Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
Author(s) -
Poonam Dharmaraj,
Caroline M. Gorvin,
Astha Soni,
Nick Nelhans,
Mie K Olesen,
Hannah Boon,
Treena Cranston,
Rajesh V. Thakker,
Fadil Hannan
Publication year - 2020
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/clinem/dgaa111
Subject(s) - hypocalciuria , endocrinology , medicine , calcium , calcium sensing receptor , parathyroid hormone , hypercalciuria , calcium metabolism , context (archaeology) , chemistry , biology , hypomagnesemia , paleontology , organic chemistry , magnesium
Familial hypocalciuric hypercalcemia type 1 (FHH1) is caused by loss-of-function mutations of the calcium-sensing receptor (CaSR) and is considered a benign condition associated with mild-to-moderate hypercalcemia. However, the children of parents with FHH1 can develop a variety of disorders of calcium homeostasis in infancy.
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