopy, Electron
  • Mutation
  • Parathyroid Hormone / metabolism*
  • Pseudohypoparathyroidism / genetics
  • Receptor, Parathyroid Hormone, Type 1 / immunology*

Substances

  • Autoantibodies
  • Glycopeptides
  • IGG autoantibody binding determinant
  • Immunoglobulin G
  • Parathyroid Hormone
  • Receptor, Parathyroid Hormone, Type 1