From the Metabolic Diseases Branch (A.M., J.W., W.F.S., S.K.A., J.E.B., L.S.W.) and the Kidney Diseases Branch (M.A.W., J.E.B.), National Institute of Diabetes and Digestive and Kidney Diseases, the Adeno-Associated Virus Biology Section (P.D.B., G.D.P., J.A.C.), Salivary Disorders Unit (B.M.W.), and Skeletal Disorders and Mineral Homeostasis Section (M.T.C.), National Institute of Dental and Craniofacial Research, the Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (M.S.L.), the Symptom Management Branch, National Institute of Nursing Research (B.W.), and the Department of Laboratory Medicine, Clinical Center (S.D.R.), National Institutes of Health, Bethesda, MD; and Kaiser Permanente, Sacramento, CA (Y.S.T.).
N Engl J Med. 2021 Nov 18;385(21):1974-1980. doi: 10.1056/NEJMoa2109409.
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.).
我们描述了两例因血清甲状旁腺激素 1 型受体 (PTH1R) 自身抗体的产生而导致获得性甲状旁腺激素 (PTH) 抵抗的病例,这些自身抗体可阻断 PTH 的结合和信号传递。这两种情况都与其他自身免疫表现有关,其中一种情况与非典型膜性肾小球肾炎有关。体外结合和信号转导检测鉴定出存在阻断 PTH1R 的 IgG 自身抗体,而在其他肾脏或自身免疫性疾病患者的血清样本中不存在这些抗体。(由国家糖尿病、消化和肾脏疾病研究所的内部研究计划等资助)。