UNLABELLED: We report a newborn female from a consanguineous Sri Lankan family with clinical and biochemical features of neonatal severe hyperparathyroidism (NSHPT). Mutation screening of the calcium-sensing receptor (CASR) gene in genomic DNA revealed a homozygous truncating mutation (c.679C>T, predicting p.R227X), confirming the clinical diagnosis. Other mutations at the R227 position are reported to cause varying degrees of hypercalcemia and hyperparathyroidism, but this nonsense variant is novel and expected to induce unremitting hyperparathyroidism from birth onward. In our patient with NSHPT, early bisphosphonate therapy was crucial in counteracting the marked hypercalcemia and allowed for safe surgical intervention ("total" parathyroidectomy, "thymectomy and hemithyroidectomy") at 3 months of age. CONCLUSION: This report highlights the continuing challenges in diagnosis and management of this life-threatening condition.
UNLABELLED: We report a newborn female from a consanguineous Sri Lankan family with clinical and biochemical features of neonatal severe hyperparathyroidism (NSHPT). Mutation screening of the calcium-sensing receptor (CASR) gene in genomic DNA revealed a homozygous truncating mutation (c.679C>T, predicting p.R227X), confirming the clinical diagnosis. Other mutations at the R227 position are reported to cause varying degrees of hypercalcemia and hyperparathyroidism, but this nonsense variant is novel and expected to induce unremitting hyperparathyroidism from birth onward. In our patient with NSHPT, early bisphosphonate therapy was crucial in counteracting the marked hypercalcemia and allowed for safe surgical intervention ("total" parathyroidectomy, "thymectomy and hemithyroidectomy") at 3 months of age. CONCLUSION: This report highlights the continuing challenges in diagnosis and management of this life-threatening condition.
Authors: David E C Cole; Francisco H J Yun; Betty Y L Wong; Andrew Y Shuen; Ronald A Booth; Alfredo Scillitani; Svetlana Pidasheva; Xiang Zhou; Lucie Canaff; Geoffrey N Hendy Journal: J Mol Endocrinol Date: 2009-01-29 Impact factor: 5.098
Authors: Katerina Zajickova; Jana Vrbikova; Lucie Canaff; Peter D Pawelek; David Goltzman; Geoffrey N Hendy Journal: J Clin Endocrinol Metab Date: 2007-05-01 Impact factor: 5.958
Authors: K Meeran; M Husain; M Puccini; H Scott; C Dionisi-Vici; D R Harvey; J Lynn; R V Thakker Journal: Clin Endocrinol (Oxf) Date: 1994-10 Impact factor: 3.478