Primary Hyperparathyroidism in Neonates and Children

Chapter

Abstract

This rare disorder in children is presented across the spectrum of ages from birth to the adolescence. The chapter concentrates on the chemical abnormalities of the problem. It tabulates an extensive differential of calcium disorders and gives up-to-date information about chromosomal abnormalities for all of them. The chapter concludes with information about the management of primary hyperparathyroidism in children both from a medical and surgical point of view and focuses on some of the surgical complexities in patient care.

Keywords

Primary hyperparathyroidism Cellular hyperplasia Rickets Vitamin D adolescents Malabsorption syndromes Celiac disease Renal insufficiency 1,25 Dihydroxyvitamin D 1,25-(OH)2D3 Gs alpha mutation Pseudohypoparathyroidism Demineralization Hypotonia Feeding difficulties Respiratory problems Radiological abnormality Subperiosteal erosions Fractures Thoracic deformities Nephrolithiasis Hematuria Polyuropolydipsic syndrome Nausea Vomiting Asthenia Weight loss Hypercalcemia Lamina dura Intact PTH 1-84 Hypophosphatemia Alkaline phosphatase 25-Hydroxyvitamin-D Neonatal hyperparathyroidism Familial hypocalciuric hypercalcemia G-protein receptor Receptor gene Chromosome 3 (3q21.1) Allelic deletion 11q13 Somatic mutation Calcium receptor CaSR Phenotype Genotype Codon 58 Neuroendocrinopathies Multiple neuroendocrinopathies type 1 Adrenal cortex Pancreas Gastrointestinal tract Hyperplasia MEN type 2A (Sipple syndrome) Medullary cancer of thyroid Pheochromocytoma Protooncogene RET Chromosome 10 (10q11.2) HPT-JT syndrome Mandibular/maxillary fibrobone lesions Suppressor gene HTPR2 Chromosome 1 (1q25–q31) Parafibromin Oncogene cyclin D1 Menin Inhibitory kinase Medical treatment Bisphosphonates Pamidronate (AREDIA®) Cinacalcet Ultrasound nodules Doppler imaging MIBI technetium scintigraphy Thallium/Tc scintigraphy Minimal invasive parathyroidectomy Gland grafts Hungry bone syndrome 

Notes

Acknowledgment

The authors are most grateful to Richard Medeiros, Rouen University Hospital Medical Editor, for editing the manuscript.

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Pediatrics and CIC INSERM 204Rouen University HospitalRouenFrance
  2. 2.Department of PediatricsRouen University HospitalRouenFrance

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