A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone | Zendy

Steven D. Mittelman | Zendy; Geoffrey N. Hendy | Zendy; Richard A. Fefferman | Zendy; Lucie Canaff | Zendy; Irina Mosesova | Zendy; David E.C. Cole | Zendy; Linda S. Burkett | Zendy; Mitchell E. Geffner | Zendy

Open Access

A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone

Author(s) -

Steven D. Mittelman,

Geoffrey N. Hendy,

Richard A. Fefferman,

Lucie Canaff,

Irina Mosesova,

David E.C. Cole,

Linda S. Burkett,

Mitchell E. Geffner

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-2605

Subject(s) - nephrocalcinosis , calcium sensing receptor , hypercalciuria , calcitriol , endocrinology , calcium , context (archaeology) , parathyroid hormone , medicine , receptor , biology , kidney , paleontology

Persistent hypercalciuria, with the attendant risk of nephrocalcinosis and eventual renal failure, is common in hypoparathyroid patients, especially those with activating mutations of the calcium-sensing receptor (CASR) gene, being treated with oral calcium and calcitriol. Treatment with replacement PTH may be warranted, although this has yet to be evaluated in children.

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