Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).

The Journal of Clinical Endocrinology and Metabolism
Poonam DharmarajFadil M Hannan

Abstract

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. The objective of this work is to characterize the range of calcitropic phenotypes in the children of a mother with FHH1. A 3-generation FHH kindred was assessed by clinical, biochemical, and mutational analysis following informed consent. The FHH kindred comprised a hypercalcemic man and his daughter who had hypercalcemia and hypocalciuria, and her 4 children, 2 of whom had asymptomatic hypercalcemia, 1 was normocalcemic, and 1 suffered from transient neonatal hypocalcemia and seizures. The hypocalcemic infant had a serum calcium of 1.57 mmol/L (6.28 mg/dL); normal, 2.0 to 2.8 mmol/L (8.0-11.2 mg/dL) and parathyroid hormone of 2.2 pmol/L; normal 1.0 to 9.3 pmol/L, and required treatment with intravenous calcium gluconate infusions. A novel heterozygous p.Ser448Pro CaSR variant was identified in the hypercalcemic individuals, but not the children with hypocalcemia or normocalcemia. Three-dimensional modelin...Continue Reading

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Methods Mentioned

BETA
transfection
fluorescence microscopy

Software Mentioned

NIS Elements
ImageJ
Clustal Omega
Schrödinger
PyMOL Molecular Graphics System
Pymol
GraphPad Prism

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