CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. Hyperparathyroid bone disease also develops in some patients. PHP1B patients are at theoretical risk of developing tertiary hyperparathyroidism. SETTING: Patients were studied in a clinical research center. PATIENTS: Five female PHP1B patients presented with hypercalcemia and elevated PTH. INTERVENTION: Patients either underwent parathyroidectomy (n = 4) or received cinacalcet (n = 1). MAIN OUTCOME MEASURES: Serum calcium and PTH were serially measured before and after intervention. RESULTS: Five PHP1B patients developed concomitantly elevated serum calcium and PTH levels (range, 235-864 ng/liter) requiring termination of calcium and vitamin D therapy (time after diagnosis, 21-42 yr; median, 34 yr), consistent with tertiary hyperparathyroidism. Four patients underwent parathyroidectomy with removal of one (n = 2) or two (n = 2) enlarged parathyroid glands. Calcium and vitamin D therapy was reinstituted postoperatively, and at 93-month median follow-up, PTH levels ranged between 56 and 182 (normal, <87) ng/liter. One patient was treated with cinacalcet, resulting in resolution of hypercalcemia. CONCLUSIONS: PHP1B patients are at risk of developing tertiary hyperparathyroidism and/or hyperparathyroid bone disease and should therefore be treated with sufficient doses of calcium and vitamin D to achieve serum calcium and PTH levels within or as close to the normal range as possible. Surgery is the treatment of choice in this setting. Cinacalcet may be a useful alternative in those who do not undergo surgery.
CONTEXT: Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop hypocalcemia and secondary hyperparathyroidism. Hyperparathyroid bone disease also develops in some patients. PHP1B patients are at theoretical risk of developing tertiary hyperparathyroidism. SETTING:Patients were studied in a clinical research center. PATIENTS: Five female PHP1B patients presented with hypercalcemia and elevated PTH. INTERVENTION: Patients either underwent parathyroidectomy (n = 4) or received cinacalcet (n = 1). MAIN OUTCOME MEASURES: Serum calcium and PTH were serially measured before and after intervention. RESULTS: Five PHP1B patients developed concomitantly elevated serum calcium and PTH levels (range, 235-864 ng/liter) requiring termination of calcium and vitamin D therapy (time after diagnosis, 21-42 yr; median, 34 yr), consistent with tertiary hyperparathyroidism. Four patients underwent parathyroidectomy with removal of one (n = 2) or two (n = 2) enlarged parathyroid glands. Calcium and vitamin D therapy was reinstituted postoperatively, and at 93-month median follow-up, PTH levels ranged between 56 and 182 (normal, <87) ng/liter. One patient was treated with cinacalcet, resulting in resolution of hypercalcemia. CONCLUSIONS: PHP1B patients are at risk of developing tertiary hyperparathyroidism and/or hyperparathyroid bone disease and should therefore be treated with sufficient doses of calcium and vitamin D to achieve serum calcium and PTH levels within or as close to the normal range as possible. Surgery is the treatment of choice in this setting. Cinacalcet may be a useful alternative in those who do not undergo surgery.
Authors: Murat Bastepe; Leopold F Fröhlich; Geoffrey N Hendy; Olafur S Indridason; Robert G Josse; Hiroyuki Koshiyama; Jarmo Körkkö; Jon M Nakamoto; Arlan L Rosenbloom; Arnold H Slyper; Toshitsugu Sugimoto; Agathocles Tsatsoulis; John D Crawford; Harald Jüppner Journal: J Clin Invest Date: 2003-10 Impact factor: 14.808
Authors: Bryan Kestenbaum; Stephen L Seliger; Daniel L Gillen; Haimanot Wasse; Bessie Young; Donald J Sherrard; Noel S Weiss; Catherine O Stehman-Breen Journal: Kidney Int Date: 2004-01 Impact factor: 10.612
Authors: T M Murray; L G Rao; M M Wong; J P Waddell; R McBroom; C S Tam; F Rosen; M A Levine Journal: J Bone Miner Res Date: 1993-01 Impact factor: 6.741
Authors: Bart L Clarke; Edward M Brown; Michael T Collins; Harald Jüppner; Peter Lakatos; Michael A Levine; Michael M Mannstadt; John P Bilezikian; Anatoly F Romanischen; Rajesh V Thakker Journal: J Clin Endocrinol Metab Date: 2016-03-04 Impact factor: 5.958
Authors: Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Aurora Garcia Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen A T Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Manasori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebeca Rodado; Anya Rothenbuhler; Vrinda Saraff; Ashley H Shoemaker; Eileen M Shore; Caroline Silve; Serap Turan; Philip Woods; M Carola Zillikens; Guiomar Perez de Nanclares; Agnès Linglart Journal: Horm Res Paediatr Date: 2020-08-05 Impact factor: 2.852
Authors: Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; Alessia Usardi; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Kathleen Freson; Aurora García Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Marie-Laure Kottler; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Masanori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebecca Rodado; Anya Rothenbuhler; Vrinda Saraff; Ashley H Shoemaker; Eileen M Shore; Caroline Silve; Serap Turan; Philip Woods; M Carola Zillikens; Guiomar Perez de Nanclares; Agnès Linglart Journal: Nat Rev Endocrinol Date: 2018-08 Impact factor: 43.330